PODCAST
This podcast features guests and experts across the rare disease spectrum that highlight how to bring out the best in our rare kids and showcase that we are not alone, but part of a great community of people supporting our rare children.
Did you miss a crucial detail during the audio interview? Wishing you could quickly refer back to a specific point? We've got you covered! In our commitment to providing inclusive communication access, we've transcribed every episode. Now, you can effortlessly view, read, and even translate our content into your preferred language.
Meet the host: Emily Beauclair
"As a mom of a son with Skraban-Deardorff Syndrome, I started listening to podcasts as a form of therapy and to get advice for how to navigate through the emotions and questions that come with having a child with a rare disease diagnosis. The podcast was created for those impacted by Skraban-Deardorff, and other rare diseases, as a way to share stories, ask and answer questions, get advice, and have a platform where we can work to understand together what the diagnosis means and how we can support each other. If you have any topics you would like to be discussed, or if you would like to be a guest, please reach out to me at podcast@skdeas.org."
Episode 1
Cynthia Lang: Skraban-Deardorff mom working to find a treatment for her son
PODCAST INTRODUCTION: This is Emily Beauclair and you’re listening to the Smiles Included Podcast: Navigating Through Life with our Rare Disease Superheroes. EMILY: Welcome to the first smiles included podcast. Before we get to my inaugural guest, I'd like to quickly introduce myself and what I hope that listeners will get from this podcast. So my name is Emily Beauclair and my 4 year old son Joseph was recently diagnosed with Skraban-Deardorff syndrome. You'll hear me refer to Joe and the other kids with this disease as superheroes because of all the hard work and therapy that they need to do in order to progress, but also because one of the blessings is that these kids are insanely happy and affectionate humans and I always say that Joe's superpower is that he will make anyone smile and that is very true. Skraban-Deardorff is a mutation of a WDR26 gene and is characterized by global developmental delays, neurological issues, intellectual disability among many other things. This disorder was identified in 2018, so it is very, very new and we, as parents and advocates and caregivers have so many questions. I call it a spectrum disorder because the kids with Skraban-Deardorff develop at very different rates and have all sorts of issues impacting or not impacting them. And that is what led me to develop a podcast. My goal is to provide a place to share our stories and advice and learn from each other to help us bring out the best in our kids. We will cover all sorts of topics, from communication to handling seizures to toilet training, many others. Guests on this podcast will range from parents to experts in their field. I hope this podcast will help you feel like you're part of a community of people that all the same goal of bringing out the best in our superheroes. My first guest is Cynthia Lang, mom of one of our Skraban-Deardorff superheroes and also involved in some fascinating genetic research with her son. I hope you enjoy the conversation. INTERVIEW EMILY: Welcome Cynthia, so happy you agreed to be my first guest and share your story with us. CYNTHIA: Absolutely, thank you Emily. EMILY: I'm hoping this is really just the first time of many times that we speak. So tell us a little bit about yourself and your child. CYNTHIA: Sure, so I'm fortunate to work in healthcare as a VP of Neuroscience, and my husband is a cellist and teaches orchestra, and the way that I started in neuro was at first by chance, I thought, but now I realized that it was absolutely meant to be as it would eventually help my son. So Sebastian was born in July 2016 and he is our first child. We waited about nine years after we were married to have a baby and he was the first grandchild in our family, so everyone was very excited for his arrival. You know he was diagnosed with Skraban-Deardorff in March of 2021 when he was four years old at the time. So we've been dealing with this now for over a year, although it feels like it's been a lot longer, but overall he's a very happy little boy, always smiling, always laughing, and is essentially the light of our family so you know, we've all rallied around Sebastian and are putting all of our energy into helping him and really everyone in the Skraban-Deardorff community. EMILY: Yeah, and I think it really is a blessing about how happy these children are. They light up a room when they walk in there, but for me that delayed our diagnosis because everyone's like don't worry, he's happy so I'm sure he's fine. He's just he'll catch up. So how old was Sebastian when you start to notice that he wasn't reaching his developmental milestones? CYNTHIA: Yeah, I was a a very nervous mommy so I was watching him very closely, especially as our first child to make sure that he was hitting his milestones. So around six months when he wasn't crawling I started to get nervous and I spoke to our pediatrician about it. They ordered physical therapy. He started crawling so I told myself that was just me being nervous and trying to put it out of my mind. At 12 months he still wasn't. Talking and I became very nervous again. He didn't walk until he was almost two years old at 22 months. And at two years old, he still wasn't speaking, so I was very, very nervous. At that point, we did speech therapy. You know, all sorts of things, but still wasn't speaking. At two was also the age when he had a febrile seizure. And me, even though I worked in neuro all those years, I had never had actually witnessed the seizure. So I was terrified when it happened. And of course, being fortunate enough to have direct access to a pediatric neurologist I had talked to him about it and he tried to reassure me and say these are very common in children. I think to placate me. He's like, but you know, we'll order an EEG if that'll make you feel better. So we were admitted to the EU overnight and the next day our pediatric neurologist called me into his office and he said I can't believe I'm telling you this, but your son has epilepsy. And even though it I knew what that meant, which is very scary, because you know, controlling seizures can be very difficult. In a way, I was relieved because in my mind I thought, well, maybe This is why he hasn't talking. Maybe all this epileptic activity is interfering with that. So at that point we put him on medication for his seizures and he never had another seizure. Thank goodness. EMILY: Oh really, oh, you're one of the lucky ones. CYNTHIA: Yes, we are one of the lucky ones. Yes, thank God. So he very well controlled seizures, but after trying multiple different medications none of them helped with his speech. So we felt stuck at that point and I. I mean we had tried everything that you could possibly try. Anything where anyone said this helped their child start talking, we tried. EMILY: Yep. CYNTHIA: We but of course none of it worked. EMILY: Were you involved at all in or did anybody tell you about the birth to three services where you would get speech therapy, OT, physical therapy all provided by the state? CYNTHIA: So because I worked in health care, I knew of it. And in the state I lived it at the time. You could refer yourself so we referred ourselves to those services and they were wonderful. All of the pediatric therapists that we had worked with were fantastic. So yes, Sebastian got PT. He got speech, he got occupational. And they helped him somewhat with his motor skills, but nothing helped with his speech. EMILY: Yep exactly, yeah. We had a very similar experience and my son didn't walk until he was two and a half. And that was really during the pandemic. At that time we were doing PT over zoom, so that was a whole lot of fun. CYNTHIA: Yeah, really challenging. EMILY: Yeah, but we didn't. Even none of our healthcare providers even told us about the birth to three services and luckily a family friend mentioned it and. Something we need to talk about in a future podcast with some of the other parents is how difficult it can be to get some of the services our children need and how much you need to advocate on their behalf. What was your experience with the genetic testing? Because we had a very difficult time convincing our doctors to do it, and I'm not sure if you had the same experience. CYNTHIA: Sure, yeah. So even though I worked at a great healthcare system at that time, we also had some difficulty with the genetic testing. So when I mentioned it to our neurologist, what he had told me was we could do genetic testing. But even if we do. When something comes up, there's nothing we can do about it. EMILY: Yes, CYNTHIA: So in a way they deter you from doing it. EMILY: Yes, we heard the same exact thing. CYNTHIA: They make it seem like it's kind of useless, but I knew in my heart that I cannot not know. EMILY: Exactly. CYNTHIA: So even if all it does for us is gives us a diagnosis and there's nothing more we can do, at least I can have that piece of mind to know what it is. So I pushed for it and they ordered a series of panels so they did fragile X testing. They did Angelmann's testing. And I prayed that it would all come out negative and thankfully it was, but I still couldn't shake the feeling that this is something I truly felt like. I feel like there's something genetic going on here and me doing my own research, even though I work in healthcare, I am not clinical. But knew about whole exosome testing, so I asked our neurologists about it and they finally did it. So. After we sent over the sample, it felt like forever for us to give us the results, but it was in March of when we finally got them and they told us that he had Skraban-Deardorff syndrome. And the way that the news was delivered, obviously this was during the pandemic, so this was all via phone call. So they told us your son has Skraban-Deardorff, why don't you Google that and I’ll call you back in 20 minutes. EMILY: That's the worst advice ever. CYNTHIA: It was the worst looking back, I'm like I don't know why anyone would do that, but obviously we did. And you know, just learned it was extremely rare. There was no treatment for it, and I mean we were just devastated. EMILY: Yeah. CYNTHIA: Completely devastated. EMILY: And do you know anybody else that or did you at the time know anybody else that had a child with a rare disease? CYNTHIA: I didn't, but you know, a couple years before. or maybe it was one year before Sebastian was diagnosed, I remembered reading an article on my phone about a mom who had a son with rare disease and how much she had fought to start research and find a treatment for him. And there was something about that article that told me I need to save this in case I ever need to reference it in the future. And that article was about Amber Fried. I don't know if you know who Amber Fried is. Her son has a rare genetic condition called SLC Something I believe. Sorry Amber, but I remember after Sebastian was diagnosed that night. Actually, you know, just obviously crying and just feeling completely devastated. And I found that article that I saved and it had her e-mail so I emailed her in the middle that this was like one or two AM. I sent Amber an e-mail and she responded within like an hour or two. EMILY: That’s amazing. CYNTHIA: She's incredible. And, you know, told me how sorry she was told me about her journey and said here's my number, you know, call me at any time and I'm happy to talk you through this. So it was really Amber in the beginning who helped me so much by sharing all the wealth of knowledge that she had learned through her own journey, sharing with me where the pitfalls were. You know, this is where you should focus your energy, and essentially how she was. Able to start research for her own son. EMILY: That's just amazing to hear because it feels very isolating when you find out that your child has this rare disease and you don't know what to do next, and I was very lucky that I had an ex colleague. Actually, that now is a very good friend who had a child with a rare disease and she was the one that was pushing me to get the genetic testing because she kind of…I think she knew something I didn't based on based on what was happening with all of the symptoms and with the he'll catch up, he'll catch up that I kept hearing even though I knew he wasn't catching up. This community has opened up and I love to hear from you that you just reached out to a stranger and she responded to you and is now someone that will give you advice and help you along the way. And I think there are so many rare disease parents that are open to sharing their stories if it helps other people. CYNTHIA: Absolutely, it's you know so many in the rare disease community will say this is the community you never wanted to join, but are so grateful for because these families and parents and loved ones are just so willing to share everything that they've learned. Because really, we're all here supporting each other. And unfortunately, there's very limited support for people with rare disease, so this is really one of the few groups that you can turn to. EMILY: Yeah, and I've discovered there are there are so many different rare diseases and so many parents out there that are looking for answers and it’s just so difficult and that's why I hate to hear you googled it because that's what I was constantly doing as well and it would just get me depressed. CYNTHIA: Absolutely. EMILY: It would not help. It would not give me. It would just say OK, you know be happy with that. Your child is happy and you know he's he has a disease that is not going to kill him. Which was a fantastic relief and one of the reasons that I really wanted to push for the genetic testing was I needed that answer. I mean, I don't know what I would do if I found out the opposite answer, and I know a lot of parents have to deal with that. But it's just I don't understand why it why it's so why it's so difficult to get this testing done and. It's just your story sounds so similar to mine and it's just so frustrating. CYNTHIA: Yeah, and I really wish that we can change the attitude around it and the medical community and maybe that will change soon to go. This isn't this isn't something that has to be a dead end. And you know when we got the diagnosis, we were essentially told, you know, there's nothing we can do. Good luck. I remember seeing a neuropsychologist who told us you know your son is never going to graduate high school. He'll get, you know, a certificate of completion and just, you know, take him home and love him and I remember how devastated I was and thinking, what is this person talking about? EMILY: Yeah. CYNTHIA: How are they already telling me that my son is just never going to progress? And that's not OK? I can't just take him home and love him and not at least try and do something. I'm not ready to give up. EMILY: That's just such a complete lack of faith in your son and in you by giving you giving you an answer like that. wow. Well, I'm glad you didn't listen because I would love to talk about this organization that you're involved in because it seems like you've really gone above and beyond and were looking for a way to advocate for your child. So tell me a little bit about rare base. CYNTHIA: Sure, so rare base is an early stage public benefit precision medicine company, and they're based out in Palo Alto, CA. And they work to deliver therapies to millions of people living with rare genetic diseases that have no effective treatments. We know that less than of rare diseases even have a treatment. So currently they're working with over a dozen different rare disease organizations to complete drug repurposing research for them. So essentially what we're trying to do is determine. Are there any drugs that currently exist that could be repurposed to treat this disease. The CEO of this company is a rare disease patient himself, and this is something that he was able to do for himself and then created this company around that. So for me, after Sebastian was diagnosed, I think I took a day to cry and then the next day I knew I had to be focused on something active. I can't just, you know, sit back and not do something. My child so EMILY: I'm proud of you for only taking a day to cry. CYNTHIA: Well I won't pretend that I didn't cry more but I took a day to grieve and not do anything else. And after that I said I had to take action. So for about 2 weeks I did nothing but research and I was on my computer and I was watching videos and there's a lot of great rare disease organizations out there like global genes and NORD and others. So I was watching all sorts of videos and things that they had and at some point. Stumbled upon a website for an organization run by someone named Ethan Pearl. And I was put in contact with him and he had essentially let me know that you know he was no longer doing this research work. But hey, I know this company called Rare Base. Why don't you contact them and you know see what they tell you, so that's how we started. So it was doing it was organically through doing all of this research and then one thing led to another which led to a rare base. EMILY: That's amazing and I find it fantastic that you found some way to advocate for your child, so you're not sitting there grieving for multiple days, because I think that's part of probably the hardest part of getting this rare disease diagnosis is what can I do next to help my child? Because you're not just taking him home and loving him, like yeah, you'll do that, but that's not going to help your child achieve what you know he can achieve, and so this is great and I want to hear a lot more about rare base, and we'll definitely put a link to the company in the podcast notes so everybody can go and see it for themselves. But what do you hope that rare base is going to do for your son and for others that have rare diseases? CYNTHIA: So fortunately we are towards the end of our journey with rare base. As we've been working with them for about a year now. And as a matter of fact next week I have a call scheduled with them to review the preliminary results of their research. So my dream is that they tell us we have found a drug that will help your son and essentially our target has there's multiple targets that I'm not a scientist, so I won't do this justice, so I'm explaining it in my terms, the way I understand it, but essentially with at least in Sebastian's case, he has won good copy of the WDR 26 gene and one copy that essentially isn't functioning. So what we're trying to do is either over exaggerate the good copy to make up for the bad copy. Bcause what happens is that gene is functioning at 50%, right? When you have a bad copy, it's supposed to function at 100%. So we either need to over exaggerate the good copy so it can function, or close to 100%, or find other pathways within the bad copy to make it start functioning. And they have their own artificial intelligence and software to do this and determine are there drugs that are that already exist that can help do this? EMILY: This is Fascinating. CYNTHIA: My dream is, they tell us that they found something. Yeah, it is unbelievable how far the science has come. And and to know that this exists, I'm so grateful to this company, and this is obviously something that I could have never done on my own. So to have someone like them exist is just a beacon of hope for rare disease families. EMILY: And did they, just, you know, take a little blood from Sebastian and are just running millions of tests? Or do you have to do anything else for them to be able to evaluate the gene itself? I mean, I'm just wondering if he's got to take any of these drugs or solutions in order to see if they work for him. CYNTHIA: Right, so now there's multiple different ways that you can submit a sample at the time that we started with them, we had to submit a skin biopsy of my son, myself, and my husband and mail that to the company which we did. From there, they grow stem cells and from the stem cells they grow neurons and that's what they used to do all of their research and determine are there any drugs that will have effect on WDR 26. So my husband and I often joke that our dream would be if they told us, hey, you know some super cheap drug is going to cure your son. I don't know if he'll be that lucky, we'll see. But but yes, that that's essentially how they do their research. EMILY: Oh wow, I mean. So I was going to ask you what other parents of Skraban-Deardorff kids can do for this organization, but it kind of sounds like you are doing this on behalf of all of us. Should we all be sending stem cells to this organization to help out or are you really doing this so that it’s going to help Skraban-Deardorff in general. CYNTHIA: So in a sense, the work that we're doing for Sebastian hopefully will help the community in general, and we are extremely fortunate. When I started with rare base, they asked me who are the physicians or the scientists that know the most about this. So obviously I gave them the information for Doctor Skraban and Doctor Deardorff. Doctor Deardorff is now serving on their scientific Advisory Board. So we have the benefit of having essentially one of our specialists who knows the most about this participating in this and helping them to create their experiments. So whatever the end result is, it could be the most useful for us. With that all said, there are limits and that obviously this is extremely specific to Sebastian. That's the only sample that they have. But Rare Base has a biobank for each rare disease. So, and this is something that we're going to talk about at the conference in July, the Family Conference in Philadelphia. But we would love for other families to participate so that we can increase the number of samples in the biobank and see you know the results of our research is it replicable in other patients. That's what we want to be able to see. Right now, we're not going to really know, because Sebastian is the only sample that we have. If we have more samples, we'll know if whatever we discover, will it help others as well and not just Sebastian? EMILY: Well, I think you are about to get hopefully 10s if not hundreds of people volunteering their children to give some samples because I think we're all looking for any chance of hope and struggling with what we can do next and. Man, this is great news. I mean it's just makes us feel like we can do something and I am so thankful that you went on this journey and are helping the entire Skraban-Deardorff community. CYNTHIA: Yeah, I I'm so grateful to rare base for all the work that they've been doing for us, and I have a fantasy in my mind of going to the conference in July and sharing great results from the research with the other families and then hopefully being able to start our kids on a treatment soon. That is my dream. EMILY: I very much hope that dream comes true. What Cynthia is referencing is that there is a family Skraban-Deardorff conference at CHOP at the end of July. I know a lot of families aren’t able to attend due to costs or geographical reasons, so we’re definitely going to be bringing back a lot of takeaways from that conference to this podcast. Cynthia, if there are families listening to this ahead of that conference that want to be proactive with getting involved with Rare Base, what can they do? CYNTHIA: If they want to submit a sample to rare base, they can contact them and let them know and Rare Base will send them a kit and give them more information essentially about how to submit their sample. EMILY: Great, OK, so as I mentioned earlier, we'll definitely put a link to rare base in this podcast notes if people are interested in being proactive, but maybe they'll just wait to speak with you in person in July because I am very much looking forward to meeting all these families in July. CYNTHIA: Likewise, likewise. I have not met anyone else who has a child with Skraban-Deardorff, so I'm very excited to meet other families. EMILY: Oh man, it's I. I honestly feel bad for the families that want to be there and can't because I am so looking forward to it. I think it'll just be a great way for us to see other kids that have it and see them interact with each other. I think it’s just going to be an experience that I'm going to try not to cry the whole time. CYNTHIA: Exactly exactly and I and I hope I saw meeting each other, we can also rally around a common cause, which is obviously our children. And what can we do to help them? Whether that's submitting samples to rare base, whether that's looking for other treatment options with the help of Doctor Deardorff and Doctor Skraban. So I'm still looking forward to talking about what are our next steps and what can we actively. Do to help our kids. EMILY: Exactly. Oh man, I've chills now. I've chills, so it's going to be good. OK, so, stepping back a bit, what advice do you have for someone that is just getting Skraban-Deardorff diagnosis or another rare disease diagnosis? CYNTHIA: Sure, so I'll speak to Skraban-Deardorff specifically, knowing our kids and their symptoms. I will say making sure that you get the right therapies for your child, so a lot of times we hear you know there's nothing that we can do, which in a sense is true. There is no treatment right now for Skraban-Deardorff, but there are things you can do that might help, so I'll share my journey with Sebastian some. So we started Sebastian on ABA therapy. And he's essentially been attending that full-time almost for two years now, and it has helped him so much when it comes to his cognitive skills. But when it comes to his motor skills, so before you could put a puzzle in front of Sebastian. He wouldn't be able to put it together. You can ask him to match. He wouldn't have been able to do it. Now he does it like second nature and you know it's so quick. And I remember when our therapist first showed us videos of Sebastian doing these things we were crying because we didn't know if he was ever going to be able to do that. So ABA therapy for our son has just been tremendously helpful. He's also received Occupational therapy, which has helped him a lot with his sensory issues. I know a lot of our kids on this journey at some point have also been diagnosed with autism, which can sometimes come with some sensory issues. So for our son he hated to have his head touched. It made it very difficult. As you can imagine during bath time and hair washing. So occupational therapy has helped so much with that. Now we could wash his hair. Now we can brush his teeth. Those normal day to day activities are so much easier now. So I would definitely take a look into those things. EMILY: Yeah, that's great to hear. CYNTHIA: Yes, for rare disease in general, I would definitely say look into some of these rare disease organizations. Global genes is very helpful. They have several conferences that they host throughout the year. Their website has a lot of resources and for someone again who's not clinical and knew nothing about rare disease before our son was diagnosed, it was definitely a great resource to learn some basics. And also to learn from other rare disease organizations. How are they fighting this? What are they doing and what can we learn from each other? EMILY: Yeah, all great advice. Going back to the ABA therapy. Do you have Sebastian in something in ABA full time or do you have him in school and he's doing these therapies on the side? CYNTHIA: So we have him in ABA full time, so obviously, you know we've been living through the pandemic the last two years. And in Sebastian's case at the time, the only option for him was virtual school, which we just knew would not work well for him. So we decided to enroll him full time at a center, which was wonderful and was able to provide him one to one coaching with attack and a therapist which has just been extremely beneficial. Sebastian is turning 6 next month, so for the upcoming school year we are planning to enroll him in kindergarten. But we're also looking at doing some sort of hybrid model, so perhaps having him attend school for half the day in the morning and then attend a BA in the afternoon. But that's something that we're still figuring out with the school district here. EMILY: Well, I love hearing the progress and I love hearing the inclusion. And you know, thinking about having him in kindergarten. And I know it's definitely a tough decision. But you know, I think as you're moving forward, you’re going to be fighting more and more for your child and what's right, and you know, learning from others and hearing what you're doing in your path and potentially splitting the school day, I think, is really interesting. My son, is only four but we're really questioning what we should be doing as they get closer to kindergarten. He's in a preschool right now that's definitely helping him. But with the peers that are his age, it's just becomes more and more obvious how behind he is. And it's like do we need to put more pressure on these therapies on the side so it's very interesting to hear you're doing some like full time ABA? CYNTHIA: Yeah, and we had a similar struggle deciding, do we enroll him or school or not and ultimately decided what's going to be most beneficial right now is going to be that full-time therapy support. So I feel like we made the right decision for Sebastian. It may not be the right decision for everyone, but I at least want people to know that they have options, and that's definitely something that they should look into. EMILY: Great. And have there been any blessings that you would say came out of this rare disease journey? CYNTHIA: Ohh wow, you know it's sometimes hard to see the silver lining and things because it can feel you know very detrimental. But there have definitely been blessings. I think one of them has. In some ways my faith and humanity have been restored by just working with so many great people in the rare disease community who just give and give and give with no expectation, you know, they just they want others to succeed and to not fail where they failed. I'm so grateful for all the rare disease, you know, trailblazers who I looked to as role models for just sharing all this information with us and really being so extremely helpful. And they just do it out of the kindness of their heart. And, you know, spend so much time. To educate people like me. So I'm I'm very grateful for that. I think the other blessing has been it, you know, we have another child, Sabrina, our daughter, who's Sebastian's little sister. She's two. It does make you appreciate your typical child a little bit more obviously we were extremely scared that Sabrina could have this as well. Luckily she does not, but it does make us more appreciative of her milestones and thankfully she has progressed normally, but you know, it's bittersweet because you know she's speaking. She's ahead of her brother at this point, which we're happy to see, but also in our hearts it's hurtful because these are the same things that we want for Sebastian, and we hope that he's going to get there. EMILY: Absolutely, and I can tell you are not alone with that feeling because I also have a 2 year old and everything that you are saying is resonating with me and I'm sure it's gonna resonate with a lot of other people as our two year olds are hitting these milestones and you see your other child is just falling further behind. But we'll get there and I'm hoping that these siblings turn out to be no fantastic advocates and fantastic human beings because they have grown up with a sibling with a rare disease. CYNTHIA: Exactly. EMILY: OK, so before we go, is there anything else you that we haven't touched on that you want listeners to know about? CYNTHIA: I would just say, don't ever quit fighting for your child. So many times we're told there's nothing you could do. There's the science has evolved so much so quickly that I know there are things on the horizon. You know there’s ASO therapy, there's gene therapy that other neurodevelopmental where diseases have done so. I know that there's more that we can do, which I'm so excited to see at the Family Conference and you know getting this information from our physicians. But don't ever stop fighting for your kids. There's a lot more that we can do, and I think by all of us joining together and making that our focus, we will get there. EMILY: Yeah, I I agree, I agree. I think there's going to be major advancements in our lifetimes and in our kids lifetimes that are going to not only benefit our kids but everybody behind us. So, thank you for really starting this journey with us and letting us know what you're doing. And I think you're going to get a lot of questions when people see you in July about how we can help with rare base and some of these other companies that are really pushing to help everybody with a rare disease. CYNTHIA: Absolutely, I'm happy to share more information and thank you Emily for starting this podcast. It's going to be so helpful to our community and I'm very grateful for you for taking the time to do this. EMILY: I hope so. The reception that the Skraban-Deardorff foundation and the board gave me when I mentioned this podcast just made me realize how badly we need it so. I can't wait to just really dive into some topics, but thank you for being my first guest. CYNTHIA: Absolutely thank you Emily. EMILY: Thank you, PODCAST EXIT: Thanks for listening. I hope you found today’s topics helpful in your rare disease journey. If you have any topics that you would like to discuss, or if you want to be a guest on the show, please reach out to me via the website included in the show description. Talk soon.
Episode 2
Emily Gerst: A conversation about the impact of the Skraban-Deardorff diagnosis and advocating for our children
PODCAST INTRODUCTION: This is Emily Beauclair and you're listening to the Smiles Included podcast navigating through life with our rare disease superheroes. Welcome everybody. EMILY B: I am very excited for our guest today. Her name is Emily Gerst and she is the mom of one of our Skraban-Deardorff superheroes. We have never met in person, but I have seen tons of photos of her beautiful daughter on our Skraban-Deardorff Facebook page. We'll have the address at the end of this episode and in the shown notes for anybody that's impacted by Skraban-Deardorff and would like to join the Facebook community. I am hoping you find this conversation as informative and helpful as I did. It took on a life of its own, went way longer than anticipated, but we get into a lot of great topics and it's really a conversation between two moms that have rare disease children at different stages of their lives and they're impacted very differently by the disease. INTERVIEW EMILY B: We had some minor technical difficulties so audio is not at 100% but thank you to Emily for dealing with that and for getting us through it. Please enjoy the conversation. Welcome Emily and let's dive right in. So please tell us a little bit about your daughter and about your family. EMILY G: Sure. My name is Emily Gerst and my family and I live in Wisconsin. I'm a music educator so I previously taught general vocal music in a public school district and I'm currently a self-employed piano instructor. I have one child, she's eight years old, her name is Cecilia and we typically call her Cece. She was diagnosed with Skraban-Deardorff syndrome in May of 2020. EMILY B: Oh so you have a relatively new diagnosis considering the age of Cece? EMILY G: Yes, yes it's been quite the journey. EMILY B: Yeah so did you do genetic testing earlier and then just recently get the results or? EMILY G: It was a long journey so I guess to back up a little bit, I was just discovering exactly what she would look like and what her deficits were. I had an uneventful pregnancy and Cece was born the day before her due date. She's this little, tiny six pound baby super sweet and as she got older I mean she wasn't exactly missing milestones but they were definitely on the later side of normal. Like she was crawling around 10 ½ - 11 months, or she was walking around 16 ½ - 17 months. We were just kind of in this gray area because you know nothing about that is super startling but it is kind of borderline, and she was growing but she always remained at the bottom of the growth charts - like second percentile. So as a first-time mom it's like I'm just trying to be patient and respectful, give her the time she needs to grow and thrive, but I had that uncertainty in the back of my mind and when she was two, it was like her words just weren't coming very easily. She had a couple of single words, but she wouldn't use them regularly or consistently so that's when we got our assessment done by birth to three, and there the results of their evaluation was that she qualified for speech therapy, but she didn't qualify for other services. There was that slight deficit, but the deficit wasn't great enough to receive services. I did enroll the two of us in this small group yoga class with a birth to three physical therapist because I just figured that the extra help wouldn't hurt. Then when birth to three came to a close our speech therapy services were transitioned to our neighborhood school, and I had her reevaluated and once again she didn't qualify for any additional services, so I pursued clinical therapies, and they were able to see her for speech therapy, occupational therapy and physical therapy. That's the beginning of our journey and that's why genetic testing wasn't necessarily something that was suggested by her team. We were just hanging in that area where she wasn't necessarily meeting those general milestones but at the same time there just there was always that concern in the back of our minds. EMILY B: This is fascinating to me because we had met with Dr. Skraban when we first got the diagnosis and had heard that kids fall all across the spectrum and my son seems to be sort of right in the middle and your daughter seems to be on the higher end of the spectrum where she is developing a little bit faster on that end so it makes it – it doesn't make it - harder to notice that she's not developing at the perfect rate which there's never a perfect rate but she's also your first child. Were you getting a lot of the “she'll catch up” from your doctors and friends? EMILY G: Yes absolutely and again just like being that first time parent and trying to be respectful of her, that's tough because you need to know when to push and when to back off and relax a little bit so that's why the journey did take as long as it did. But we did learn a lot when she started school. Cece participated in half day four-year-old kindergarten at our neighborhood school with her same age peers so she received those pull-out speech therapy services and then she went on to full day five-year-old kindergarten again at our neighborhood school same age peers but in addition to the pull-out speech therapy services they began to incorporate some specialized instruction for both reading and math. Because this was when we were able to see that her academic ability was measuring below grade level so that same model has continued going forward in the fall she's entering third grade which is insane I mean time really does fly, but it's exciting too and it's been really fun to see what we consider to be really great academic gains. Right now, Cece knows her letters, she knows her letter sounds, and she's able to construct simple words like “cat” or “hug”, using movable letters like the magnetic alphabet or whatever. She can also piece together short, full sentences using movable words. She knows some of her sight words she can point along as she as she reads which is really just pre-reading short repetitive texts like “I see the dog; I see the bird” which is really exciting to see some of those skills coming through. Math is definitely more challenging for her. We're working to solidify her knowledge of the numbers 0 through 20, which has been our goal for a while. Those team numbers are our trouble. They are so difficult to teach. But she loves working with shapes and patterns. And then we recently also added this awesome social skills goal. And I'm really thrilled with this one because she's working to become a more active participant in conversation. She does have speech and language challenges, but she does speak. What this goal has looked like in practice is that she has this this weekly social group and it's led by a regular classroom teacher, and there's one other student in the group. The teacher prepares this very short lesson plan which includes some sort of prompt that the kids are supposed to prepare ahead of time. This one week the prompt was sharing a joke -that was the hardest thing. Emily, we took this simple joke and we practiced it for three, four, five days straight. I mean it was it was somewhat torturous. But she did it she accurately told this joke to her classmate. And it was awesome. EMILY B: So let's listen to Cece tell her joke. CECE: Why did the cookie go to the doctor? …Because it felt crumby! (Laughter ensues from host and guest) EMILY G: Oh, so like you know we were just scouring through all of these different jokes and that was the one she arrived at - and we practiced it for so many days and it was it was one of the most challenging things that we had to prepare for this social group. EMILY B: It's just amazing to me that your daughter can tell a joke and I just can't imagine the patience it took to get her to that spot. One thing I've learned with this diagnosis is that I have zero patience. I guess I've always known I've had zero patience, but it's definitely been reinforced as part of this overall diagnosis and experience. EMILY G: Do you want to tell us a little bit about Joe's diagnosis? EMILY B: Sure. Joe was my first child, and he was diagnosed in 2021 during the pandemic. But we've always known he was severely delayed. Everyone called him a floppy child just because he had very low muscle tone. I mean even in daycare; he all his all his friends were walking and he was not even crawling. I mean he was pushing his body along the ground to get places and I just remember thinking what do we do about this? We had him in the birth to three program and I remember when we first met with the birth to three people I felt like I really had to make my case about why he needed to get these services. It's like I needed them to see that he needed these services when really the birth to three person that was looking at him was probably saying “wow this kid really needs these services.” But I didn't know because he was my first child and I was like he's a little delayed but we did PT, we did OT, we did speech and it was just going through all these all these services and knowing that he's falling behind and having no idea why and everybody including our neurologist kept saying don't worry he'll catch up and my favorite was they kept saying well imagine you know having a 30 year old but he's acting like a 28 year old you'll never know the difference. EMILY G: I've never heard that point being brought up before. EMILY B: Well that was them saying like he's just a little delayed and it'll be fine and you're right that's not what they should be telling us and so it's like every like six months we get his you know his scores on how he's doing in the birth to three program and he barely even made it one month so it's like the he'll catch up was not working. EMILY G: Right, you're just getting further and further behind. EMILY B: Exactly and nobody could tell us why and my son was having seizures as well and that also was another indication that we knew something else was going wrong. Was Cece having seizures? EMILY G: She did. Her seizures started when she was about 16 months old and it started with febrile seizures, so the first time that she had them she actually had four seizures within 24 hours and it was absolutely terrifying and then for the next couple of months or so we had a little bit of seizure activity but they were often written off as febrile like “well she has a mild ear infection so it's probably just a febrile seizure” and again that's something that's somewhat common so you're still in that same gray area you're not necessarily getting to the root of the issue here but eventually she did have seizures like almost every two weeks they weren't accompanied by illness and we were able to get her epilepsy diagnosis by means of an ambulatory EEG. Her seizures responded to the first medication that we tried and it appears she's been seizure-free ever since and that whole nightmare of an experience took place over the course of a half a year and she still remains on that same original medication just with a few dosage adjustments because of growth. EMILY B: Yeah, that's similar to our experience that we probably had about a year of seizures and at some point I'm hoping doctors realize that seizures, delayed development, not speaking, maybe we should be pushing for genetic testing and not making the parents ask for that because it's just all these are indicators that there's something else potentially going wrong. But we have been lucky that for the past year, the medication has helped Joe and his seizures have been under control, but I have major PTSD from those seizures. I mean, it's the most helpless experience. I mean, we slept with Joe for over a year in our bed because he had seizures at night normally and I didn't know when he was going to have a seizure and I didn't trust him to be alone and I didn't trust any of these cameras and when we bought like pillows and sensors and all these sort of things and none of them, I think the sensors actually caused more harm than good because they were always a false alarm. But the more seizures he had, the more we knew that there was something wrong. So, what made you decide to get the genetic testing? EMILY G: Well, you know, Cece continued living in like that gray area where she was just on the borderline and when she was around five, that's when her lower academic performance really showed through. We did bring that concern to our neurology team and they were actually the ones that encouraged the genetic testing. In the fall of 2019, we began with that introductory chromosome microarray testing and that came back normal, nothing of note. And then at this point, the genetics team also used a program which analyzes a patient's facial features and suggests possible diagnoses. Did you have any experience with that? EMILY B: No, I've never even heard of that. EMILY G: It's really interesting. They can't use it to create an official diagnosis, but they use it as a tool to like help that process. The results of that test, it wasn't like a huge talking point in our appointments, but looking back on those results, Skraban-Deardorff syndrome was there as a possible match, which I think that's really fascinating that just by looking at a photo of her face that identification could be made, but a lot of us look at pictures of similar-aged kids and it almost looks like they could be siblings because they have those same prominent features. EMILY B: Exactly. EMILY G: Yeah, so we didn't have a diagnosis yet, but the local genetics team that we were working with felt like there was enough of a cause to pursue whole genome sequencing and they were able to cover the cost of the test. And then finally, in May of 2020, it was a little delayed because of the COVID shutdown and everything. May of 2020, Cece received her Skraban-Deardoff Syndrome diagnosis, and she was six years old at the time. EMILY B: What was your first reaction? EMILY G: At the time, it was a feeling of relief. I know that's different than what a lot of other family’s experience, but Cece was six and we had been living through all of that uncertainty during the early years. She had this random smattering of symptoms, and we didn't know what was at the root of it. And it's hard to treat something when you don't know what it even is. And then also to get therapies and services without any label to justify the need, that's a big challenge for families as well. We finally had our answer and that did give a sense of relief. Diagnosis is such a strange experience because in front of you, you have the same kid, nothing about them has changed at all. Yet when your team shared this detail that's been there all along, it does feel like it changes everything. I know in the rare community, families frequently use the word grief to describe the process that they go through and hopefully reach acceptance and peace with the diagnosis, but I can definitely identify with that. What about you, Emily? What was your experience with Joe? EMILY B: Yeah, I mean, as soon as we got the diagnosis and I read all the symptoms, it was exactly Joe. So again, we felt very similar to you that there was a bit of relief, but I definitely felt that grief. But it was somebody else in the rare disease community that told me it's okay to grieve the diagnosis. And I needed somebody to tell me that because I was trying to be strong and say, this isn't going to change so much. We already knew who's a bit delayed. I'm going to be strong for Joe and carry on and be happy. And luckily somebody gave me that permission to grieve because I needed that. I definitely grieved for, and I'm still grieving. I'm still going through all the processes, but we've reached acceptance, but I definitely am still focused on the anger portion of the whole grieving process. And I'm very angry that Joe is impacted by this disease. He's not going to have the same opportunities as other kids that are his age, and it's going to be a struggle for him for the rest of his life. And I'm angry that he has to go through that. But I think one of the best parts about the diagnosis is how happy our children are, and that helps me get through it. What about you? EMILY G: Oh, absolutely, absolutely, 100%. I mean, I've reached peace with Cece's diagnosis, but the grief definitely still pops in every once in a while, especially if I'm looking too far into the future. If I'm worried about what adulthood is going to look like for her, or who's going to help support her when I'm gone, I mean, those things are really heavy. But I even had this experience when Cece was first diagnosed. She and I were just in her room, cuddling, reading books, that sort of thing. It was a really nice moment. And I don't know, the weight of it, of the diagnosis just felt really heavy I guess and you know I had some tears in my eyes just general worry and Cece is so empathetic she looks straight into my eyes and gets like uncomfortably close to my face and she strokes my cheek and gives me a kiss and she says be happy be happy and you know in that moment we were so well connected and it's like there are definitely some challenges along the way don't get me wrong but that connection that we have kids is so powerful and that's something that we should be celebrating and not something that we should necessarily be upset about and grieving. That was just that was a really impactful moment to me that that just really strong connection with Cece and you know just as long as she's connected with her people I feel like she will be okay. EMILY B: That's something where we're getting to that point now. It's like we have so much support from family and friends and the rare disease community in general I'm like Joe will be okay. EMILY G: I'm so glad that you feel that way because there really are some great support people. People are good and they want to be part of our lives and there's a lot of power in having that community behind your child. EMILY B: And did you know anybody else that had a rare disease? EMILY G: You know I did actually so even just through our years of doing various therapies and things you know connecting with families while you're in the waiting room that sort of that sort of situation and it seems funny to say but rare disease is a lot more common than you might think when you when you put that whole community together so I've been lucky to meet families that you know are giving it their all and fighting so that their child can have the best outcome that this life can offer. I mean I even knew families that had used to the same genetic testing team that same team to complete their testing and so we knew exactly what to expect from that but you know when you meet these beautiful rare children they have their own unique personalities and their likes and dislikes and their own sense of humor like having those personal connections really made our journey feel more normal and more comfortable and it gave us people to lean on. But I also want to mention that nephew that is four years younger than Cece and he's the first of my three amazing little nephews that I'm just beyond lucky to have. At my sister-in-law's 20 week scan they discovered some abnormalities and the unborn child was diagnosed spina bifida which is a defect that affects the spine and it was really scary they had to decide quickly how to proceed with his care and they ended up doing this really fascinating fetal repair surgery and I mean the full details are - it's not really my story to share here - but it was successful and he's now four years old and he's doing many of the things that we weren't sure that he'd ever be able to do. Sure things look a little bit different and they can require a ton of work to get there but he is such a cool kid and it's been a great privilege to witness his accomplishments and be part of his journey too and his diagnosis would have been late 2017 that's when they did his surgery and he was born in January of 2018 so that was like a year before we even dove into any of the genetic testing with Cece. EMILY B: I've heard about this fetal repair I didn't realize that it was back in, I thought it was a brand-new opportunity that I've heard about so it's amazing that you know two or that's four years ago by now your sister-in-law was able to take advantage of that and it worked. EMILY G: Isn't that neat and you know it's one of those surgeries that they're constantly refining it so it has changed quite a bit even in those past four years but obviously you know it has really changed his story and given him access to some abilities that he likely wouldn't have had. EMILY B: Wow that's fantastic and are you close or is Cece close with her cousins? EMILY G: She has love for her cousins. They are wonderful I have three nephews they're all younger than she is. The nephew that I just referred to he also has a younger brother and they live in Wisconsin and we live in southeastern Wisconsin so getting there involves like a hundred and fifty mile car ride which isn't too bad but it just means that most of the time when we get together it's for a few days and the kids get to have their sleepovers which is super fun and then I have another brother who lives fairly local to me and he has this wild hilarious extremely vocal two-year-old so there are times that we end up seeing them like every other week, we see them pretty frequent - go the zoo together go for hikes, that sort of thing. So Cece kind of gets that taste of a sibling sort of relationship with him you know she's an only child and he's an only child so it's so fun to see the way that they interact together and how a typical child perceives someone who is a little different than when you might expect. EMILY B: I love to hear that. I mean we were living on the West Coast when we started to get the birth to three report cards showing that Joe was falling further and further behind and at one point we just said we need to move back to the East Coast be closer to family was pregnant at the time we were making this decision so I knew that Joe would have a little brother to help him but I knew he needed more support than that and I wanted his cousins to be around to help him because one of the biggest fears that I have is bullying and I am I don't know why I'm so afraid of bullying for Joe because he's such a happy kid that I can't imagine anybody being mean to him, but it is a fear. EMILY G: It's a fear for a lot of parents. We've been lucky to have very, very few issues, at least during these first eight years of her life. But you know, for the most part, kids are very, very kind. And I feel grateful for that. Right now, I do find that kids like kind of want to take care of her, which sometimes she likes, but oftentimes she doesn't really like it. Simple things like helping her put on her backpack. She might say something like, “no, I do it” or something like that. It's nice to hear her advocating for herself. But you know, kids are just navigating how to interact with a kid like her. And I'm glad that they react with that, that kindness and helpfulness, because that's such a sincere way to react to someone like her. I also find that sometimes, especially if I'm there, a kid will be naturally curious about something and they'll want to know about Cece. But instead of asking her directly, they'll ask me the question. So even the simplest things like, does Cece like such and such movie? Oftentimes they'll ask me instead of her. And part of that is because she's learning to find her voice in conversation. And she doesn't always consistently respond to kids. But I am trying to encourage conversation with her and her peers rather than getting into the habit of speaking for her, it takes a lot of guidance. And she has to find those ways of making herself understood. EMILY B: Yeah, we're having a very similar experience. We're heavily focused on trying to help Joe communicate with AAC at the moment. And he's got a device and a book. And it's with both kids and adults that we keep having to remind people not to talk about Joe, but to talk to Joe. And so we're all trying to use these AAC devices to have conversations and normalize it so that he's not in a room hearing us talk about him and not participating in the conversation. Because one of my fears is for him to start talking in a couple of years and say, Mommy, you always talked about me. You always said I was delayed or you were talking for me. And that's and I just want to make sure that he knows that we expect him to communicate with the world and for us not to speak for him. EMILY G: Yeah, you're absolutely right. You just have to assume that they understand and absorb everything. And I think it's incredible that you are able to model to him how you can use a device to communicate effectively. That's such an important thing. It's not something that's just specific to him. It's not just his tool, but this is a tool that the general population can use to communicate effectively. I think you're that's awesome. You're definitely doing the right thing. And I'm impressed. EMILY B: Yeah, we're trying. It's basically like a new language. We're all learning. EMILY G: Is it pretty new? Have you been doing it for long? EMLY B: We've been doing it for about six months now. But it's a very slow process just because cognitively, you know, Joe is a lot of times not understanding what we are trying to get him to do. But he is a sponge similar to what you were just saying, he's a sponge. I know the more we model and the more we use it, the more he is understanding and starting to pick things up. So he's starting to use words and pointing towards more and more. I know we'll get there. EMILY G: That is so neat. Finally, being able to unlock some of his thoughts. There's nothing better. EMILY B: Yeah, and we feel like he needs that communication also to be able to participate in other activities with his peers. We really want to we really want to get there. One thing I want to talk to you about is because I saw that Cece participated in a cooking class with kids her age and I want to hear all about it. EMILY G: You know, that was the coolest thing. Cece took this cooking class. It's a kids cooking camp that's intended for ages 8 through 12. It was just like typical kids at its class. And they made black bean and corn salsa. They made chocolate dipped pretzel rods. And the instructor met with us ahead of time to, you know, better understand the Cece's needs and what kind of modifications she might need along the way. The instructor ended up inviting me to stay for the class. But honestly, she did not need me there. Directions which included chopping, stirring, basic measuring, a ton of hand washing, which is a battle around here. Sometimes she wore food prep gloves, that sort of thing. And she was so successful and had an absolute blast. We'll definitely be back. It's just one of those things that you can sign up and pop in pretty much anytime. I think we'll be back for a couple other classes this summer too. But it was to see her thrive in a typical setting and cooking. She loves cooking. She has a strong interest in that area. But you know, that also carries over into just daily living skills. And that's something that will carry through into adulthood that she can prepare her own snacks and simple meals. That was a really cool experience. EMILY B: And I just loved seeing that I loved seeing her with her peers. When we were first trying to get Joe into activities with his peers, you know, we started to put him into soccer. And there was a special needs soccer team and a regular soccer team. And, you know, he's four. And I don't know why I thought I should be putting him in the special needs group. And thankfully, somebody talked me out of that. And I put him into the four-year-old soccer with his peers. He went out there the first day and was having so much fun. Occasionally he would run off and start crying or maybe run in circles and go nowhere near the ball, but 10 out of the 20 kids that were on the field were doing the exact same thing. I'm so glad that I didn't separate him from his peers and that was a lesson that I learned very early on. I'm like he needs to be with his peers and I'm going to be doing that moving forward. EMILY G: And how cool for you to see that? EMILY B: Oh I was in tears the first game. EMILY G: I'm sure. EMILY B: I'm trying to hide it, but it was just so nice to see him just running around with his friends because it was also right after the pandemic so it's hard to see him with his friends and it's hard to know what actually happens and how he interacts so it's so great to see that. EMILY G: Mm-hmm. We had an experience kind of like that so you know. I first of all want to say that I feel grateful that I really don't have to fight to have her included in things with her same age group. I mean a lot, inclusion is such a big topic right now and oftentimes people will go the extra mile to make sure that your kids' needs are met in a typical setting. A few summers ago now I enrolled Cece in this tumbling class and it was the same-aged peers. She had shown interest in that sort of thing, so we just decided to give it a shot and that girl did not participate in the majority of the class. I mean she was just running around, she was in front, dancing, giggling to herself while the other kids are lined up and taking turns doing somersaults and cartwheels and all sorts of crazy things. But you know, the studio did a great job with her behavior. She was basically paired with an older student from the studio who tried to help guide her through the activities. It was a little difficult to watch, especially they had this showcase at the end of the session. It was just like this little six-week session of classes and she goofed off the whole time but you know she was happy and that's Cece. She's not troublesome or outwardly disruptive but she does tend to get lost in her own world and she finds her own fun along the way. So overall it was still a really positive experience and the feelings of discomfort that I had were my feelings. I own those feelings. She was happy, the other kids were happy. It was just me kind of projecting my own feelings onto the situation but now looking back on it I wouldn't have done it differently. I'm glad that we had that experience and it's something that the entire community can benefit from. Cece benefits being with peers, the other students benefit experiencing what it's like to be with someone who's different from them and you learn a lot too. Both the parents that are observing and the instructors who are leading this varied group of students there's so much that we can learn in these situations. EMILY B: Yeah, I agree, and I understand your discomfort and I'm still there where I'm in the apologizing stage when Joe is you know not following directions or not even doing what everybody else is doing. I'm like I'm sorry I'm sorry and I need to get over that and it sounds like you have gotten over that. EMILY G: Well, I'm trying you know for the most part I try to focus in on her rather than the situation itself so leading with the things that that make her awesome. I mean she is happy and silly and empathetic and she's kind and those are the things that I need to lead with when she's meeting new people rather than well this is going to be hard for her or she can't do that because is listening in on all of those conversations and I don't want my fears to be what hold her back - that is definitely not fair to her. EMILY B: I agree, and I need to I need to get there. I do want to go back to school for a bit because you had mentioned to me offline that and I want to get this right that you completed training to become a district family engagement liaison. What is that? EMILY G: Yes we've got it. District Family Engagement Liaison (DFEL) we typically call ourselves it's this training and that's designed for parents of special needs students and the goal is to create strong partnerships between families and the district. So as a DFEL I'm available for families so they can reach out to me regarding special education and then I also participate in our district's pretty sizable family engagement team so it's this team that's led by our direct administration and it's made up of other administrators and various staff members like special ed teachers regular classroom teachers specialists and then us DFEL's. One of our main goals as DFEL's is encouraging that collaboration between families and school staff. Like in my case the school staff members that my daughter has contact with those people are an extension of our family. She attends a pretty large elementary school, but everyone knows Cece - even her principal served on her IEP team, and you can never have too many people on your kids team. I think it's also important to find ways to communicate well with your team and make sure that you have a solid plan in regular communication about your child's progress. For someone like you Emily that's going to be especially important because as you get into those school years you have that speech and language barrier with Joe but you still need to be informed about what's happening in school. Some teachers prefer email, some prefer phone calls, but communication logs iron those details out ahead of time so that you know what to expect and when you will receive communication from the team. I remember when I first sent Cece to 4K that it was such a big experience for us. She didn't participate in daycare or anything, so this was her first big experience outside of home. I came and picked her up from school. All the kids were outside and I didn't have access to the teacher afterward. She was talking with other families and whatnot. And so we waited, we said our goodbyes and left. And when I got home from school, I asked her about her day. And at that time, she really couldn't tell me much of anything. And that was hard. I had no idea what her experience was like - if it was good, if it was bad. And it's hard just living in that area where you don't feel connected to what your child is doing at school. So eventually we got things figured out and came up with an awesome communication plan. But that particular day was challenging. I was definitely in tears just having no clue what was going on. Making sure that you have that communication plan in the works, you know what to expect. That's such an important detail of your child's school experience. And don't just reach out to the team when there are issues, be sure to celebrate your child's school accomplishments with them too, because your child's accomplishments are their accomplishments too. Make sure that it's a relationship that doesn't focus on the negative and you're creating those connections to the team as well. EMILY B: I already need to take this advice because I have my son in pre-K with the school to help prepare him for kindergarten. And we get updates at the end of the day from the teacher about what happened in class. But a lot of those updates are we said our ABCs and we drew on this. And I know that Joe did not say his ABCs. I don't really get an actual update of what did Joe do that day? And what should we celebrate? EMLY G: Yeah, that personal update. EMILY B: I mean, I should be celebrating when he does something great. I should know if something happened that we should focus on. And at the moment, I'm missing out on those opportunities. EMILY G: Those conversations can be a little bit awkward at first, laying out the expectations, but it will be so worth your time to do. Just see what your educator's preference is to, so that you can make it something that's comfortable to them and meet them halfway. Another thing that DFELs do is provide access to resources. I'm not going to claim that I can solve everyone's problems, but when families do reach out with issues, I can oftentimes point them in the direction of resources that might be helpful for their specific situation. For example, if they're preparing for an upcoming IEP meeting, I can kind of guide them through some brainstorming, help them identify their child's strengths, their concerns going forward, that sort of thing. Or if there's a bigger issue with their child's care at school, I can help them get in contact with the right figures, kind of going up the ladder of communication in the district or refer them to other organizations that will help mediate the more complicated issues. But you know, for DFELs, oftentimes, families just need some peer support. We can offer that. And many of our special education families feel isolated during this process, and they might not have people in their lives that they feel comfortable opening up to and venting to. Those sources of support that you have had in your life for years and years, they might have absolutely no clue where to begin when it comes to offering advice about raising a special needs child. It's such a different experience. I think that it's important for families to have access to peers that they can connect with, and DFELs are well-informed peers. Instead of just listening to their complaints and adding on to their complaints, we can pose things a little bit differently so that they can be more productive and work toward a more positive educational relationship for their child. EMILY B: I have to find out if we have something similar to DFEL. EMILY G: I'm not sure what other states offer, but my answer to it is if you have the opportunity to learn anything more about navigating special education services, just do it. Honestly, it will be so worth your time to know more about this experience. And even through the training, I've learned a lot about the IEP process in general. Remember, the IEP is like that individualized education program. It is an actual legal document created for each special education student to help guide their experience. I've learned about writing effective goals and preparing for transition years and all the legalities and learning about college and career readiness, which I hadn't really thought about at this point, but it's actually really, really interesting to see what sorts of supports are in place for these kids as they get to adulthood. And not all of this information was brand new to me, I did complete my graduate level teaching certification and in music education. So we all dive into at least the basics of special education, but even the information that wasn't new to me, it sits a little bit differently now from the parent perspective anyways. If you have any opportunity like that, definitely take them up on it. EMILY B: Yeah, I definitely am going to look at this because I think it's just so important to talk to somebody who's gone through it. I do trust that the teachers have Joe's best interest at heart, but they may not understand what's best for him. So talking to someone that's gone through it and someone else who has a rare child as well, I think is really important. EMILY G: I've met some of the most amazing people in my local area that - whether they’re educators or just really strong parents - they have such great advice to give to people like me in a variety of situations and kind of know some of the players that I'm working with as well. And so I think that experience has been extremely valuable to me personally. EMILY B: Yeah. This is really helpful to hear from you. Let's go back to the diagnosis and after you received it, was there anything you would have done differently after receiving the diagnosis? EMILY G: Not necessarily, but I do think that we, as our little Skraban-Deardorff Syndrome community, can pave the way a little bit better for our incoming families. When you do the web search for Skraban-Deardorff Syndrome like we all do, the hits that you get are like clinical descriptions of the disorder, a few research papers, that sort of thing. That information definitely has its place. Don't get me wrong. We families need that information. Our local health care providers who are just learning about their patients' new diagnosis - they need this information. But I think that we could afford to supplement or diversify the conversation to include the beauty and personality behind all of this, really embracing the individual smiles behind our Smiles Included line. And I would love for new families who just received this daunting diagnosis, you know, they hop online after their genetics appointment and not just find the clinical information, but our stories. And that's why I think that this project that you're leading us through Emily, I think it is important and I think it's necessary. You know, I remember when I first got the diagnosis, I stumbled upon something that was impactful to me. After receiving the diagnosis, it's confusing because your local health care providers can't tell you much because they don't know anything about it. EMILY B: They're reading the exact same thing on the internet. EMILY G: They sure are. And maybe they can comprehend it a little bit better than us. But that's about it. After our diagnosis appointment, I just immediately felt overwhelmed. But at the recommendation of our area genetics team, I also joined our Facebook community. And I waited for approval, finally got my approval, and I just scoured through all of these posts. And I must have been on there for a really long time, because this would have been May of 2020. And I found this post from December of 2018. And it was a video of this girl in our community that her mom posted. I won't use the name, but maybe some of our active community members might know who I'm talking about. This girl is like five years older than Cece, I think. And in the video, she's in this school Christmas music program. And she's up on stage with her peers. They're all in costume. They're singing together. They have the cute little choreographed moves, you know the deal. And this girl from our Skraban-Deardorff Syndrome community, she's up there with her peers. She's singing her heart out dancing to her own beat. She's smiling, having the time of her life. And that made me tear up because that is so my Cece. Seeing this girl up on the stage, she has that same spark of joy, love for life that so many of these people share. And it's the coolest thing to witness. I never told the mom exactly what that meant to me at the time. But we've since connected and had a lot of conversations about our girls. And she's become someone that I really look up to. I hope that our work with the Skraban-Deardorff Syndrome Foundation can help put forth that more personal image to the rare disease to help supplement the other information that's out there. EMILY B: I agree. I know which video you're talking about. And I'm tearing up right now thinking about it because I did the same thing. And it was just seeing some of these kids a little bit older and what they were going through and seeing how happy they are just gave me some hope. And I love all the work that the Foundation is doing. I know you're a member of the board that's working on it. I think it's really giving much more of a personality to this disease. EMILY G: Such an important step in the process. EMILY B: Yeah. And people are becoming much more active in the Facebook group I've noticed. And I love seeing all the new videos and I cannot wait for the family meeting to meet some of these kids in person. EMILY G: I haven't met anyone else. Have you? EMILY B: No I can't wait to see you in person, give you a big hug, but I cannot wait for our kids to meet. EMILY G: I just try to imagine it. But I think it's going to be one of those life experiences that you can't fully wrap your head around it until you're actually in it. EMILY B: Yeah, exactly. Well, thank you so much for your time. EMILY G: I'm just so excited about this project. It's such a cool idea to connect our families and our greatest strength is our community and we have so much to learn from one another. And I think we'll learn more about the medical stuff behind it and that will grow. But right now, the biggest impact for me has been connecting with the families. EMILY B: Thanks for listening. PODCAST EXIT: Please reach out if you have any other topics you would like us to discuss or if you want to be a guest on the show. If you are diagnosed with Skraban-Deardorff syndrome, or you're the caregiver of a person with Skraban-Deardorff, please connect with us. Our community can currently be found on Facebook at WDR26-related diagnosis. You will need to request to join our private group, but we will be happy to support you and your family. Talk soon!
Episode 3
Lisa Patterson: Raising a SKDEAS teenager and the importance of self-care
PODCAST INTRODUCTION: This is Emily Beauclair and you're listening to the Smiles Included podcast, Navigating Through Life with our Rare Disease Superheroes. Welcome everybody. This podcast is being published one week away from our Skraban-Deardorff family conference, so I still promise that I'm going to bring back speakers and info from that meeting because there's so much great stuff going on in this community and so many opportunities to get involved to raise awareness and to make a difference. And on that note, my guest today is actually the President of our Skraban-Deardorff Syndrome Foundation, Lisa Patterson. Lisa is a mom to one of the older children that's been diagnosed with Skraban-Deardorff and she shares stories, a glimpse into the life of an older child. Something I found really valuable as well was where does she see her daughter in the future? But she also took the time to give some advice that I really took to heart as a parent, and I hope it helps a lot of the other parents that are listening. I had planned to talk to Lisa about her role as President of the Skraban-Deardorff Syndrome Foundation, but we went so long in our conversation that I really just needed a reason to make her come back and do a part two. So, she can tell us all about the great work that she's leading for the foundation because it really is an exciting time to be a part of this community. Lisa makes reference a couple of times to a video that one of our Skraban-Deardorff dads, Tomas, is actually creating to help drive awareness for the syndrome and I cannot wait for that to be ready because it's one of the great tools that's going to be used to help drive awareness. I hope you enjoy this discussion. INTERVIEW EMILY: Hi Lisa, so thank you for joining the podcast today and I'm very excited to talk to you. LISA: Hi Emily, I'm so glad to be here. Thanks for having me. EMILY: Of course, and I can't wait to hear about your journey. So why don't you start off with telling us a little bit about your family and about your daughter. LISA: Sure, I have two children. My elder child is in college and my younger child is Audrey who is 17 and she has the Skraban-Deardorff Syndrome diagnosis and she's one of the older kids who has that diagnosis and it's kind of funny the way it came about was we knew that something was up and she was little and we had genetic testing and we weren't getting any answers and I just decided to stop. You know after years she was being followed by so many specialists and I just thought I just I have to simplify my life somehow. So we stopped doing genetics for like maybe 10 years and then finally one of our doctors said - you know you really should start genetics up again because they make so much progress so quickly - and so that's what we did and she was 16 years old and we went back and they did the full genome sequencing and then we got the diagnosis and I was I was shocked and stunned. EMILY: Yeah, I had to wait a few years to get a diagnosis so I can't imagine what it was like for you having to go through 16 years not knowing what's causing all the delays and not really knowing about her future that had to be so difficult. LISA: It was really, really difficult and I just kind of justified it in my head by saying it doesn't really matter what if there's diagnosis or no diagnosis because we'd be doing everything the same anyway and that's kind of the way I feel about after the diagnosis you know it didn't really change anything that we were doing, but it is huge to have a community now. And also, you know you said something about in your interview for the video you said something about how it was a mixture of relief and grief, and the relief part I can't understand because I really did go through that whole you know was it something did I eat was it my diet should I have never gone down that water slide when I was three months pregnant - like all the dumb things you think of like what did I do you know just knowing that it's a random thing that could happen to anybody is a real relief. And then the grief part like I you know because she was 16 when she got the diagnosis, I had already grieved, you know, I had already I already done that. EMILY: Yeah, but I mean I'm right there with you about the relief and thinking that it was something that maybe I did and feeling a lot better. You're saying water slide, I was like, did I walk too much? And it's stuff that obviously had no impact, but it was a relief to finally get that part of the diagnosis out of the way. But not having the diagnosis and then not having a community to turn to. And now we even have social media to talk to other parents that have kids that similar diagnosis is, you know, what did you do? What did you do when Audrey was growing up? Like, who did you turn to? LISA: You know, I have to tell you a funny story. I was really lucky. I had a babysitter that I actually hired while I was pregnant because my last babysitter, my other kid got a new job or retired or something. And so, I had to hire somebody new. And that babysitter is still with us 17 years later. She's amazing. And I remember one time she came home from the supermarket. She was so excited she came to our house from the supermarket. And she said, “I made a new friend for you.” I'm like, what? And she said, “I saw a lady in the supermarket. She had a little girl that reminded me so much of Audrey. And I just stopped her and got her phone number and her name.” And we're friends to this day, you know, EMILY: Really? You called her? That's so funny. LISA: Oh, absolutely. Absolutely. We're friends to this day. And, you know, she has a different diagnosis. It's not the same thing. But, you know, I do have a community of friends whose kids have a broad variety of diagnoses. Some are cerebral palsy, some it's Down syndrome, some it's RETS, some it's another kind of rare genetic difference. And I think that community is not as specific as our community because we all have the same diagnosis. But even within our community, it varies so much. So, I think it's just kind of a subtle difference. EMILY: Oh, absolutely. I've noticed so many other kids with other diseases or syndromes exhibit so many of the same symptoms as our kids. LISA: I have to say the other thing is that the video that Tomas made in Brazil is stunning because when you hear all these families from all around the world and they all say the same thing that we've been through, like how their kid loves hippotherapy, I'm like, oh my gosh, my kid loves hippotherapy. It would have been nicer if, you know, we've had this community, I didn't have to just stumble upon hippotherapy myself, but somebody pointed us in the right direction that I think might have been helpful. EMILY: I had no idea about hippotherapy. And now I'm looking into it for my son. I just started researching this week to try to find a location that will do it because I heard so many of our kids love it. And it's really helpful. LISA: This is my favorite hippotherapy story. One time, Audrey was on the horse. And sometimes she does this fake sneeze. It's like she tries to do it to get a reaction. But anyway, so she's on the horse and she goes, atchoo, and then the horse sneezed. And I think what happened was she knew the horse was going to sneeze because she had such a relationship with that horse, like she felt it. Before you sneeze, you go like, you know, whatever. And she felt it just from sitting on the back of the horse. She knew it was going to sneeze. And that was her way of telling us that the horse is going to sneeze right now. And I just thought, Oh my gosh, she's communicating on a level that I can't even fathom. EMILY: Yeah. So how does your daughter communicate with you now? LISA: It's really a hodgepodge. She does single word utterances, like no, no is the word. And that way she's a very typical child. And there's some -like no- everybody can understand. She says morning. Morning, people understand that or thank you, people understand that even though she doesn't really get the consonants the way she should, then there's a bunch of things that only I understand or only her close family understands. Then she does isolated signs like music and dance and some, you know, there's just some signs that she just does cat, dog. She knows over a hundred signs, but there's about 20 of them that she'll do more regularly. And then she has an augmentative device that she uses at school, but we haven't really been able to use it at home because she gets, she has ADHD and she gets distracted. So, by the time she's moving from folded or folder, she's lost the thread of what she wanted to tell me. B it's there if she needs it, you know, and then she does get her point across just from gesturing and sheer force of will. EMILY: I mean, the amount of things that count as communication is huge. We're using AAC and the augmentative device and just starting out that journey to try to have Joe speak to us. And it's hard. And I wouldn't be surprised if Joe has ADHD too. And I don't know if that's normal for our children, but that kid has an insane amount of energy and cannot concentrate, but he's also four. So there's that. LISA: Yeah, I will say that that was a tough thing when we got the diagnosis, and she is on Ritalin now. And you know, you try to kind of avoid medications. Because I think she has like eight different prescriptions that she's on because she has acid reflux. She has allergies year-round, you know, the ADHD, anxiety, you know, so it's just, you know, that alone keeping track of the prescriptions and that alone is a full-time job. EMILY: One thing that I’m also very interested to hear your point of view, because now is actually a good time to be raising a special needs child because people are much more empathetic now. I don't know what happens, but kindness is a big thing that kids are learning. I know that everybody is, but it's like cool to hang out with the kid that needs some special help. That's my experience right now. LISA: I'm so glad that that's your experience because that has not been my experience. EMILY: I was afraid you were going to say that because I'm just thinking back to my childhood and seeing those kids that would have an aid walking around the hallways and I wasn't mean, but I wasn't friends with them at all. LISA: You know she has been made fun of and bullied mostly by her own cousins, frankly. But my dad would be like, ah, they're just kids. And I'm like, this is not acceptable. But anyway, she’s happily oblivious to it. EMILY: Yeah, yeah. LISA: She's completely oblivious to it just breaks my heart, but she loves other kids so much. And, you know, it's been, it's really been a lot of work for her to understand about giving kids personal space, because she wants to be real close to them or she wants to hug or whatever. But I hear what you're saying about the time and I will say that one of the interesting things I learned through this journey has been that disability rights have stemmed directly from the civil rights movement. And I never would have in my mind connected those two things. But a lot of disability rights are thanks to equality of all kinds, including racial equality. And, you know, the civil rights movement was 70 years ago and we're still not there. But we're getting there. And like you said, I don't think it's a good time, but I think it's a better time, I want to say. EMILY: Yeah, yeah. LISA: Because I work in the theater and now, you know, there's been a real push to having actors with disabilities on stage. And I saw two or three shows just this season who had differently abled actors on stage. And, and it's just a great thing to say because it more reflects the society that we're living in. EMILY: I love hearing that. And I hope it only gets better as, you know, we're fighting for everyone to have equal rights and disability is one of those, one of those causes that needs to have equal rights as well. And like, even I struggle and have to check my ableism is the new term. But it's true. I mean, we went to a park this weekend and the first thing I noticed was that it was wheelchair accessible. That's something I never paid attention to in the past or cared about. LISA: But even, even before I had Audrey though, then the autism numbers were just going up so quickly that it was scary. And I just knew the society was going to have to make some big changes because the number of people in our society who have a different ability is only growing. It's not getting smaller. And that's not just from autism. It's also from the fact that people are living longer. Right. So the baby boomers are up there in age now and we need to accommodate them. So, I think we're coming along. EMILY: That's very true. And I mean, for you as having one of the children that's older, do you have any advice for us with the with the younger children just starting out our journey? LISA: You know, one of the things I have to say when I listened to the first episode of this podcast, it totally like I just started crying was when you interviewed Cynthia and she was, I think she said something like, I definitely recommend ABA. And I kind of got upset because I was like, you know, maybe I didn't do enough ABA with my daughter. But that kind of statement actually is a very vague statement because there's a whole spectrum of ABA and how intense it could be. And the more intense ABA, the more controversial it is. So anyway, I guess what I'm saying is that what might really work for one person might not work for another person. EMILY: And that's very true. We're actually not supportive of ABA in our households, but I keep hearing how it's been working for a lot of the kids with the syndrome. So maybe we do have a discussion about that on the podcast and what is working and what's not for some of these services. LISA: So, the thing that I'm dealing with right now is I was thinking about this as I was getting ready for this interview because I have piles this thick of IEPs and progress reports and the paperwork, it's just overwhelming. EMILY: So, question for you, can you give us permission to throw out some of those? Do we - do you - look at them again? LISA: It's been a journey finding the right school for Audrey. When she first turned three and qualified for special education, they wanted her to go out of district. And I was kind of like, can't we just keep her in district and see how she does? You know, she's very personable. Like she didn't have an autism diagnosis at the time. And so we did it. And of course, that was a huge mistake. And the district didn't know how to handle her. Then she went to this out of district place that was really restrictive. And then luckily, our case manager found this - or I found - the school and the case manager approved her going to the school that she's at now. And she's been there for 10 years. But it was literally the fourth school we tried. So that was torture. But now I am wanting her to go to a different school because she needs the opportunity to be more independent. And I'm having to hire a lawyer and go into arbitration and I'm pulling out all those old progress reports. And that's why I know I have so many papers. I'm a little bit of a pack rat anyway. And I keep that stuff and maybe I don't need to keep it because maybe I could have just contracted the district and said, can you send me the copies of the old progress reports? EMILY: But no, it sounds like I would recommend keeping them because you just never know. LISA: For, I mean, for 10 years, I was so grateful that we had this great school for Audrey, but then when I discovered this other program, I was like, oh my gosh, this is what we should be doing. EMILY: Do you have any advice for parents that are struggling to manage everything that comes with raising a special needs child? LISA: I do. And, you know, to summarize it, the phrase that keeps coming up over and over again is put on your own oxygen mask first before you put on your child's oxygen mask; the instructions that they give you when you're on the airplane. And I think that parents and mothers in particular are so self-confident and selfless, right? We just give to our children because we love them and we want to give to them and we want to help them, but we can't help them if we don't help ourselves first. So, I really think that the message is, is don't ignore your own needs. You have to take time to focus on what you need to be happy and healthy. And then you can help your child. And when I say happy and healthy, like, I feel like some people like happiness is a superfluous thing and it's not, it's a necessary thing. And so you have to think about what makes you happy, what do you do that brings you joy? And then you have to do it. For me, one of the most important things is sleep. Like I just protect my sleep. I need it. I cannot function without it. So, sleep is number one and that's like a fundamental need. That's not even an enjoyment. That's just like a life necessity. EMILY: Yeah, but it's really hard. LISA: It is. It's so hard. It's so hard. And, you know, I confess that I have insomnia some nights because I worry so much and so I take a Xanax and that really helps me sleep or I might take a Benadryl before I go to sleep because I know that that's good for eight hours of sleep. I just know I need it. And, my child was medically fragile when she was younger. Now that you're 17, the scary nights are behind us for the most part. And I feel like I can sleep knowing that everything's going to be okay during the night. And I know that it's hard when your child is younger. EMILY: I think you just made a lot of parents very happy that we will get there. LISA: Yeah, you will get there. My daughter had a subglottic stenosis, which is a narrowing of the airway. And she has allergies. So every allergy season, it was like we ended up in the emergency room, there was strider where breathing was. It was awful, awful - a nightmare for any parent, a nightmare. But she outgrew it. Thank God now we can sleep through the night. And of course we as parents never stop worrying. And so even though we know our child is healthy, we still worry. And for me, that means insomnia sometimes. And I need a little help. I'm very, very dependent on my psychologist, my psychiatrist. You know, I'm on Prozac, I am. I take Xanax as needed. I am not ashamed of these things. I am proud that I have been able to identify things that will help me to take care of myself and my child. And then, what do I love, what brings me joy other than seeing my child thrive; aside from that, what brings me joy? And then I zero in on that and I make sure that I make time for it. EMILY: Yeah, I mean, I agree with you because your kid will know if you're not happy. And it will reflect on them. So it is important to take the time. And you mentioned seeing therapists, anyone in my family that listens to this will tell me that I need to do that immediately. I need to sometimes talk to somebody else. Yes, I think it really is important. And I think that's good advice to listen to as well. LISA: Yeah, I can't believe you're not seeing somebody already. Which shows a certain level of fortitude, right? Like we, as mothers are incredibly strong, like we are pulling from the depths of our strength and our endurance and our fortitude. And we're thinking practically too, we're thinking, do I have the time to see a doctor just for myself? And do I have the resources because it costs time and money? But frankly, it's time and money very well spent. You're like the tiger mom advocating for your child, really the number one thing you must advocate for is yourself. EMILY: We make so much time for our children to take them to all these doctor's appointments or to take them to the things that they enjoy. And you're right, we need to add the time for ourselves to go to the doctor's appointments and the things that we enjoy. LISA: Oh my gosh, you have to pay attention to your own physical health, your own emotional health through professionals, medical professionals. But then there's just the fun things, right? Like for me I mentioned that I work in the theater and for me, I'm just in heaven at a Broadway musical. Like that's my thing, it's escapist, but it's challenging in its own way. And so I just make sure that I could do that. And I also want to say call me, just call me. If you want to talk, call me. EMILY: Well, I mean, that's a really good point too, because thank you. Thank you for volunteering that. It's like talking to somebody that knows that I'm going through is also important. I really appreciate that. LISA: You know, as we're talking, we're just talking about our everyday life and we're laughing about, you know, the challenges that we have. But honest to God, we are dealing with life and death. I saw this comic strip once it was like, I think it was on social media, it was like, sometimes I feel like I'm in season seven of my life where the writers are just making up crazy shit. Because they don't know what else to do with the plot. Like, yeah, that's me. You know, you can't make this stuff up. EMILY: You have to laugh to get through it. LISA: It's really, really hard. And then, and but you get it, you get it thrown at you and you're like, okay, what do I do to get through it? You know, first of all, take a moment to be proud of yourself. You know, you have to say, I just made it through that, and a lot of people couldn't. And then once you take time to pat yourself on the back, because other people don't really, you know, you kind of have to do it for yourself. EMILY: Yeah. LISA: Once you do that, you have to, you have to reward yourself. EMILY: Can you walk me through a typical day in Audrey's life? LISA: Yes. Let's start with waking up. I'll wake her up at around seven. She sleeps with a pull-up on and depending on her mood, it's hard to get her out of bed. I want her to be independent, but if the bus is coming for school, I can't wait around for her to leisurely get out of bed and maybe leisurely. EMILY: That kind of sounds like most teenagers. LISA: Exactly. So it's a little bit of a battle in the morning getting her ready for school. I have to be very creative. I have to say, oh my gosh, you're going to see your friends and I have to start naming her friends. And then that kind of wakes her up and gets her excited to do her morning routine, which is taking off the pull-up and cleaning herself and getting dressed and brushing her teeth and going downstairs and taking her medicine and having some breakfast. And oftentimes I can't get her to stay seated at the table because she wants to go and get on the bus, which isn't there yet. I have to say it wasn't here yet. She's back down, finish eating or whatever. Sometimes I have to stand right next to her to keep her in her seat. And I would have also prepared her lunch the night before because I know that I can't do it while she's around because she'll get... I have to keep the door locked from the inside and take the key because she knows that I open the door with the key. Or else, like this morning, she let herself out of the house and ran halfway down the street and I had to run after her and bring her back to the house to get her backpack and her mask on for the bus to come. So then once she gets on the bus, I go...Whew! And then I have a little bit of time to do some paperwork and catch up on emails before I start working. And then happily, my babysitter gets her off the bus and gives her a snack and stays with her until I'm done work, which is usually around 5:30. And then I come downstairs, make dinner, and she's in bed usually by 7:00. So I'm really lucky that I just have those two times at the beginning and the end of the day. But that's probably a typical day. And again, I had the same struggle with the nighttime routine as I do with the morning routine in terms of trying to get her to do it herself and efficiently and with as little prompting as possible. And we've done years and years of behavior therapy. I'm trying to get her to be independent that way because she can dress herself and undress herself. But unless she's earning, like we have a little earning board, then she's just not motivated to do it herself. And then she has tons of doctor's appointments all the time. She's doing vision therapy now. So tomorrow I have to take her an hour away to vision therapy. So that's... When I say I'm lucky that I only have the morning routine and the nighttime routine, I do have all weekends and all school breaks and all doctor's appointments and all. It's still really hard, but I feel very lucky to have the support that I have. EMILY: Yeah, that's nice. And sometimes those weekends feel never-ending. LISA: I have to make sure that every weekend is planned because if I have a day with nothing to do, it could be a complete nightmare. EMILY: I hear you. I'm in that spot too where my child doesn't really watch TV. LISA: I will say Audrey, it's bad, but she loves to watch YouTube. And she loves... So that... I can get her to watch YouTube while I'm cooking dinner, for example, on an iPad. And she watches the same things over and over. She loves musical theater and ballet. Those are her two big things. And so usually our weekends involve a live performance, which I wish she had a less expensive hobby, but whatever. EMILY: I hear so many of our kids love music. And actually, Joe does watch one show. He watches The Wiggles and he loves the ballet. So, it's interesting that you say that about your daughter. There's just something about music with these kids. LISA: It is. I will tell you two things that I've learned through Audrey. And one is you were saying earlier about the number of ways that our kids communicate, right? And I rattled off a couple. But in dance, dance is nonverbal communication. It's full body communication. And the music that accompanies dance also communicates a mood. And I think that's one of the reasons why our kids gravitate to music and dance because they don't have to try to decipher spoken language. And the other thing I will say is that all children are born with this ability to read body language, facial expression, tone of voice. And as we get older, if we're typically developing, we start to lose that ability because we've learned how to understand language. And I've always said that my daughter is a walking lie detector because she can tell about a person from their facial expression, their body language, and their tone of voice, which is more telling them what might come out of somebody's mouth, which may or may not be true. EMILY: That's very interesting. LISA: It is fascinating because she has the sixth sense that she knows who to go up to and who not to go up to. It's unfailing. The other thing I'll say about music is that this experience once where I was in the doctor's office or something and a man had a child with a disability in a wheelchair and he had a little like CD player or something on the back of the wheelchair playing a song. He said, “I don’t know why, but my daughter loves music.” And I said, let me tell you why. Because in a world that doesn't seem to make any sense at all, you just don't understand what's going to happen next. It's scary. You don't know what to expect. Songs have structure. They have beginning, middle, end. They have the bridge, the chorus. They have a structure and you know what to expect. And it adds predictability to an otherwise completely chaotic world. EMILY: That's so beautifully put. LISA: I think I've thought about it a lot just because since I've worked in the performing arts and I've just, you know, there's art as therapy out there that I've done a lot of research about and I've just spent a lot of time thinking about it. EMILY: You've just made me totally rethink the importance of music and art therapy. And it also sounds like you have an amazing babysitter that helps you out. LISA: You know, I don't want to paint a totally rosy picture. I mean, honestly, I have an internal struggle all the time because I'm like, oh, why am I so dependent on this other person? I wish I could do it all myself. We do that. You know, I wish I was superwoman, and I could do it all. And it's been very hard for me to admit that I can't. And I have to rely this other person and that's kind of like admitting a weakness. I do feel very lucky to have somebody I can count on, but it's not ideal. It's never ideal. It's not going to be ideal. You know, I just feel like parenthood is kind of like just getting through it. Isn't that a terrible thing to say? EMILY: It's true. Just making it through each day. LISA: Yeah, and it shouldn't be that way, right? Because each day should have a point of joy and fulfillment. And I think it's up to each individual to find that within themselves and within their day. And whether it's that you had a meaningful conversation with somebody or that you just took time to appreciate nature, whatever it is you have to provide that for yourself because nobody else really provides it for you. I mean, I will say the one other thing that is a driving force in my life, whether I have a child with disabilities or not, is that I honestly believe that the reason that we're put on this earth is to help others. You know, whether it's your child or whether it's, I think the people that my child brings joy to, that's helping others too. And I just feel like if you keep your eye on the prize, which is helping others on their journey, then you can't go wrong. EMILY: Yeah, sometimes I look at Joe and like, I know his purpose. He makes everybody happy. And like, he's changing lives every time you meet somebody, making people think differently. LISA: I cannot count the number of times that after Audrey approaches a complete stranger on the street and connects with them in a really profound way, that that person turns to me and says, she just made my day. I really needed that. And I just feel like that's a blessing. EMILY: It most definitely is. Is there anywhere else that you turn to for support? LISA: You know, I was brought up Catholic and I kind of stopped going to church, you know, and I started going to church again on Sundays and Audrey loves church because she loves the music, and she loves the fellowship and she loves the spirit of it. And I just find - I go to two different churches - and I just find like my church families are so supportive and really helpful. And I surprised myself. I wasn't expecting it. There's an expression. There are no atheists in a foxhole. Have you ever heard that expression? EMILY: No, I haven't. LISA: Imagine you're fighting in a battle, like in a war, and you're in a foxhole, and you're shooting at people, and people are shooting at you, and you're pretty sure you're going to die. And what are you going to do, right? You're going to pray. I feel like, you know, raising a child with special needs, especially one who is medically fragile, is like being in a foxhole. Because life and death is in the balance. And there are no atheists in a foxhole. Who do you turn to when you're in such a dire situation? You know, you turn to God. You know, regardless of whether you believe in God, whether you don't believe in God, what you're going to believe in is spirituality and the goodness, the fundamental goodness of people to help you. And at the same time, you're helping them. EMILY: I like that expression as a way to explain what we're going through in our situation. So the last thing I want to ask you about is the future, because the next, you know, 10 to 20 years for me, I'm really focused on school. But for you, you're coming towards the end of that journey. So I'm just wondering where you see Audrey in the next, you know, five to 10 years. LISA: Yeah, it's funny. We had a really great speech therapist a while back and I asked her, just tell me what do you think, you know, what do you think is going to happen? Like, nobody wants to tell you because it's not good news. I said, do you think she'll ever be able to read? She said, well, she might be able to have some sight words, like short sight words. And so now here she is 17. She canin school, she could tell which name is hers on a sticker, like if she had to pick a sticker, this at Audrey, she could pick it. And she could hand the other kids theirs to like she recognizes their names. But she, academically, it's, you know, it's very discouraging. This year that she's in right now is the equivalent of her junior year of high school. So, she has one more year of high school. And then in New Jersey, I don't know what it's like in other states, but in New Jersey, you stay in the education system until June of your 21st year. And or June of your 22nd year. So it would be the June after your 21st birthday. And so the period from graduating high school and when you're 21 is called transition. And that's when you kind of stop working on academics and start working on life skills and vocation. I mean, they work on life skills all the time anyway, but New Jersey is what's called a work first state. And the goal is that every person over the age of 21 has a job that they get paid for. And so I'm hoping that we could find a job like that for Audrey. Like I think that she would be great working with the elderly, for example, because she just brings a smile to everybody's face just like Joe does. And I just feel that she, you know, if any people were lonely or whatever, she just engages with people. She gets people to laugh. And I just think there are moments like that that I just know there's a place for her where she can really bring joy to people who need it. So that's kind of where I see her. I see her maybe living in a group home and maybe working part time doing something like that. EMILY: Wow. So that's really interesting. I've always been thinking more about a trade, but just bringing a smile to the elderly's face or anyone's face is if that could be if that could be their jobs, they'd be they'd be the best at them. LISA: Yeah I mean, I love the fact that sometimes we've gone in to bring Audrey for surgery and they'll be like a guy playing the guitar in the waiting room. You know, that is so amazing. Or, I mentioned arts therapy before, for art therapists to come into your room and, I've seen it through my work time and again how your mood just changes because people just need human interaction and to be stimulated and to be creative. EMILY: Therapy kids. LISA: Yeah, yes. PODCAST EXIT EMILY: Thanks for listening. I hope you found today's topic helpful in your rare disease journey. If there are any other topics you want me to discuss or if you want to be a guest on the show, please reach out to me via the email included in the show description. Talk soon.
Bailey Wallace Lara: The sibling experience and being at peace with the diagnosis
Episode 4
PODCAST INTRODUCTION: This is Emily Beauclair and you're listening to the Smiles Included podcast, navigating through life with our rare disease superheroes. Hi everybody. Today is August 14th, 2022 and the Skraban-Deardorff Family Conference was two weeks ago now and I have a backlog of guests that are going to be coming on this show and sharing their stories or maybe giving us some of the information that they shared with us at the family conference. I'm hoping that some of you that weren't able to attend will feel like you're getting some of the support and information that we received at the conference. One thing that I absolutely cannot accurately put into words is what happens with the kids meeting each other. There was just an instant bond with many of these kids and I think a lot of us parents just felt very comfortable in the room. You know, our kids have behaviors and they're very touchy-feely and loving but everybody embraced it. These kids could just be who they are and everybody celebrated it and that was just an amazing experience to have as a parent and just kind of some relief of letting our kids be kids and I just felt a sense of normalcy of just letting them play with friends which I feel like I never get. It was just comfortable to be in the room together. One thing that I learned at this conference is that the parents of Skraban-Deardorff kids are fierce and they're protective and not just when it comes to their own kids. Multiple parents that I spoke with said that they felt that all of the kids that are impacted by Skraban-Deardorff feel like their kids. We so badly want them to reach their potential. We want to celebrate their success and even when we know that someone's going through a hardship, our heart breaks for the parents and for the kids as well. For those of you that could not attend, I hope you're on our social media sites. I will put all the links in the show notes because there's just been a huge increase in activity and photos from people all over the world and I will also include a link to the YouTube video that is a must watch. Just make sure that you have lots of tissues by your side. If you're not on social media, the foundation launched a new website, skdeas.org, which is fantastic. And there are people’s names on there that you can always connect with. My information is in the show notes. Even the guest today is a perfect example of how all of us want to support each other. Another thing that really stood out at this conference was how amazing the siblings are. There were a lot of siblings in attendance. They didn't have to be there. They did not have to sit there for hours listening to genetic presentations, but they wanted to be there to support their parents, their family, and their sibling that has Skraban-Deardorff. They also want to see other kids that are impacted. It's just further proof of my theory that siblings of these rare children are amazing human beings and will go out into the world and be advocates. Speaking of which, that is why I wanted to talk to my guest today. Bailey Wallace is the mom to three amazing children, one of which is impacted by Skraban-Deardorff. So she talks to us about the sibling experience, but goes into so much more and I found her story very inspirational. Please enjoy. INTERVIEW EMILY: Welcome to the podcast, Bailey. I know you were at the family conference and I definitely want to talk more about that, but first tell me a little bit about your family and your daughter. BAILEY: Okay, well, me and my husband live in the Los Angeles area and we have three kids. Sebastian's our oldest. He's 17.5 and a senior in high school now. And then we have the twin girls, they're 9.5, Brooklyn and Scarlett, fraternal twins, of course. We were born and raised here in Los Angeles and, you know, we both work full-time. The kids are in school. We're a typical busy family. EMILY: Yeah, and you traveled a really long way to get to the conference all the way in Philly, so a lot of families weren't able to do that, so that's pretty nice. And I love that you brought your entire family, which is pretty amazing. BAILEY: Well, I felt like we all had to come, even though, you know, it was difficult to afford the trip and, you know, we did have like a GoFundMe and some family members kind of give us some gifts to help us make it happen. But when we talked about maybe me and Brooklyn going, it just was kind of out of the question because this is something that has affected all of us and the whole family's been on board with this whole journey and I think it was just really important to include everyone. EMILY: That was one of the things that I was most amazed about was the number of siblings that felt like they needed to participate and I will tell you I was paying special attention to your family because I am a twin as well, so it was interesting to see the dynamic between your daughters and I definitely want to talk a little bit more about that. But first, can you give me some of your thoughts or takeaways from the conference? BAILEY: You know, I really wasn't expecting to learn too much or anything like that or, you know, I was just mostly there for the community. Just these other parents that we've been sharing our lives with, I was just very very eager to meet the other kids and it was just really wonderful to see the other kids and just meet them and see what they're like. I think that's what we were most excited about and, you know, it was just really wonderful to be there. EMILY: Do you have a favorite experience that you can share with us from that weekend? BAILEY: I think the moment that we started including the dance parties in between each of the speakers is when I really saw all the kids coming to life and just like really coming out of their shell and I think that was my favorite part, just seeing how much they love dancing and just like being their true selves. EMILY: Yeah, I think a lot of the sitting and listening to the genetics portion was a bit much for a lot of the kids. I was very impressed that a lot of them sat through it. So I was glad that they put in some of those dance parties. What were some of the beneficial things that you learned from the conference? BAILEY: Well, I think I was really interested in seeing what it's like for the older kids. You know, most of the diagnosis seemed to be younger children. So I was very interested in anyone who's older than Brooklyn, just, you know, learning about what they're like and what their life is like and what they do. And so that is what I found very interesting because, you know, as Brooklyn being one of the older kids, I think we're a resource for a lot of the younger families, but there's not as many older kids to kind of to look at and just, I don't know, I guess just get an idea of what life will be like. So it was really interesting to meet the older kids. EMILY: Yeah, I look to you as having one of the older kids. So I love to hear, you know, your stories and what you're going through. Because I think we all just want to know what our kids are going to be like as adults. And I unfortunately don't think any of us have that answer yet. But we do know that they will be very happy. BAILEY: Yes, like I just love how happy they are. Sometimes I wish I could just be that happy. EMILY: I know. Okay, last question about the conference. Is there anything that you think you're going to be doing differently, like maybe with your therapies, just based on what you heard at the conference? BAILEY: Yeah, just hearing Sherri, Allie’s mom, kind of talk about the ABA therapy. You know, I know we've done some ABA therapy therapy to some extent. And we didn't follow through with it because it just could be a little bit much. But just seeing and hearing about the life skills that it was teaching Allie, it really makes me want to give it another try. And I know Katie said that she would help us with like this letter that we need to be able to get those therapies. So I'm giving it a second thought. EMILY: Same. And prior to going to that conference, my family was very against ABA, just because of some of the controversial things that we've heard about it. But just hearing how so many of the Skraban-Deardorff kids benefit from ABA. And it sounds like it has changed a lot since some of what I've heard about it. So I definitely am going to explore it a bit more. And Sherri is actually going to be on a future podcast because she spoke about potty training at the conference. And that's something that a lot of us as parents are really struggling with. So I'm hoping that some of her advice can help us all out. BAILEY: Yeah, I mean, same here. I think Brooklyn is one of the older kids that is still not potty trained. She's definitely the only one in her school that's in diapers. And it's something that I mean, I've successfully potty trained two kids. So I kind of know what it takes. And we've tried a lot of things, but it just, she does, she doesn't have any cues. We've tried with a lot of tears, a lot of frustration. So hearing what Sherri had to say on potty training was really helpful. And it just kind of gave me the second wind that I needed to want to try again. EMILY: Yeah, I hope you're successful. I can't imagine having to deal with diapers as a teenager. And I'm hoping that we're not there. It's just, yeah, my son shows no signs of wanting to be potty trained or even caring. So I get where you're coming from. BAILEY: Yeah, and then we, you know, as a Brooklyn being a female, you know, we worry about other things that eventually will be happening with menstruation. It just, that's something I would love to talk to some of the other parents about, you know, that's just, just something we're thinking about that we know is going to happen. And I'm like, well, maybe it's better she's still in diapers. I don't know. We're not really pushing the potty training right now either. We've just kind of accepted it, but I really need to like kind of get back on it again. And I just wonder if it has something to do with muscle issues, you know, the hypotonia and all of that, because she just seems to have no awareness. Just looking at me straight in the eyes while going to the bathroom. And, you know, the other kids would like hide behind couches and just show some signs. And she doesn't seem to have any bladder control. I don't know. EMILY: Yeah. BAILEY: So we'll see. EMILY: Yep. I'm right there with you. BAILEY: Yeah. EMILY: Oh, God, I'm not looking forward to that. But I think we're going to, we're going to attempt it over the next couple of weeks and see how it goes. BAILEY: Yeah. Yeah. I totally gave up on it for a while. But I know it's summertime. So whenever it's summer, you know, I'm like, oh, this is a good time to do that. But I didn't try this summer. EMILY: Yeah. BAILEY: Maybe next summer. EMILY: So just in talking a little bit more about Brooklyn, how old was she when she was diagnosed? BAILEY: She was 4.5 or 4, so that was 2018. Oh, wait, no, she was 5. OK, so four years ago, she was diagnosed in 2018. So she yeah, she was 5. EMILY: When you got the diagnosis, what were some of the things that went through your head? BAILEY: Well, you know, so for that first five years, it was just kind of an endless search of like, what's going on? What is this, you know? And so. Some neurologists were throwing around the term XALD and it's degenerative. It's pretty serious. It's, you know, not a very long life expectancy, pretty horrible disease. And so when they were throwing around this term and testing her for it, you know, I was preparing myself for the worst case scenario. And for a few months, it was a very dark time while we waited for those test results. And I just kept thinking, she doesn't look like she's, it's degenerative. She looks like she's making progress. But then they say it's got a lot, like a late onset. So it kind of happens later and then it happens very quickly. And then I saw the movie, Lorenzo's Oil. And so it was a very difficult time. So then they came back, said it's not XALD. I'm like, oh, thank goodness. And then I kind of just accepted like whatever this is, it's going to be better than what I thought. EMILY: Yeah. BAILEY: So then shortly after that, they said, OK, there's one more test we can do and we did the test. And then this popped up. So when I got the diagnosis, I was relieved. I was OK with it. At first. And then it was just kind of hard, you know, at first wrapping my mind around it. I had a hard time. I hate to admit. It was just, you know, I started kind of grieving a future that, you know, I thought was there that it was different now. And it just took me a little while to kind of embrace it. And so it's a little shameful and a little interesting how hard it was for me at first. Like it was good and then it was bad. And then it got a little bit worse. But now I have totally accepted it and not only have I accepted it, but I am thankful for it. And it's a blessing. And, and I, you know, I couldn't have done any of this without my faith in God. But now I look at Brooklyn like a blessing to her family. I'm thankful for, for this diagnosis. And I never thought I could say that, but I'm truly at a place where I feel like she has made my marriage better. She has strengthened our family dynamic. She has had positive effects on the way our family communicates. And she's truly blessed us. And I still am amazed that I feel that way to this day, considering the roller coaster I've been on. EMILY: You're bringing tears to my eyes. I don't know if I'll ever be where you are. I do celebrate Joe, but I think I'm always going to be very, very angry and never thankful for this diagnosis. But I am thankful for how much, for what the light that Joe brings to our lives that he might not if he didn't have this diagnosis. So there's that. BAILEY: Yeah, that I mean, to be honest, I was depressed for a little while after the diagnosis. I really did crawl into a cave and just, I cried a lot. There and and I do feel shame about how why me, why me? I felt for a long time. Like I was just like, why can't things just be normal? Why are things so hard? Why am I at the doctors all the time? Why is she always crying? Why can't I get any sleep? Why me? Why me? And I got real depressed for a while and. And it was just so hard. But then, and I know it's hard for me to talk about this to some people. But, you know, with all the hard times, I just started leaning into God. And that's where I found all my strength. And so, and our whole family's kind of changed directions. I mean, we were always kind of churchgoers, but now we're just like, we spend a lot of time at church. We volunteer all the time. We serve, we volunteer on campus. We belong to Bible study groups. Our kids are really active in the church. And so through Brooklyn's diagnosis, I started leaning into God, into my church for support. And I now have a peace inside of me that I never had before. And then just to be able to say that I'm thankful for the way that she is, this kind of feels like a miracle because I just never thought I would get there after being so depressed four years ago. And I guess it makes it a little bit easier, the fact that I have the other two children because my son's applying for colleges and he's going through all that, that I get to experience with him. And I have a son and I have a daughter and I get to experience these different things through them. And then I also have Brooklyn, who's my little angel. And we have our struggles, but I think I get to experience a little bit of everything, having this special child that has made me act different and live a different life. And then my neurotypical children that get to have normal experiences–normal, quote, unquote. EMILY: That's a beautiful take on this. And I hope that a lot of us can get there someday. What kind of relationship does Brooklyn have with her siblings? BAILEY: It's a very sweet relationship. When I first found out I was having twins, I was terrified. And I just thought, oh my goodness, this is a lot. And it was a lot. And I would just think, oh, this is just too much, twins on top of a special needs daughter. It's too much. It's just a lot. But then as they got older, I realized, everything happens for a reason. And I was so thankful that Brooklyn had a twin sister because she's always there for her. It's like she always has a partner. It's like, they're in the same grade. So they kind of have the same schedule and they kind of are interested in the same thing still, kind of. They sleep in the same room. And then there's not a huge age difference or anything. So it makes sense for them. And I guess if I had a daughter and a son and maybe they wouldn't want to share a room or I don't know, it just kind of, it just really kind of works. And Scarlett's so helpful with her sister. I think also Scarlett enjoys having someone around all the time, that she, so she doesn't feel alone. So she doesn't have to sleep alone in a room so that she kind of has someone she can kind of play with and tell her what to do. And Brooklyn doesn't argue with her or push back. So when she wants to play with her, she can kind of play with her and maybe boss her around a little bit. And Brooklyn just goes with the flow, you know? And I think Scarlett does appreciate having that playmate. But then also expresses to me that she wishes that she just had like a sister she could talk to. And so, you know, I do realize that, you know, she wishes she could stay up late at night talking with her sister, maybe talking about boys or TV shows or whatever. And she doesn't have that. But they still very much play together, interact with each other. Scarlett gets annoyed. She gets pretty annoyed when Brooklyn's like screeching or maybe we're not communicating. We don't understand what she's trying to communicate. And it can get very frustrating. Brooklyn cries really loudly sometimes. She doesn't like that. Brooklyn gets frustrated and just makes her loud noises. Scarlett really doesn't like that. But Sebastian, on the other hand, has a very sweet way with diffusing her when Brooklyn gets very upset and she kind of will get very loud for about two minutes. And maybe I get a little panicky and I'm like, I don't know, I don't know what you want. And then Sebastian can come in in his very sweet way and just like, he just holds her or he makes her laugh. And like I tell him, you just have a special way to diffuse the situation when he sees that I'm so frustrated. And he's just very supportive of her and very sweet with her, very patient and kind with Brooklyn. And they have a really nice dynamic. And it's funny though, because Sebastian will kind of pick on Scarlett like brothers and sisters do. But he doesn't pick on Brooklyn. But he picks on his sister in a very cute kind of healthy way that I think siblings do. In a playful way though, they don't really bicker and argue like I did with my brothers and sister. I tell her he picks on you in a healthy amount. Like brothers and sisters should. So you can get a thick skin, you know. EMILY: Exactly. BAILEY: They're all really great with each other, actually. They don't really fight or anything. I think Sebastian and Scarlett see that sometimes we kind of have our hands full. And I feel bad to say that they can be a little accommodating. When they see how much we deal with, they try not to be difficult. Yeah, I hate to use the word accommodating because they're children and they should be children, but they're very understanding. EMILY: I am convinced that siblings of these special kids are better people because of it. From what you're saying, that sounds very true. Both of your other kids, well, I mean, all three of your kids sound amazing, but just the relationship that they have and understanding what you and your husband are going through, I think it's very special. So how does Brooklyn communicate? BAILEY: I think that's her biggest challenge. She has sounds, she has some words. She has a few really short sentences like, she likes pop cereal. She could say, “I want pops”. She could say, you know, “hi, dad”, “bye, mom”, pretty clearly. But there's some other sentences that she says that maybe we understand, or she's copying someone what they're saying. And so I can understand the intonation in the sentence and kind of the pattern of what I think she's trying to say, but it's not clear to anyone. Like maybe it's a line from a song and we know what she's singing and we could hear that she's really trying to say the words, but she doesn't know how to enunciate. So she has some sounds and she uses quite a bit of sign language for, you know, some basic needs, food related things and stuff like that, all done, more. She has her communication device, which she doesn't like using. The school is really pushing to use the communication device, but it's difficult to navigate. And she does know how to navigate it, but it's not the type of communication she prefers to use. So it's mostly a series of sounds, gestures, some sign language, pointing and grunting, a little bit of all of that. But it's probably our biggest challenge that I wish I could change is just being able to communicate with her. Like today was her second day of school and she came home, got off the bus and she was just blah, blah, blah, blah, blah, blah, just some babbling and I'm just like, yeah, yeah. And I just really wish I knew what she was trying to tell me. And even if I got out her device, she probably, I don't know. So I ask her common questions like, oh, did you go on the swing? Oh, did you see your friends? Did you go on the bus? And she'll babble a little bit and I go, oh, yay. EMILY: Yeah. Do you think that by having a twin sister, it's helped in her overall development and communication? Or do you think she would be where she is right now, regardless? BAILEY: I think it must have helped because not only does she have a constant, she's got someone with her all the time who's talking. And then I'm always talking to the other kids. So she's hearing a lot of language in the house because when it's just me in Brooklyn, I feel like I have to try really hard to be like talking or else it's just too quiet because she doesn't talk. And there's a lot of eye contact or whatever. But, so since Scarlett likes to talk a lot, you know, there's a lot of language going on in the house. And I think also with Scarlett, she was getting exposure to a lot of age appropriate activities, you know, children's museums and the type of indoor play places that are, you know, good for her age that are, you know, age appropriate. So I think, you know, and it's a good thing that Sebastian still is very young at heart because he still likes doing things like going to children's museums with us and doing activities like that that little kids would like, like, all the activities. And so, yeah, I think it must have helped because she was getting a lot of stimulation that was age appropriate. EMILY: So it sounds like Brooklyn is in the same school as, at least Scarlett. BAILEY: Actually, she goes to a different school. Yeah, Scarlett’s school, which is right around the corner from us, said that they don't think, they couldn't give her the kind of support she needed and the kind of accommodation. So she goes to a different school across town and the bus comes and picks her up in front of Scarlett’s school in the morning and then drops her off at home in the afternoon. So she goes to a different school. EMILY: Do they share any of the same friends? BAILEY: So they are in Brownie Girl Scouts together. And, but I wouldn't say they share the same friends because Brooklyn doesn't, I don't know, Brooklyn doesn't really seem to have friends. Maybe she has acquaintances, but... But Scarlett has a lot of close friends. She's got some besties. And I would say that Brooklyn might follow them around during a Girl Scout meeting and they try to include her in some activities to make her feel included. And the Girl Scout troop is very good at, you know, being inclusive with Brooklyn and talking to her and not letting her feel left out. But she just kind of parallel plays with them and just follows them around. EMILY: So I'm sure Scarlett and Sebastian have a lot of friends with a lot of questions and how do they treat Brooklyn? Is it kind of a normal relationship where she's just, you know, the kind of the annoying sister that tags along? BAILEY: I think a little bit with the Girl Scout troop, since they really try to instill like certain types of skills in them. The Girl Scout leader is very adamant that, you know, you know, you're being all inclusive, retreating others with disabilities, with kindness and that sort of thing so that they're really good and patient with her. But sometimes Scarlett will be like talking to her friend and they'll be a little annoyed by Brooklyn, maybe being so loud and her screeching and they both get annoyed. So yeah, maybe like kind of like the little shadow following them around. Or like if we're playing somewhere with a friend at the mall, I'll be like, include your sister, you know, and they do, but maybe they don't want to so much. Maybe it's a little annoying. But Scarlett's still just so understanding and just so, she's very good at just trying to have Brooklyn be involved. Maybe because she doesn't want to hear me say, hey, include your sister. Or maybe she just actually realizes, you know, that, you know, Scarlett's a sweet girl and I think she probably just realizes that it's important for Brooklyn. Brooklyn has feelings and she doesn't say much, but she's very expressive in her eyes and her expression and so you can kind of tell if she's happy or sad or having a good time. EMILY: Do you think your other kids get a little bit jealous of all the attention that you need to give to Brooklyn? BAILEY: I, you know, when Brooklyn was little, she definitely commanded all of the attention with the amount of pain she was in and the crying and the doctor's visits and the ER visits and everything going on with her and them seeing how stressed out I was. I think they tried to stay out of the way and quiet and I used to feel really bad back then about how, you know, when Brooklyn was just crying and crying in pain, like she commanded the attention and the kids just really had no way to, you know, get in my face when it came to that sort of thing. But now I think since Brooklyn's so quiet, maybe she's the one who kind of gets pushed to the side a little bit and then the other two kind of maybe, you know, like at night we're playing board games. We play a lot of board games. Brooklyn's probably the one who feels a little bit left out, not being able to play the board games that the other four of us are playing. And every now and then we'll try to play something that we know she can play, like Memory or we play Lotería, something that Brooklyn actually can play and understand how to play. But most of the time Family Game Night is more like just the fun games that we like to play with the, you know, with my other two kids and my husband. So sometimes I do feel like lately Brooklyn maybe isn't getting as much attention as she used to. And it's more about the other kids. EMILY: Is there any advice that you have for parents that have one child with Skraban-Deardorff and then other children? BAILEY: We really do. We spend a lot of time out of the house just doing different things. Just we really like museums and stuff like that. But I try my best to, I don't know, let the other kids, to do something that makes everyone happy. Like we went to Vegas recently. I was there for work, but we all went and we kind of let everyone pick something they wanted to do. Now the boys went off and they watched a basketball game. My daughter wanted to go on this little gondola boat and we did the Children's Museum for Brooklyn. But everyone kind of enjoyed all the different activities, but then everyone kind of felt like they had a say. And then the same with Philadelphia. We let my daughter pick the aquarium. And my son was just really interested in like eating, but like kind of also wanted to do like the art museum. And so we just made sure that everyone, oh no, he wanted to do the Lego Discovery Center. He likes Legos. So I just wanted to make sure everyone felt like this trip wasn't revolving all around Brooklyn. And just, I don't know, kind of also taking the temperature, you know, just talking to the other kids. Like how do you feel about this and like letting them know how much I appreciate everything they do and just really communicating with them and asking them how they feel about stuff. And also just realizing that they're pretty happy and they're pretty okay with whatever's going on because I guess they see how hard we try, both of us, to make sure that everyone's happy. And so just keeping a good balance. I really let my son get invested in everything he needs, like football and just making sure that I give him the childhood he still has, you know, just, um, just asking like what kind of support do you need like what's important to you, okay, I'll support you in your football activities as much as you need and just really making sure I go out of the way to make that happen for him and then same with Scarlett if she really wants to go on a playdate, you know sometimes I just put my own needs aside and just make sure I give them their childhood experience. EMILY: I mean just listening to all of the things that you spouted off what you did in Philly, what you did in Vegas, it sounds like it sounds somewhat exhausting to me but it sounds like you are just giving all of your kids, all three of them, a very like normal typical fun life. BAILEY: And I think that that probably has a lot to do with my own childhood trauma and being, being raised in a broken household and just how difficult my childhood was and I try extra hard to make sure my kids get a happy childhood. EMILY: Well I can tell you that watching your children sit through the family conference, they are just lovely and you're definitely doing a good job and I just love hearing that you were just working so hard to have a normal existence for all of your children. BAILEY: Yeah you know it is a little exhausting I think we, both me and my husband, push ourselves really hard to we were a very active family though we really like to be out and about and doing things and we get up on a Saturday morning and go for a hike and then go out for lunch and then go to the mall and we're not much of, like we're not much of homebodies and we just like to have activities and just kind of do fun things and we both really still enjoy doing kids stuff like even just renting bikes and going for a ride on the beach, aquariums, museums, things like that. We just like being out and about and yeah we're tired, we're exhausted, but I don't think I would have it any other way. Yeah, we're so tired and that sometimes like when I'm driving my three kids around in the morning and dropping them off at school I'm just like wow this is a lot but then having three kids and just trying to keep them happy. Maybe it's a good thing I don't focus on myself too much because like you know when I get caught in my own mind, I can just like stress myself out and just worry and they keep me young and I just really love doing all this kid stuff and like I think I'll be sad when they're all grown up and out of the house and I don't have this day-to-day hustle and bustle. I think, I think I really like all the noise. EMILY: Yeah, and just the out-of-the-house thing I'm just gonna prod on that a bit. So your, your future when you look you know 20 years down the line, where do you see Brooklyn? BAILEY: I see her still being at home with me and my husband. I see us trying to travel and maybe with her at our side the whole time, I don't know, and then I just, I don't think she'll live independently. I think she'll be with us and maybe that will be great that we could still do maybe if we're still young at heart we'll still want to do museums and aquariums and things like that I know that's something we still really enjoy now I don't know how that changes. I know we would love to travel one day and I don't know what that would look like with Brooklyn. We like to go on long walks and you know we can't always do that with Brooklyn. It’s something that, I don't know, and then of course I think you know who's gonna take care of her one day. Try to, I don't mean to but I jokingly I joke with the kids oh well she's gonna be living with you one day, and and it you know I feel I know it's a burden that I don't want to put on them but it's a reality and I do feel guilt about that but I know that I would keep her with me as long as possible. But then I also know that if I didn't have like I always knew that once the kids grew up and moved out I would just get dogs and just like I need something to take care of right but now I just I have Brooklyn which is better than a bunch of dogs and she's always gonna need me and she's always gonna be with me and and I won't have an empty nest. I won't have empty nest syndrome. I won't experience that so I look at that like a blessing in a way too though like, I won't be an empty nester. And she will always kind of be a child at heart, right? And so now I can kind of look forward to that. I'll always have someone to kind of do stuff with, I guess, and like, I don't know, it's hard to know, but I definitely have a more positive outlook about it now than I did a few years ago. EMILY: Yeah, that's really nice to hear. And hopefully you can at least lean on Sebastian and Scarlett to hang out with Brooklyn while you take a nice husband-wife trip. I think you and Brooklyn are very lucky that she has two siblings to lean on. BAILEY: You know, I do have a friend who has a special needs daughter and she has four children. She has three boys and then her daughter's the special needs and she would really love to have one more child, preferably a daughter, because she feels like she needs a daughter that will help raise her special needs daughter. Cause she's like, well, I know the boys are there and they could be helpful, but she said, I think it's different if she had a sister to help raise her. And she's like, you know, you're so lucky that you have Scarlett because she's like, that's what I wish I had in this situation right now. And I thought about it and like, that's true. Scarlett being a twin sister probably feels a little compelled to want to take care of her one day. And so then in that case, I don't encourage everyone to go out and have more children to take care of their children, but I think about that and I think, wow, you know, when I used to be so scared of the thought of having twins, now I look at it and like, oh, I'm so thankful I had the twins and I'm so thankful they're both girls. And so I think it'll work out. EMILY: Yeah, our family moved from California back to the East Coast so I could live in the same town as my twin sister because she has boys that are, one of them's the same age as my Joe. So I kind of, my thinking was to put a little bit less pressure on my other son, was to have cousins around. So I'm taking advantage of the twin experience as well. And so I'm not going to be having any more children, but I am hoping that I can take advantage of the cousins. BAILEY: Good thinking, yeah. EMILY: I've really enjoyed talking to you today. Is there anything else that you want to say to this podcast audience before we go? BAILEY: You know, it definitely was hard in the beginning with all the health issues, the GI problems, the seizures, the first few years was so tough. And sometimes when I think about those first few years, I just cry and I just, I don't know how I survived those first few years, all the ER visits and the consultations, evaluations, therapy, procedures and CAT scans, MRIs, all of it. And it was so hard and I would cry every day in the car and I just didn't know how I was going to get through it. But then it got easier and Brooklyn's health issues started to go away and she started to sleep better and the seizures went away and the GI problems just went away. She outgrew a lot of these issues and things got easier. And so when I see a lot of the children, the younger children and the parents going through, they're still in the thick of it of these health issues that seem to be in the younger children, but Brooklyn is on the other side of these things and it's definitely a relief. And so when I see the parents going through this, I'm happy to tell them like, it seemed like Brooklyn grew out of these issues and it got easier. So even though we have other issues, it's definitely not as difficult, nearly as difficult as those first few years were. And the fear and the anxiety and just it was so hard and it got easier. So I just, I'm glad I could be there for those other parents and tell them, yeah, she outgrew those issues and now she eats well and now she sleeps better and she's not in pain and we're not at the doctors all the time and it gets better. EMILY: That's really good to hear. I appreciate that as well with one of the younger ones. Thank you so much for agreeing to share your story today. BAILEY: Oh, thank you. I'm happy to, sometimes I wish I had someone I could ask all these questions to, but I am just really thankful I could be there for the parents of the younger kids. And I know that I didn't get a lot of answers to anything really through the conference and maybe some through the Facebook, but I am happy to be there for the other parents that are coming to the Facebook group, maybe a little bit devastated and maybe with a lot of questions and just happy that I could help them because I really wish I had that when Brooklyn was younger. I had no answers and it was a really scary, confusing time. And so I'm glad I could be of help to anyone. EMILY: Yeah, and thank you for that because I'm one of the people that's benefiting from everything that you went through before me. BAILEY: That's wonderful. I'm just glad. And I'm thankful for that. I'm thankful for parents like Sherri and just being able to see Allie. And Allie's just such a rock star in everything she does. And I just love watching her and her achievements. And it also gives me a lot of hope for the future. PODCAST EXIT EMILY: Thanks for listening. I hope you found today's topic helpful in your rare disease journey. If there are any other topics you want me to discuss or if you want to be a guest on the show, please reach out to me via the email included in the show description. Talk soon.
Sebrina Harrell: A glimpse into the life of a SKDEAS teenager, including managing seizures and impacts on the parents
Episode 5
PODCAST INTRODUCTION: EMILY: This is Emily Beauclair and you're listening to the Smiles Included podcast, navigating through life with our rare disease superheroes. Hi everybody. I have a great podcast today. Sebrina Harrell is joining us. She is a single mom with two teenagers, so you can imagine her life is hectic enough, but then add on the fact that one of her sons has Skraban-Deardorff. I am especially thankful for this episode because Sabrina was lovely enough to answer some questions that I actually received from my audience. So please keep those questions coming. You can always email me or some people reach out via Facebook and especially when we have parents of older kids, they've always been open to answering these questions for us. So without further ado, I went all over the place with this interview and we cover a lot. So here we go. INTERVIEW EMILY: Sebrina, welcome to the show. We're very excited to have you on. I know you have a crazy schedule, so I appreciate you fitting me in. SEBRINA: Well, thank you so much for having me. EMILY: So tell us a little bit about your family. SEBRINA: So I have John and Sam. John is my son that's diagnosed with Skraban-Deardorff Syndrome. And then I have Sam, who is neurotypical. And then we also have two dogs and a cat just to add some excitement to the mix. As far as Sam goes, he plays football, scouts. John was actually in scouts up until we got into boy scouts. He did cub scouts. And then we stay pretty active between school, sports, doctors appointments. Plus, I'm also, I work full time as an HR business partner and I go to school currently, working on my masters. EMILY: So you didn't have enough going on. What are you getting a masters in? SEBRINA: I actually decided that I wanted to, everyone just automatically assumed I would go back for HR. But I actually decided, I guess, about a year and a half ago that I wanted to do something in social work just because I've had a lot of dealings, not just with John's journey, but with people that I know at the VA and some of the red tape. And I figured the only way I could make a difference in life is to join them. So that's kind of, so I decided to go back for my social work, a masters in social work. And my long term goal is to open up my own clinic for veterans and their families. EMILY: Interesting. Do you have a lot of experience with veterans right now? SEBRINA: As far as professional, I do not have a lot of experience, but I have a lot of friends that have suffered from PTSD and other mental illnesses. And I've kind of seen what it does to their relationships and their families. And the same goes for any stressor, including, you know, being a parent to a special needs child. There's a different stress that goes along with that. And there's so much red tape and not enough resources. So that's kind of why I decided to do that. EMILY: Well, very noble of you. I love to hear that. How old are John and Sam? SEBRINA: So John is, he just turned 17 in May and then Sam is 14. EMILY: So a bunch of teenagers in the house. And how old was John when he was diagnosed with Skraban-Deardorff? SEBRINA: So, he was diagnosed four years ago. So he, let's see, it was November. So he would have been 13 at the time. EMILY: Is John impacted by more than just a Skraban-Deardorff diagnosis? SEBRINA: So at age two and a half, we went two and a half years without knowing what was wrong. But when John was two and a half, he was actually diagnosed with mito disorder of the complex one and three part of the mitochondrial. John falls into kind of the not as severe category for that, which we're thankful for because with mito, there really isn't much you can do except treat the symptoms until people's body kind of shuts down. And that's kind of how we spent up until he was 13, just kind of preparing for because they did not think that he would have made it as long as he did. So the question, once we turned 13 and we got the Skraban-Deardorff Syndrome diagnosis is how does that play a part into the severity? He had a muscle biopsy, so his mito diagnosis is not really as questionable. It's just which one is the primary diagnosis and no one can seem to answer that at this point because he tends to be on the severe side of Skraban-Deardorff, but on the lighter side of mito. EMILY: So that's very confusing. SEBRINA: Yes. EMILY: So I'm sorry for that. So can you explain a little bit about what John's daily life is like so we can kind of understand how he is impacted? SEBRINA: So one of the most notable things with our life is the seizures. So John has had seizures since he was three months old. At times they can be pretty severe. We do not have them under control, so they're usually daily, sometimes two or three a day. But on the bright side is, over the years with some of the medications and surgeries that he's had, they've gotten lighter and they're a lot shorter. Additionally, John does not eat much by mouth, so on a daily basis we're doing tube feeds, things along those lines. He eats for pleasure, things like yogurt, mashed potatoes, stuff like that. As far as developmentally for John, cognitively we're about 18 to 24 months old. He plays with his tablet. It's probably his favorite thing. He loves music and he does go to public school and gets therapies. We do private therapies at home as well. So our days stay pretty busy between therapies, doctor's appointments, schooling, and just dancing around the house listening to music. EMILY: How do you balance all of this? SEBRINA: Very carefully. There's times, I've been very fortunate in my career to have employment that has allowed me to put John and my family first because I'm also a single parent as well and have been for many years. I've made a point that's just allowing me to put things first. I'm very much a schedule person. I get up at 3:30 every morning because that’s when John's overnight feed goes off, I get my head in the right spot for the day and just make my plan, plan my work, and get it done. There's really not a secret other than, because I've shown up to appointments a week early because I wrote it on my calendar wrong. And I'm like I’m so sorry. Luckily the doctors are cool and they're like, let's go ahead and see you since you drive so far. Making sure that you have a support system, which is something that took me a very long time to be like, okay, I do need help. I’m one of those “do it on my own” type of people. So when people would ask, hey, what can I do? Can I bring you dinner? Can I do something for you? I'd be like, no, I've got it. It's cool. And then finally, I was just like, you know, I don't have this. So making sure you have that support system is always crucial. EMILY: I think that that's really important. And I'm hoping that you're finally saying yes when somebody offers to make you dinner. SEBRINA: Not as often as I probably should, but you know, I'm getting there. I'm a work in progress. EMILY: Yeah, because just the simple things can make a big difference when you have so much going on. SEBRINA: It really does. EMILY: And you mentioned seizures, which are what I find one of the toughest parts of this diagnosis and having multiple a day. Do you have any advice for some of the parents that have this problem? Like, how do you deal with that? SEBRINA: So at first, you know, obviously it's just, it was terrifying. EMILY: Yeah. SEBRINA: But one, always keep a seizure journal just so you can discuss it with the neurologist when you go. That's probably my biggest advice because as children grow, there needs for the medications that their own changes. So if you're not increasing them at the right intervals, you'll definitely see an uptick in those. And the seizure activity. Additionally, I mean really it's just breathe through it because whereas it is very scary and sometimes especially with the larger seizures, children get injured, they quit breathing, things along those lines. And in those situations, make sure that you have a plan and make sure that everyone around you has a plan in the event that you're not with your child. But make sure medicines are on time. Keep that seizure journal and don't be afraid to call the doctors and be like, hey, this isn't working or I'm seeing an uptick in those small ones. And of course, the most terrifying with the smaller seizures like the absence seizures is sometimes we don't even notice from us parents because when John had his last EG, I was thinking, oh, everything's going better. And they're like, yeah, no, it's really not. You're just not noticing them. And of course, you know, I'm like, I felt kind of bad because I wasn't. But there's like sometimes seizures can be so quick that you don't notice them. Or for example, we had an issue before VNS because John, in addition to medication, actually has a VNS, which is a vagus nerve stimulator to help, kind of always describe it as like a pacemaker, but for the brain, it kind of keeps everything aligned. And then when he experiences a seizure, we swipe the magnet and it goes off for a minute and a half and breaks up the seizure. EMILY: The VNS, now you've answered a question that I've had for quite some time and I've never looked up because we always get that question when we're filling out the seizure paperwork. Our neurologist always clicks no. But now thank you for explaining what that is. SEBRINA: Yeah, I mean, the VNS has made a lot of progress because we were having seizures. I thought it was just John falling because we don't work very well. But he did it in the doctor's office one day and the doctors like Sebrina, that's not him just falling. That's an actual, they called it a myoclonic seizure, which then let us know that, hey, we're having a lot more than what I thought. And the VNS has done wonders for that. We don't see any areas. If any of the parents are ever in a situation where you don't see meds working or you've tried a ton of meds and for insurance approval, you do have to go through a lot of meds before you can get that. I highly recommend it, even though we still are having them. They're not as severe and on a regular basis and they have lessened some of them. EMILY: I'm honestly fascinated by your son because he's so much older than mine. So I have some questions I didn't prepare you for that are now coming to my head. So feel free to not answer if I make you uncomfortable. Because I would say that my son is around like the 18 to 24 month age too in development. So, and he's four. So I'm just wondering, has your son been there for a long time and like plateaued? That's where he's always been. Or does he kind of improve a little bit each year? How does that work? SEBRINA: So for us, and I think a lot of it has to do with the seizure activity. We've actually made progress. For example, at one point, John knew a lot of signs. John gets sick. We had a huge increase in seizure activity and we regressed and we never relearned what we lost. I think a part of it also has to do with the fact that with Skraban-Deardroff and for us, especially there's not good communication skills. I believe that John probably is above that. Cognitively, however, when you can't communicate, It makes you score lower on that. But as far as our progress, that's pretty much where we've been for a while on standardized testing. I always look for the progress that they don't look for. Just like one night out of the blue, we had been saying our nighttime prayers forever and John actually put his hands together for the first time. And that was actually not too long ago. He was about 14, 15 the first time he did that. But we do tend to not make progress as fast as other people. And then when we get sick or see an up to con seizures, we generally lose it. Eventually we get some of it back, but we have not gotten all of it back yet. EMILY: And so right now he's not really able to communicate it all other than gestures and sounds. SEBRINA: So John has about five words. Home, mama, Grinch, play. I'm sorry, four words. That everyone can understand. And then the rest is gestures. We have tried communication devices, due to fine motor skill issues, they've not been successful. We've tried PECS. And these were things that we started working with him very early on. But he's just never been able to grasp it or the other issues such as the fine motor skills have been a barrier. EMILY: Is he doing ABA therapy? I hear this constantly. SEBRINA: I do too. We have looked into it. Where we're at, there's not a lot of ABA therapists locally. We have tried some of the concepts. The school has reached some of the concepts. But even with a cause and effect, John doesn't understand that at all. So therefore for us, it's not something the doctors have pushed. Even when I asked, they just don't feel like it's appropriate for him. I like the concept and a lot of people have had a lot of success with it. But I think that for John, the cognitive issues that he has is kind of it, it's why we don't see a lot of progression when we do use those concepts. EMILY: It's definitely not for everybody and seems to be a hot topic. But you mentioned he goes to school. Does he go to a regular school? SEBRINA: So we do go to public school. We are in an inclusive classroom. Up until this year, it's usually four for his class. He is not allowed to go with the rest of the kids. And the school, it's just their little four in all-inclusive class. This year, there's actually seven children now. He loves school. He loves his teachers and his nurse. But when he was younger, we were able to go to a music class, art class, and things like that with other students as he's grown up, gotten older. And it's not because of his behavior or anything. It's just they don't feel it's safe for him because the other kids in the high school are so much bigger than him. EMILY: Yeah. One thing I noticed at the family conference was that he loves Mr. Rogers. SEBRINA: He does. EMILY: Which was very adorable. What else does he love? SEBRINA: So his, by far, the favorite thing he loves is the Grinch. I always say that he loves people that like the Grinch, the reporter on Mr. Rogers, who's his favorite character. That most people would be like, they're kind of the villains, but I guess he just sees them the way God sees them as people, as broken people. So that always makes me smile. But the Grinch, he loves music, he loves to dance. I think if he could actually speak, he'd be singing all the time because he's the one back there humming every time. You know, we're driving to whatever is on the radio. And Curious George is his other one. You probably saw Curious George with us. I'd gotten a scrapbook for John a long time ago. So we have made kind of a scrapbook that's the many adventures of John and Curious George. And it's just where George has traveled with us to different doctors because we've seen doctors in Texas and Atlanta and obviously Cleveland and CHOP. And we've actually been to the other side of Philadelphia to Pittsburgh when we first started out. So George has just been a constant companion. So we have scrapbooks of George being crazy right along with John. EMILY: I love that. He seems to have the same sort of social thing that a lot of the kids have where he's just, you know, smiling and happy. SEBRINA: He is. He's always happy. He loves to give hugs. Of course, COVID kind of put a damper on that. And then of course, it's always a concern even without COVID when you're out in public. He has this fascination with older people. So he will chase elderly people down in Walmart trying to hug them. And for someone who doesn't move fast on a normal day, if he wants to give someone a hug and doesn't want me to stop him, he can move pretty quick. Where we go to church is a lot of older people and he's in hug heaven. He prefers them to children his own age. EMILY: So. And kind of on that topic, does John have any friends that are his own age? I know this is a tough question, but on the last podcast, it was just something that I assumed. I assumed my son would have friends when he grows up. And that might not necessarily be true. He might not be interested in friends. SEBRINA: So, and that's really the situation that we're in. And as far as friends go for people his own age, no. And it's a mixture of one: he's not really interested in them himself. And then two: whereas when children are younger, people are more accepting. As children get older, because John used to do Mother's Day out with me where I had friends and we would hang out with their kids. And they would all play. But we eventually reached an age where baseball took over. Well, John can't play baseball and life just takes over. And so that really changed his social interaction. At school, he more hangs with the adults and talks, wants to interact with them versus other children. He doesn't have any issues as far as getting along with people. And for example, they sent a home a note the other day that said, Hey, John was a big help. He, someone lost their shoe, which I was kind of confused about how they lost their shoe at school, but whatever. He helped search the room for it. So it's not that he doesn't like other children. He just doesn't know how to interact with them, I think. And they don't know how to interact with him either. So. Because we did scouts like I said in the beginning, we did scouts for a long time. John actually completed webelos and got his arrow of light. I just decided we would not continue to cub scouts because we couldn't modify it the way it needed to be for him. And the other kids, like they would help John and they would participate in them. But they had been around him for a long time, whereas making new friends just is more of a struggle. EMILY: Yeah. And actually, somebody gave me that bit of advice. It was like, now that our son is young, get him his friends now and find him close community now. And it's like, well, it's easier said than done because people move and, you know, people get to start baseball and, you know, activities that, that our kids might not be able to join in. So it's, it's very tough. So I was interested to hear your point of view on that. SEBRINA: And it, you know, and it is tough and it's tough. I'm going to say this, you know, for the parents, it's tough too. Everyone gets so busy with their own life when the kids get older and they're doing baseball, scouts, basketball, football, the whole nine yards. That you'll find yourself in isolation as well because your child's not developing along with them. I don't believe that any of my friends ever intentionally left me out. Um, but it got to the point that they knew John couldn't do it. So in their own well-meaning way, they excluded us. So I didn't feel bad because watching their kid. So that's something, you know, as parents, we have to be aware of too. I am just now getting in a place where I'm actually socializing and making friends and having, you know, a life outside of John and Sam. EMILY: Well, that's nice. I like to hear that. SEBRINA: The struggle's real. But, you know, But I finally got in that mindset that I needed, you know, and it may sound selfish, but it's really not. Having something that's outside of what we deal with every day with doctors and insurance companies and meds and seizures and all that. And then, you know, a neurotypical child as well is so crucial just to your mental health because there was a time I felt so isolated and that I just didn't belong. And then I was like, that's just in my head. Just because I have a child with special needs doesn't mean I don't belong with other people. EMILY: Agreed. I hope I take that advice when I am struggling as well. You mentioned Sam a few times and, you know, it's him being, you know, neurotypical and having, you know, an older brother with all of these issues. How does Sam deal with that? SEBRINA: So I've been very intentional as far as making sure that Sam has his own activities that don't include John, but I'm also very transparent with Sam. Sam has known, you know, from the beginning, you know, that John has, you know, some physical issues. And overall, he deals really well with it. They're kind of at the age now. Now that Sam's 14, that, he just wants John to leave him alone and not bug him. But then it's almost as without any lectures or anything, something makes Sam realize that, hey, I'm the only support my brother has. So then he'll go and, you know, do something silly with John or make John laugh or, you know, go toss a ball outside with John. I think it's helped him be more sensitive to others around him. But it's never his responsibility to do anything with John as far as medical or watching John or even entertaining John. I never ask him to do because I want him to be a child. And so often you hear stories of where you have a child with special needs and a child that doesn't have special needs. They grow up way too quick. And it's important for me for him to experience the same childhood that I would want my children to experience. EMILY: And a question that I actually got from a parent that they emailed me that you might be a good person to answer is about sort of the siblings. And it's tough for us to discipline our Skraban-Deardorff child, because at least in my case, like the word no is not necessarily understood. Or if it is, it's ignored. And whereas with my, you know, neurotypical child, they have to know the word no. And they get disciplined a little bit more. And, you know, did that cause any issues in your household? SEBRINA: At times, Sam has felt like it's unfair, especially when it comes to like chores and responsibilities. EMILY: Yeah. SEBRINA: Just like any other siblings, they will get into it. And John will be bugging him. You can't really reason and say, Hey, quit bugging your brother. He's trying to do something. So that's where we've had more of our issue of, you know, instead I have to coach Sam instead of yelling at your brother, let me know, we can, I'll get him out of the room. But of course he wants, you know, him punished just like if he would be. It's just a matter of just kind of explaining the cognitive abilities. And like I just tell Sam, you know, you're held to a higher standard because you understand. John's held to what he understands and you're held to what you understand. As they get older, it gets easier. When they were little, there was really no issues like that. It's just, I've seen that surface a lot as we get into the teenage years. EMILY: Yeah. And kind of speaking of the teenage years, some of us with the younger children, they have a lot of behaviors like throwing things and kicking things. Does that change as they get older or do those behaviors still stick with them? SEBRINA: So the one thing when John was younger, we didn't have a lot of issues with throwing or kicking. But as he's gotten older, he's definitely more emotional than what he was as a child for us. Between just randomly crying or yelling and having those meltdowns and which I would have much preferred him to have meltdowns when he was younger because I could pick him up and now I pick him up. I don't know how much longer I can do that. So on some levels, I think that it, that part does get easier. But on some levels, there's other concerns because, for example, if your child lays down in the middle of Target at four, you can pick them up easily and walk out the door. When John lays down in the middle of Target because that's our favorite thing to do when we're upset, we'll just lay there. And you can't really pick him up. So then it's more frustrating as a parent because I'm trying to pull him up without hurting him. Everyone's staring. And, you know, of course, you all have those moments that we're like, if you don't get up, I'm going to pop your bottom. Or even though I don't, it's a threat, maybe it'll resonate. And I had someone tell me they're like, you better not do that to that baby. And Sam actually popped up and he's like, you better watch out. She'll pop your seat. So I mean, it's just, it's more embarrassing I think, as you know, at the current age. But does it get a lot better? Absolutely not. At this point. EMILY: Yeah, great. SEBRINA: So we should prepare yourself to develop thick skin and just ignore everyone else that's in stores. And also speaking of this type of tantrums is for us, the mornings are better. I kind of plan my life and my outings with John around when we're at our peak and we're out our peak in the mornings. So determine when your peak is and when they have the most energy and the most well rested. And that's when to go do all that because you have less of a chance of having a tantrum and make sure trips are short and sweet. EMILY: So good advice. I do want to talk quickly about the family conference because I know you were at the first one and you were at this most recent one. And just wondering how was the second one different? SEBRINA: The second one was different because one: there's a lot, was a lot more people. It was a little, even though it was, you know, we had our issues with timing and everything, there was a lot more information. The first one, there wasn't much information. So I was excited to see the different interests from some of the doctors. Other than Dr. Deardorff and Skraban that were involved because that means that we're growing and people are starting to take notice. EMILY: Yeah, we're definitely growing, which I guess is a good thing. SEBRINA: It is. And, you know, we're already kind of in the middle of it. But I think the growth and the more people become aware of it and the more funding that we'll be able to get for the foundation, the more we'll be able to figure out kind of where we're going. Because I think that's kind of the hardest part is we don't know what the future holds. And I always tell everyone, you know, John's journey is a little bit different because of the other diagnosis. But I'm very hopeful because you have so many other children that you see that are talking or using communication devices. And I think the more that they discover about Skraban-Deardorff, the better off that we are, that our children will get there and we'll be able to live independently and do the things that everyone else does. EMILY: I'm hoping that raising funding and everything that we learn is going to help our kids in their lifetimes. But definitely the people that are coming behind us, it's, I pray that we're making their worlds better. SEBRINA: Oh, I know that we definitely are. I mean, just even your podcast or creation of the foundation and the blog and everyone coming together and listening to everyone's stories, it provides hope, it provides, hey, you're not alone in this. And that makes such a difference to people. EMILY: Yeah, and that's why I love people like you with older children that are willing to give us advice. It's been really helpful. SEBRINA: And unfortunately, my advice is the behaviors are still going to be an issue later on. So I know that's not very encouraging. And I apologize for that. EMILY: No, but everything you said, and the thick skin's important. And I feel like I have a thick skin and everything else except for my child. And I think I need to work on that. SEBRINA: And that's to be expected. I mean, there are so many times that we have an issue either, he has a meltdown or a seizure. I was really excited when we got our new rescue seizure med that we put up his nose because the Diastat in public was not pleasant and people say stuff and people are just people, can be mean. And I've gotten in the car plenty of times and just cried. And then I'm just like, do I know them? Do I go home with them? And the answer is no. So I just shake it off and focus on the people that support us and love us. EMILY: Yeah, you mentioned getting into your car and crying. For some reason, that's like my place. SEBRINA: Yes, mine too. EMILY: I don't know if there's something about driving in the car. That's where the crying happens the most. SEBRINA: Most definitely. EMILY: But we will get through this. And you gave so much advice and I really appreciate it. Is there any other advice that you have that I didn't have already earlier in the podcast? SEBRINA: So the one thing that I would like to really just encourage everyone because I've hollied out that I'm the only single mother out there. I'm the one I currently know about. And this goes for both single parents and married parents. If you're single, take time for yourself, be it five minutes. Because a lot of times in my world, it's been five minutes that I've had for myself. But for the married parents out there, don't forget to focus on your marriage as well. Because it's so important. It's difficult. It's hard when you have children with special needs. It's hard when you have children, period. But having children with special needs on top of all your other obligations, sometimes relationships come last. And they don't need to be. They need to be a focus of your life as well. EMILY: Yeah. There's definitely more single parents out there that have kids with Skraban-Deardorff. And similar advice, sort of has been given. Because right now I am married, but it's tough. Like we fight a lot over our child. And are we paying enough attention or too much attention to him? And it's really tough. So thank you for that advice. SEBRINA: It's a really tough balance. But, and that's just not by anything, just saying anything that John affected anything. But at the end of the day, that was the feedback. And I've been divorced for a long time. But that was kind of the feedback I got is that I focused so much on John and advocating for him. That, would I do it all over? Absolutely. I would advocate just as hard. So hopefully if I ever decide to go down that path again, take that and apply the fact that I need to invest just as much in a spouse or a significant other or any of my relationships as I do with John. EMILY: Yeah. Yup. Really good advice. SEBRINA:I hope something that I've said is helpful to someone. EMILY: I know it's gonna be helpful to a lot of people and a lot of people were hoping to hear from you just based on the conference and meeting your son in person. So thank you so much for joining us. SEBRINA: Well, thank you and you have a great day. Thank you for having me on here today, Emily. PODCAST EXIT Thanks for listening. I hope you found today's discussion helpful in your rare journey. If there are any other topics you want me to discuss, questions you have for some guests, or if you wanna be a guest in the show yourself, please reach out to me via the email included in the show description. Please also visit skdeas.org to learn more about Skraban-Deardorff Syndrome and consider making a donation to fund research to help our kids. Talk soon.
Episode 6
Sherri Blaik: Demystifying the ABA experience and other therapies that have benefitted her SKDEAS daughter
PODCAST INTRODUCTION: This is Emily Beauclair and you're listening to the Smiles Included podcast navigating through life with our rare disease superheroes. Welcome everybody. So, today my guest is Sherri Blaik who is the mom to two teenagers, one of which has Skraban-Deardorff. Sherri presented about potty training at the family conference and she's one of the few people I know that has had success potty training a kid with Skraban-Deardorff. So, I really wanted to bring her on to talk about that, but I actually have that in part two. So, this is episode 6A and then episode 6B is going to be specifically devoted to the potty-training conversation. Basically, because some people might be very interested in that and coming back to that conversation and not having to find it through this 45-minute talk with Sherri. So, for this conversation, Sherri walks us through a lot of the therapies that have been successful for her daughter, including ABA because that has come up a lot on my previous podcast and a lot of people have questions on it, including myself. So, I asked Sherri to walk us through what ABA means for her and her family. But I do want to caveat in this conversation saying that we go through a lot of therapies that Sherri does, and I even mentioned that I feel a little bit of mom guilt for not doing all of them. But I do know that we are all doing the best or have done the best that we can for our kids. So, that's my PSA so nobody gets down on themselves. I hope you enjoy our conversation today. INTERVIEW EMILY: Hi Sherri and welcome to the podcast today. So tell us a little bit about yourself and your family. SHERRI: My name is Sherri Blaik. My husband Will and I have two kids. We've been married almost 21 years and a couple of months. We have a 16 year old son. His name is Maddox. Maddox is a junior in high-school and he's your typical high-school kid. He's very active. He loves outdoor things. Mountain biking, fishing, hiking, snow skiing. He swims on his high-school team and plays tennis. Wants to go into medicine someday. So, we started looking at colleges which is strange and nerve wracking. And then we have Allie who is 14 and Allie is our daughter with Skraban-Deardorff . Allie also has several other diagnosis in addition to that. And she is just our little ray of sunshine. She just is full of energy and life and loves life and the world is full of rainbows and sunshine for her. And then we have our silly dog Jenny who I'm hoping doesn't bark during the podcast. And that's our family. EMILY: So, a very full and active house, which I like to hear. And for those of us that went to the family conference, we got to meet Allie. She was just the most confident and happy child. So, everything you're saying really checks out. And how old was Allie when she was diagnosed with Skraban-Deardorff? SHERRI: She was nine when she was diagnosed with Skraban-Deardorff. But our journey was probably a little bit different because she had another diagnosis that we really went with. I can tell you a little bit about that if you'd like me to. EMILY: Yeah, that'd be great. SHERRI: So, you know, when she was born, I had some difficulty, difficult pregnancy. When she was born, we thought everything was great. We were home in 24 hours. A little interesting story. She actually has a twin cousin. My sister and I had our babies 13 minutes apart, same hospital, same doctor. All my dad's birthday. So there's three birthdays in our family. They were actually due eight weeks apart, but Allie was premature. My niece was a little late. So anyway, the first six months, we just kind of went through life thinking everything was fine. She was always behind, but they always said it's because she was a preemie. And then around nine months, I really started seeing her miss milestones. So, we talked to our pediatrician, Jenny said, I really think it's just because she was a preemie. But we started physical therapy because she just it was real obvious physically. She just could not do things and she wanted to. I could see her trying. And then in a year, the doctor said something's wrong and we just don't know what it is. And so at that point, we really started this huge series of testing from so many different syndromes they tested her for. We did the microarray, genetic screening and everything came back fine. You know, which one way aspect was nice because I couldn't miss. Thank goodness she didn't have this, but then there was still this unknown. So, at 20 months they did an MRI and they determined she has hypoplasia of the corpus callosum, which the corpus callosum is the band of fibers that connects both sides of your brain. So, every single thought, every single action, everything you do passes through the corpus callosum. So, she has part of her missing. So, the doctors like this is what she has and of course like everyone that was just devastating because no one wants to hear your child is missing part of their brain. And so, we got referred to some specialists who honestly weren't very optimistic about her future. But you know at that point that's what we had. We did all the research. We just embraced that diagnosis. And it's a pretty big, there's a pretty big support group with that diagnosis and they have conferences. So, we went to the conferences and you know just went down that route. All along every time we'd meet with the new doctor they would say we feel like there's more, but we don't know what it is. And we ask multiple times along the way about the whole exome. But at the time the answer we usually got was insurance usually doesn't cover it, it's cost prohibitive, it doesn't change your day to day. So, we you know, and then at eight we started with a neurologist and she said why have we not done the whole exome? So, I gave her the answer and she said I have a grant for it. I want to do it. You know things are different than they were eight years ago. So, we did it. And about four months later she called me back and said she has this WDR26 mutation which didn't mean anything to me. And I said what do we do? And she said I don't know. We're going to put it in a database. You may hear from someone in six months, you may hear from them in 10 years, you may never hear. But this is what she has. So, again we went into a database and about probably three or four months later I got a call from the neurologist, and she said there's a group at CHOP who is doing research on this mutation. Would you like to be part of the research group? Absolutely! So, we had some meetings with doctors Skraban and Deardorff and Allie became, I think she was the eighth kid identified. So she became part of their original research group. And then it was probably a year later that we found out it was, you know now, identified as a syndrome. She was diagnosed at nine with Skraban -Deardorff. EMILY: I didn't know she was one of the first, wow. SHERRI: She was. She was part of that original research group. So the original study, I think, there were 14 or 16, I can't remember how many kids, but she was part of that original group. EMILY: You were at the first family conference as well where there weren't a lot of attendees. SHERRI:We were, we were. And you know for us when we got the diagnosis it was actually a relief because at this point she was nine and you had already gone through so many things and at this point we knew, you know, she can learn, and we knew what she could do, and for us it was just a relief because we had all these years trying to find out the other reason and now we had it. And we, you know, she was older so, I'm like she's going to be able to do these things because she'd done them. But yes, we were at the first conference and we met a few of the families. It was a shorter conference, so we didn't really have as many opportunities to really get to know everyone, like we did this last one. So, this last one was just amazing and wonderful. EMILY: Honestly, the answer that you first got about you know there's no point in doing the Exome testings. You might not, you wouldn't change how you're treating Allie is what bothers me the most because you would never have this community that you have now. SHERRI: No, and I think there's got to be so many people that are just like us especially with older children who will never have an answer. And there's just such a comfort and knowing there's a reason especially because I have another child, do you know, I'm to see a carrier is, is there a carrier you know all those things that you always wonder for me it was such a piece to know we have an answer. The unknowing is hard, it was hard for many years. EMILY: Yeah, and then we get to benefit from, from you and everything that you learned. That's one of the big reasons you're, you know, one of the most requested guests after that family conference. Allie was probably the most advanced with her communication skills than a lot of us have seen before with this syndrome. So, I think that got some of us parents excited and I keep mentioning her confidence. Can you tell us about which therapies you found to be the most successful with her? SHERRI: Sure, and they, you know, they kind of changed through her life. There's some that we did initially that we don't do as much now. I would say that the, the one thing that has been a constant since she was two and a half that we will continue to do is ABA therapy. I've said this more than once. I really think it's been life changing for her. It's the way they teach you to learn and it's very hard to describe and if you google it sometimes the videos online are not a very clear indication so, I think there's, you know, that gives people a different perception. For Allie, before we started ABA we started it at two and a half. We did OT, PT, speech and we started all those at about a year. We started all of her therapies before we had the corpus callosum disorder just because she was, you know, we knew something was going on and all that was so helpful but I would get home and I'd have a list of 15 OT exercises and 25 PT exercises and I had, I couldn't get through them all and the one thing that ABA did is they helped us work through all those. in a natural way and they taught me a way to help teach her to do those things. So, the way ABA worked for her, is it's a lot of repetition, it's a lot of positive reinforcement, it's blocking a behavior that you don't want and replacing it with a positive behavior. So, try to think of an example. You know, if she's screaming because she wants ice cream instead of screaming, you could say in a block then say, Allie, you could say I want ice cream and it doesn't have to be verbal, it could be a sign. But you don't say, don't say that, don't do that, you know, instead you just say you could say or something like that. So it kind of replaces that negative, I guess, behavior with a positive and gives them a way to replace. They also included as part of their programs, I mean, all of her goals. So because they're all just part of what she needed. And so it really helped us kind of streamline and, you know, they helped me learn how to teach her sign language. I mean, a lot of it's just, she learns in a different way. So that was very, very helpful for us. EMILY: And about how many hours a week would you do ABA? SHERRI: Well, what we heard and what I would do is different. So when we started, and there's a lot of reasons which I won't go into, but we only were at 10 hours a week. If at it, I would do as much as you can, to be honest, if we could have had 30 or 40 as a younger, I think her life would be very different because I know what we did and where it got her. So I would say, you know, listen to your providers, see what they recommend, but it was this huge impact on her. EMILY: Yeah. So and thank you for walking us through that a bit more because I'm trying to understand ABA a bit because it does have a negative perception among my providers. And then I do keep hearing how it does help our kids specifically. And but I struggle with not saying the word no. SHERRI:We all do, trust me. I do too. I think that there is some negative out there. And I think it's just like any industry. I mean, there's some people who are probably that shouldn't be in that industry, you know. So maybe somebody had a bad experience with a therapist. You know, it doesn't mean the whole program is wrong. They just had a bad experience. You know, we've been very fortunate from the start to have had amazing ABA therapists who honestly were our backbone and they helped us through so many things. There's good and bad providers just like everything. If you're having a bad experience, it may be the one providing it. That makes any sense. So that has been really beneficial for her. Occupational therapy when she was younger was huge. She had a lot of food sensory issues, a lot of feeding issues. And we did that intense. But then when she got over those, we dropped that for a while. Again, she could use all the therapies every day, but sometimes it was a balance of where do we spend our time. You know, for running from therapy to therapy, there's no time to implement them. So some of those things we would kind of take a break from and then go back to later. Hippotherapy is something else that we started when she was two and a half and she was super tiny on this horse. She wasn't even 20 pounds. Now she does therapeutic riding. I think they're both wonderful. And for her, it really helped her physically. Like we saw huge differences in her physical development once she started ridding. And I kind of, I've given this example to several families who kids are interested in it. Just because of the timing, we had gone to her developmental pediatrician and they did like a developmental assessment on her physical ability. And then like the week after we started hippotherapy, I mean, just the timing just happened to work out that way. And then six months later, we went back to the developmental pediatrician. They did another assessment and she'd made 18 months of developmental progress physically over six months. EMILY: Wow. SHERRI: And the only thing we did different was add the horse. We were still doing all the other things. Yeah. And I just remember, doctors said, what have you done? And I said, the only thing we're doing is we're putting her on a horse 15 minutes a week. And that was it. And it made that much difference. So for her, I really think it helped her walk. The other thing we would notice is when we would get her off the horse, she was so much more vocal the next couple of days. Now, at the time, she didn't really have any words, but she would make the raspberries and she would, you know, just block, just talk, talk, talk, talk, talk in her own little language. And then two or three days later, she'd be quiet for three or four days. It stimulated something. So those are the two things that I, of course, all the other things absolutely helped her too. You know, we've done some things along the way that maybe a little, not your traditional, and I talked a little bit about this at the conference, but we've started adding yoga to our therapy program to help her with her anxiety. And that's actually been extremely beneficial, teaching her how to kind of breathe through anxiety. She does have social anxiety, which you would never be able to tell at the conference, but help her kind of learn how to self-manage some of those things. So we've tried some different things like that. EMILY: Did she develop anxiety later on? Because I've heard from a couple of parents that their kid has anxiety, and that's something I don't see at all with my son. So I'm wondering if it comes later. SHERRI: So, it kind of came and went. So when she was probably five or six, she would have anxiety going into big rooms. So like at school, going into the gymnasium was a real anxiety inducer. And we worked through that with our ABA team and worked on desensitizing her to those rooms, which looked like every day she would go in the room for a minute, and then she would get her iPad for a minute. And then the next day, we'd go in for two minutes. And we went through this whole program to desensitize her to those things. And then she got over it, and she did great. And then probably around nine or 10, we started seeing some of it come back, and then COVID happened. And the world as we know it changed. And we didn't do all those things for several months. And then we had some changes and some other therapies and those things. And it really came back strong. So I don't know if it was hitting puberty, if it was the change of all of a sudden we're all home and we're not doing all the things we did before for a while. But it's definitely been tough as a teenager. And I don't think we're there yet. We've tried medications, they did not work, so we're trying these other ways to manage it. EMILY: And you would not know that at all upon meeting her. So it's really interesting to hear that. SHERRI: Well, thank you. That was, she did great. And I'm so proud of her because that would have been something that would have been really hard for her a year ago. So these things we're doing, I do think they're helping. You want your answer right away and it's just going to take time. But we are trying to work through things and teach her how to manage those things. EMILY:Yeah. I mean, if there was one word that I could use to describe Allie, it would be confident. And so that's why I'm shocked to hear this. SHERRI:Well, it's interesting. And it's kind of sometimes it's situational. So yeah, if we, you know, like when we would walk into that room when she got comfortable, then her anxiety went down. But sometimes going into a new place, like with big open walls and like shiny floors, like she loves ballet, but ballet causes a lot of anxiety. And I don't know if it's a visual perception of just how her eyes are processing the space. It's hard to know because we have the brain disorder as well. So her brain doesn't process things quite the same. If that's it, I mean, we haven't been able to figure it out. But then other days, she's great. So, it's not some days are great. Some days aren't. It's not. Yeah, it's not all the time. EMILY: So, and it also might have helped being in a room with all these other kids that have the same syndrome. It just kind of felt different. SHERRI: It did. And she just kept saying, everyone's like me, everyone's like me. And she just loved that because we've never had that before. EMILY: So, can you walk us through a little bit about how Allie communicates now and sort of how you got there? SHERRI: So right now, Allie communicates. She talks. Her language is a little hard to understand, I would say, probably understand 60 to 70 percent of it. She is supported with a communication device. She just has an iPad and we have a program on it. Her main form of communication is verbal. And then if we don't understand anything, we'll say, you know, Allie, I don't understand what you said. Use your talker, which is what we call her communication device, and she'll get on her talker and explain it to us. She also knows sign language, and that's really what she used probably the first five years of her life. She was definitely slower to talk than a lot of the kids at the conference. She really had no sounds at all until she was about four. And then it was, you know, I don't think I heard mama until she was close to five. So she was very slow to talk. She had a lot of oral motor delays. So, we did a lot of oral motor exercises just to get her mouth strong enough to talk. And then we did sign language with her and again, talk about ABA. Once we figured out how she learns and how to teach her sign language. Once they started with her, she learned 150 signs in a month. So, it was like all of a sudden it was all there and she knew how to communicate it. So we did a lot of sign. I mean, when she was a baby, it was all sign. And then she would start to when she started her sounds would come in, we'd make her sign. And then she would have to approximate something. So she wanted candy. She would sign candy and then she's say “K” or something. And then we just we kind of add that additional requirement for her to get what she wanted. And then when her language came in, we kind of dropped some of the sign just because obviously it's easier for her to talk than sign. So her progress, we've done different things along the way. And when she was, a lot of times we go back to sign language. So when she's learning something new to read, if it's a word, she's having a hard time reading. If I do the sign, she, it's like it sticks. It's like that was her first language of sign. So we always kind of go back to sign when we learn new things. EMILY: Sign is not used very much in my house. Joe doesn't seem to love it. SHERRI: Yeah, we tried for a while and really didn't work until they taught me a way to teach her. And once I learned that way, and I had tried all the things and I'd done the videos and it, but there was a certain way that they taught us and it, it seemed to stick with her. And I think what she realized that signs had meanings, that was the hard thing is once she learned it had a meaning, kind of like the Helen Keller moment where it just went off like, oh my goodness, this means something. And then she would walk around and I'd be like, this is drink and we'd show her the sign. And once she realized there's a purpose to it, it really changed her ability to want to learn it. I think that's the hard thing is she didn't know why we were doing it initially. We started the device, the communication device late. And part of that was, I was afraid since her language was coming in, if we added a device that she would quit talking. And her therapist told me that wouldn't happen, took me a while to believe them. And, you know, looking back, I regret we did that. I wish we would have started that earlier because I do think she picked it up so quickly. I think that would have helped her to talk earlier because it never slowed her down. If anything, it took away frustration when there are things she couldn't communicate, she could tell me on her iPad. EMILY: We're all in with AAC in my house with a book and a device together. We're having some luck. It's just so slow going because cognitively, we still struggle a lot. We've had a lot of big wins where he understands certain words, mean things, but he still doesn't really understand that he should be using the book or the device to communicate with us. And honestly, it's probably more my fault for not using it enough with him. But he is a really good pointer. Whereas with sign, it seems like he would often struggle with moving his fingers the way that, you know, he needed to. SHERRI: So, Allie's sign language was not completely American sign language because she had so many five motor delays as well. So we modified a lot of it. So it's a little hard because her sign language is, we call it Allie sign. And a lot of the signs were different. We just really did what she was physically able to do. So like for swing, it was really her putting her hand in the air and just going side to side, which ASL for swing is a different sign. But we just had to modify some things for her to be able to do them. But, you know, I think the key is once they realize something has meaning, that's when it really started to click with her anyway. And that just took us a while to get there. It's hard. But once they, I feel like once they get that and they can communicate in any way, the frustration level really went down. I saw her frustration because she would just, you know, she would get so upset and I didn't know why. And it's so hard as a parent because you don't know why they, you know, are they hurting today, something going on. And I remember one time she was little, I took her to the pumpkin patch and she cried the whole time. And, you know, I got in the car and I'm like, oh, she's getting sick. And we got in the car and her sippy cup was there and she took a drink of water and she was happy. And I'm like, she's cried for an hour because she was thirsty. And she couldn't tell me she was thirsty, you know, and that's just so hard. And so like the first sign we taught her was drink. Like that's a quick answer to when you're unhappy, you know, give her a bottle of water. But it definitely helped with the, which is why I wish we would have started the device a little earlier because I think it would have helped with some of her frustrations when she was younger. EMILY: Does Allie go to a regular school? SHERRI: She does. We have, I call it hybrid home school. So she is actually in a private school and she's at school about half the time. And she is in a classroom with all neurotypical peers. And she has an aide that goes with her who kind of helps modify the work and helps her adjust. She goes to school about 20 hours a week. And then we do ABA another 10 in her clinic. And then she has outside activities. We do speech three times a week. She still has a physical therapy appointment once a week. So it's, it's, and then we have like a reading specialist who comes into our house and works with her. So really kind of private tutors. She really is at school for social because it is a private school. They don't have a special ed department. They don't have the resources. So we're really there for just the social, the social aspect. And you know, it's, we kind of supplement everything else at home. So it's been really good because she really likes She imitates, she's a very good, she loves to observe and imitate. So it was, especially when she was younger, to imitate typical behavior and typical peer communication. The kids have been with her, she's in seventh grade, you know, since first grade, so they all know her and she's part of their group and they treat her, you know, they treat her great. I mean, it's been a great experience. She's hit middle school, it's been more challenging because she academically can't do middle school work and we saw anxiety get higher because of that. So she's actually a helper to some of the younger classes this year. And that's actually been really good for her because academically that's where she is and she can still work on those social skills, she can still work on some academic skills, but she doesn't have the pressure of trying to be in middle school when we're academically not there. EMILY: I'm not going to lie, you're already making me feel a little bit of mom guilt when you talk about all these things that you do at home, because I work full time and I'm already very nervous about all these therapies that Joe will eventually do, and I've heard more and more people doing sort of hybrid schooling and if we have to do these therapies at home, I think working mom is going to be really tough. I don't know how you get all this in. SHERRI: Well, I don't do it all by myself. I will say that and I also work part-time. I work from home, but I work part-time. I have help. We have amazing therapists who go with her to school. They take her to her therapies. I used to do it all when she was younger and it was just really hard to do all the things a mom needs to do and work and all the therapy. I mean, there's just not enough hours in the day. We hired help. Our aides are wonderful. They're part of our family. They take her to school. They go to her therapies. It's been great for them because they learn directly from the therapist on what to do and that's kind of what we do so that we have help. EMILY: That's an interesting model because you did bring one of your therapists with you to the family conference and I loved that idea. SHERRI: Thank you. Yes, it was great to have her there. I wish I could have had the other one there as well. They're both wonderful and have been so great with Allie. EMILY: You kind of touched on her friends a little and I remember seeing Allie when she was going to the Special Olympics. There was a video online and I just burst into tears. SHERRI: Oh, me too. Every time I watch it, I can't watch it without crying. It was the sweetest thing. She does Special Olympics and like I said, she helps with some of the younger classes as a helper, which is really good for her socially. She got really close with a lot of her little kindergarten friends and the teacher said, hey, can we give her a going away? I said, sure. I'm thinking a couple signs. That morning, her aide called me and said, this is going to be a bigger deal. We went and they had her classmates at the time she was in sixth grade and her kindergarten friends made signs. They had a sash. They had a cheered her as she walked out of the school. I mean, it was just the sweetest thing. It was like everything I've ever wanted for her in one moment, the acceptance of her, the recognizing her strengths, knowing that she supported and this huge community of kids. It was just very emotional for us as well. That's all you ever want. All I ever wanted is her to be accepted and to have this group of kids who was there cheering her on, supporting her. They all made signs. It was definitely one of those moments I'll never forget. It's still making me tear up now. I know you're going to make me cry. I've watched it a thousand times and every time I cry, I'm like, every child should have that. It's what you want, especially with a child with special needs. All you ever want is for them to be accepted and for people to realize what a blessing they are and what they bring. And to realize that moment was that one moment, you know. So it was amazing and wonderful. EMILY: I think the past two guests that I've had on have been asking about friendships and it sounded like that wasn't really something that their kids were interested in and that kind of made me a little bit nervous. I know even Lisa Patterson who was like the third person that I interviewed and now we are friends. She actually called me up to tell me that, you know, that her daughter is friends. And so now it sounds like, you know, Allie has friends and that kind of makes me feel a little bit better, the acceptance and that they can have friendships. SHERRI: And I was a little bit nervous about that. The lack of speech is a challenge to friendships because obviously having her with kids, just typical kids, kids with disabilities, just being together, they kind of somewhat, especially when they're little, they don't have to talk. They can just play next to each other, you know. And then I think those friendships also happen because we've been with those kids for so many years. So they just know her, you know, and just accept her. And they're just really amazing children with amazing families who respect that people are different. So she does have friends, you know, it's a little different as a teenager because teenage girls are into TikTok and boys and she's not into any of that. So I think her friends lately are a little younger than her. And that's okay. And then she also has a group of friends. And she does special needs cheerleading. And we have a great group of friends and families who are part of that. And a lot of those girls are older. So it's been great for her because she's got some older friends and some younger friends. And for me, it's been great. So I have this group of parents to ask questions because I didn't know anyone with special needs children when she was born. So she has a, she has friends of all different areas. She's so social that that's her happiness is being around people. EMILY: Thank you for putting some of my fears to her. Thank you. That helps other people that are that are listening. Um, and so switching gears a little bit, uh, some of the people that listen to the podcast were asking me some questions that, um, I think you're probably a good person to answer. And that's kind of around discipline. When Allie is acting out, sort of what's, what were the best therapies that helped you sort of control some of her bad behavior? SHERRI: Sure. Definitely ABA. Um, and then I mentioned, I think once we, when she was able to communicate her frustration level and her behavior issues were dramatically reduced, because I think a lot of it was, she just was frustrated. She couldn't tell us what she needed. Um, you know, we have, we have really tried, tried, which is to not treat her that much different than her neurotypical brother. So if he did something and he would have been in trouble, then we tried to not let her get by with the same thing. Now we had to obviously discipline a little bit different, but I tried to never let the fact that she has these challenges be an excuse for her to get by with things that maybe I wouldn't have done if it were her brother. So, um, and sometimes he'll call me on it, you know, we have a rule, we have no electronics at the table at dinner and sometimes she brings her iPad and I just want to have a quiet dinner and he'll be like, mom, I couldn't do that. I'm like, yeah, you're right. Put it up. Um, you know, modified, but we've, we've tried to trace her and, you know, we say the same thing at school. If she's doing something at school that you wouldn't let another student do, then you treat her exactly the same. We have, we've tried to not do things differently and, and she's smart enough and she's observant as she knows. Um, and so I don't know if that's my answer. Um, certainly the biggest issues we had ADL help us, but I've never, we've never tried to let her disabilities be an excuse for allowing her to do things we wouldn't have allowed her to do if she didn't have that. EMILY: Yeah. I like that answer. Um, and what is the relationship between Ally and her brother? SHERRI: Oh, it's just, it's just the sweetest thing. She absolutely adores him. I mean, she thinks he can do no wrong. Um, he's a teenager. So, you know, now he's kind of into teenager things, but he's super kind with her when they were younger. Um, he was always our peer model because I would have to take him with me when I took her to therapy. I didn't have remorse to take him. So a lot of times he was the peer model in these clinics and then, you know, they would say, we want the child to do this. Maddox, can you imitate. And so he was very involved and we've always really included him. Um, you know, we talk about what her therapies are, medical issues, whatever. We've never really screened him from any of that. So I think he's, he's always been very mature. Um, he's always kind of been part of that. He, he's super kind with her. Um, yeah, his friends are kind with her. I mean, she's just, she's just part of her family. I mean, he's, he's going to be going to college in a couple of years and that's going to be really hard on her because she, she adores him. And when he's not with us, she wants to know where he is and when he's going to be at home. And as soon as he comes home, she runs and gives them a hug at the door. So talk to me in a couple of years, I'm going to be a sobbing mess. Cause it's going to be, it's going to be hard, but they've always had a really sweet relationship. I think he is, um, very even killed kid, you know, nothing browsles him too much. He doesn't get too uptight about anything. He just kind of goes with the flow and, you know, just kind of knows this is how it is. He doesn't know any different. He's never not had a sister with special needs. So, this is all he knows, but, um, it's, it's a sweet relationship. EMILY: Okay. We're down to my last question. Where do you see Allie in 10 years? SHERRI: You know, that's interesting. So I mentioned that she has this group of friends that she does cheer with. Um, a lot of them go to, there's a, like a day program here where the, that adults with disabilities go, they do crafts, they do activities, they go in the community and volunteer. I see her maybe doing some of that during the day. She loves animals, dogs, and she loves little kids, and she's really good with younger children. I could almost see her volunteering in a daycare or a preschool as a helper because it's kind of like a family. I mean, I'm not sure how much to those kids and they really connect with her. I could see her doing something like that. I don't know, that's kind of where I see her. She's so social, we will have to, whatever she does, she has to be around people. I mean, that's what makes her happy. And she's very helpful, like around the house. I mean, she has chores, we have her full kitchen towels. I mean, maybe a little volunteer job where she has something that she can do that's a skill she can learn and keep practicing. So that's probably where we see her. I think she'll live at home. I think she could get the skills to live independently, but she sees only the good in people and I feel like she might be taken into the manage of on her own. I don't know how else to say that. She never sees bad. Everyone is wonderful and beautiful and the sky is rainbows and butterflies. And I just worried worry about her being on her own that she wouldn't be safe, possibly. So, I always see her living with us or sometime when we're not able to care for her, I think she would do great in an adult community with other adults with disabilities. EMILY: It's a blessing and a curse how they see the good in everybody. So it does make me nervous as well sometimes. SHERRI: It is. And she never sees bad, which is a really beautiful thing. It also makes you nervous as a parent, because all you have to do is the stranger can come up and go, hi, Allie. And she acts like she's their best friend. We don't know that person. But she's, yeah, she only sees good, which is really beautiful trait too. EMILY: So, I remember at the conference, somebody put a phone up in front of her with a mom that couldn't attend and she's like, hi, new friend. And that meant so much to me to see her do that. I was like, oh. SHERRI: I never saw that. That's so cute. I didn't realize she had done that. She is she's so outgoing. I mean, she wants to meet everyone and get to know you. And like, like I said, social is her is her strength. I mean, she just loves people. EMILY: Okay. And before I let you go, anything that you that I didn't touch on or you have any other advice for parents of younger or recently diagnosed kids? I just say never set limits for your child. Kids are amazing. And there's so many things that over the last 14 years, we never thought were possible. And she continues to do them. I mean, never set limits because they can always accomplish it. It just takes a lot of effort. And sometimes the progress is slow. And sometimes you feel like it's never going to happen. But eventually it does, like swimming was a perfect example. I wanted Allie to learn to swim her brothers a competitive swimmer where around water, she just won lessons for seven years. At one point, I was like, just throw her in the water. And you know, I just and then now and then once she got it, she got it and she's on a swim team now. So it's just the process is slower, but they can always get there. It just takes time and you just have to be patient. And it will happen. I also will say, you know, we were we were pretty intense with therapies, we still are. We've done a lot of things and there's no question that therapy does help, especially, you know, it was really anytime. But those fears for you first few years, I mean, my recommendation would be do as much as you can, because it really does change the outcome for her. It did it for her anyway. Children amazing, they see the world in such such a beautiful way. I mean, we've often said she's just inspiring, no matter what she goes through, how hard things are, you know, she's always has a smile on her face. And we all can learn a lot from our kids. They don't get sad. I mean, she doesn't get sad. She doesn't get upset. She's the hardest working, hardest working person I know. And she always is happy. So. EMILY: Perfect! Well, thank you so much for all of this. SHERRI: You're so welcome. PODCAST EXIT: Thank you. Thanks for listening. I hope you found today's discussion helpful in your rare journey. If there are any other topics you want me to discuss, questions you have for some guests, or if you want to be a guest in the show yourself, please reach out to me via the email included in the skdeas.org to learn more about Scrabin-Deerdorf syndrome and consider making a donation to fund research to help our kids. Talk soon.
Episode 7
Sherri Blaik: Helpful tips for success at potty training our rare children
PODCAST INTRODUCTION: This is Emily Beauclair and you’re listening to the Smiles Included Podcast: Navigating Through Life with our Rare Disease Superheroes. EMILY: Hi everybody, this is Part 2 of my interview with Sherri Blaik and I basically just took the potty training section out of the first interview and have this podcast entirely devoted to that topic. Sherri had presented on potty training at the Family Conference, so I asked her to come on this podcast and re-present what she talked about because it was a lot. It is a very intense way to potty train. But Sherri is one of the few people that I know that has a child with Skraban-Deardorff that has been successful with potty training, and that's why I asked her to come on and walk us through how she did it. One thing that I did not talk about with Sherri, and I probably should have is why potty training is such an important topic. And honestly, it's probably something that I never really thought about until I came out of the pandemic. I'm now taking my 4 year old son into the ladies room and hoping that there is a changing table that we can use. But also that the changing table isn't right out in the open because I remember changing Joe once and just being mortified at, I guess, how undignified it was for him as a four year old being changed in front of all these women that are waiting in line to use the restroom. It's OK when he's a baby, but it's not OK as he gets older and more aware and everyone else gets more aware that he's older as well. A lot of times I'll try to take him into the handicap bathroom and have him stand up while I try to change him, but that gets harder and harder as well. And oftentimes when we're out in public, he's got to stay soiled for a little bit longer so we can get to the car and I can change them in the car. So that's kind of why I'm so desperate for potty training to be successful. But I really feel for the parents of older kids and adults and really anybody that has special needs that needs to use a bathroom in a public location. If any of my listeners have a solution for this problem, please reach out to me. I would love to talk to you, and I'm sure others would love to hear from you as well. But for now, here is Sherri Blaik, who is going to hopefully help some of us potty train our children. She is the mom to Allie who has Skraban-Deardorff. So here we go, kind of picking up mid interview. INTERVIEW EMILY: You had at the Family Conference talked about potty training and you're one of the few moms that has been successful. So please, please help. SHERRI: Sure, sure. Again, this is one of those things. I can't take all the credit for it because we had an amazing therapy team who helped us. So we used a method called Foxx Azrin. And there's actually a book out there called toilet training in less than a day. It was written in the 70s, so some of the terms they hear use would probably not be considered appropriate today, but it's the same concept. This is a method that our ABA team also recommended that they use with a lot of their children. And it's a very intense. It basically requires you to live in your bathroom. So I did it over Christmas break and I set my son to go live with my sister for a few days because you really need to 100% it's your job. I mean it's what you do. So kind of the concept is you want your child to have accidents because every accident is an opportunity to learn what to do. So you kind of live in your bathroom. You know, for her we had a stack of underwear, a t-shirt…and you feed them, you make them drink a lot of water because obviously more liquid in the more liquid out and. There’s a whole schedule and I actually wrote up a memo that is in the files section of our Facebook page that kind of goes through all the details. But the first thing you do is you get them up and you set them on the potty for 20 minutes hoping that they go to the bathroom. If they don't, you get off and you set a timer and every 5 minutes you say you know, are you dry and then you have the child. And if you have to do hand over hand, you do hand over hand, have them touch their bottom. Are you dry? Oh, you are dry. Good job. And like, for Allie we would give her sticker because that was a motivator at the time. And this whole time you're pushing fluids. You know, for her, we had her eat pretzels. We had her eat French fries from McDonald's. Anything that would be salty that would make her thirsty. And we're really, really shoving liquid down her. I got those juice boxes and was like, squeeze them in her mouth, you know, because you want her to pee. And you do that every five minutes. Then I think it's every 20 minutes, you would sit around the potty. And she sits there for 5 minutes. If she happens to go the bathroom while she's on the potty, then it's a huge party. Oh my goodness, she went to the bathroom. I mean, there's, you know, all the favorite things she got, M&M or whatever the motivator is, and then you get off and you do it again. And so that's why I'm saying this is literally all you do because you're setting a timer for 5 minutes and checking every five minutes and then every 20 minutes sitting on the potty. When they do have an accident, which will happen, which is good because that's how they learn and you do a thing called positive practice. So wherever she would be in the bathroom, I would, you know, have her touch her bottom. Are you dry? You are not dry. Peepee goes in the potty and then you run them quickly to the toilet. Pull down the underwear, sit on the toilet for a second, pull them back off the toilet. Pull the wet underwear up. Go back to where they had the accident. You know, are you dry? No…pee pee goes in the potty and you're not emotional, you're not mad. You're just saying, you know, very direct. This is how it goes. You do that five times. You take off their underwear, you put a clean pair of underwear, you clean up the floor and you start this process every 5 minutes so you can see it's extremely intense. It's all you can do. I mean, you can't even answer your phone or text or anything. So we started it with Allie at 6:00 AM we started immediately when she got out. By 10:30, 1/2 hours later she was self initiating. So self initiating is she would start feeling like she had an accident and she would walk to the toilet, which is huge. So we did that that whole day and then we kind of moved into what she and again, once she did that, it was the biggest party ever. I think she had 10 accidents in that 4 hour time before she started self initiating. And you can't tell them what to do because you want them to be initiating it. So we actually we used like a little potty not like our real toilet because she physically couldn't get up to the real toilet. So we just, you know this little one just sit on the floor. So I would just kind of like walk around the toilet, stare at the toilet, but you didn't say go sit on the toilet because you want them to initiate it. So once you did that the first day then we moved to like the family room. Now we're further away and the toilets out of view. You initiate that and then you just kind of go throughout your house. So I think it took us about four days. We did family room, we did a bedroom and then we went out in public and we tried the same thing. And when you do have to go out, like, you don't put a pull up on, you leave the underwear on and then like put a pull up on top of it because you want her to feel it wet. So you never ever do the pull up again because you want them to feel that. So that's what we did. It took us five days, six days, maybe 5 to do the whole thing. But she was self initiating the whole time. She would be, you know, two or three times and then she'd have an accident and then you just go back through that positive practice. It worked. She was five and I had tried so many things before then because I had another child already potty trained and nothing really worked. I just think that repetition is what she needed. So that was it. She was not bowel trained for about 6 more months and they told us to not even worry about that because you probably get one opportunity a day. So we just didn't worry about that. When she'd have an accident, we just clean her up and then eventually she started figuring that out too. But. That was our procedure. It's certainly not for everyone, because it's very intense. But I was at the point I didn't care. I just wanted to be done with it. So I was ready to make that commitment and live in my bathroom, and we took shifts. I would take a shift, my husband would take a shift, a therapist would take a shift, because. It's intense. It's hard. You know, three hours was about your Max. You you're like, I'm going to lose my mind. EMILY: You mentioned not being emotional. I don't think I can do that. SHERRI: That's why we took shifts. Because it's exhausting, you know? It's hard. And that's why we, you know, 2-3 hours and we would I had a whole schedule, you know, we all had a little shift that we did and after those 2 hours was like, OK, we need to take a break. So we had, you know, we had several people helping with it. But it it worked for us. EMILY: Yeah. I just want to be done with diapers. SHERRI: Well, I had tried all the things because I wasn't ready to do that intense program yet and I just kept trying and tried and finally I was like, I am so tired of trying different things and cleaning up accidents and cleaning carpet. I finally was we were both at my husband and I were both at the point of it doesn't matter we just we need to get this done and so that's why we did it over Christmas break which wasn't the most fun to do, but we knew that we would both be home and I could have help with, you know, my son. So that was our procedure. EMILY: Yeah, I mean, it's very, very intense, but I'm kind of desperate, so I think I might have to might have to try this. And is she potty trained at night as well? SHERRI: She is, she is. EMILY: Wow. SHERRI: Once she potty trained. Maybe a few months later she would, she would. But she was at night. I really never put pulls back on her. I've always put the underwear and then the pull up at night. But once she kind of got that sensation that she really didn't, we just make her go to the bathroom right before bed and then as soon as we heard her, heard her getting up in the morning, we run up to her bedroom and immediately take her to the toilet. So if we waited that whole, oh, I think she's getting up, lay around in bed, she would have an accident. So we would literally make a mad dash upstairs and immediately put her on the toilet. So yeah, it was pretty quickly after. EMILY: That's so impressive. SHERRI: Thank you. It was intense, but you know, I thought we did it so. It EMILY: Man, I can't wait to hear if this helps anybody else and if anybody else has success. SHERRI: Anyone else wants to spend a week in their bathroom living? EMILY: Yeah. SHERRI: Her ABA team again, this was a procedure they had used. They had recommended it. Her ABA therapist had told me she had never had a child that she was not able to potty train using this method, she said. I think the longest was they had a boy who was, I think he had autism, but he was 17 or 18 and she said it took 15 days of living in the bathroom, but he finally got it. So, I mean, the fact that we were there for half a day was amazing. You know, it was wonderful because we were prepared that it might take the whole week or the whole next week. I mean, that's why we just kind of blocked off that Christmas because neither one of us worked that week. But it may not happen in a day and, you know, you just have to be consistent, so not the easiest thing, but. That's what we did. EMILY: I'm going to try it. I will let you know how it goes. SHERRI: Let me know how that weekend in your bathroom feels. EMILY: I know. I have to. I have to find this week that I'm going to do it, and stay non emotional, which my husband will already tell me is impossible for me. But we have to make this happen. So thank you. Thank you for walking us through that. SHERRI: You're welcome. The non emotional part. And it is hard because your child will be emotional because even though you're just saying pee pee goes in the potty, you're just saying it, but they know that it wasn't. They didn't get rewarded for it, you know? EMILY: Yeah. SHERRI: So she cried. She got upset, which is again why we took shifts, because a couple hours, 2-3 hours. We needed a break, you know, EMILY: Yeah. SHERRI: Then the next person who was fresh would pop in for their shift. But it is it is emotional for the child and you have to kind of be prepared that it's not going to be a happy thing for them. So that was us. PODCAST EXIT: Thanks for listening. I hope you found today’s discussion helpful in your rare journey. If there are any other topics you would like me to discuss, questions you have for guests, or if you want to be a guest on the show yourself, please reach out to me via the email included in the show description. Please also visit skdeas.org to learn more about Skraban-Deardorff and consider making a donation to help fund research to help our kids. Talk soon.
Episode 8
Yelena House: Reminding us that raising a SKDEAS kid is a marathon, not a sprint, and our kids will constantly surprise us
PODCAST INTRODUCTION: This is Emily Beauclair and you're listening to the Smiles Included podcast, navigating through life with our rare disease superheroes. Hi everybody, welcome to Episode 8. Today I'm interviewing Yelena House, who is the mom to Andrew, who is 19 and has Skraban-Deardorff. And I've actually been wanting to talk to her for a while and that's because of something we even talk about in this podcast, is when I first got the diagnosis for my son, and I went down that path of trying to figure out what this meant. And of course, googling and reading everything about Skraban-Deardorff is quite depressing and not very helpful. And then I found the Skraban-Deardorff Facebook group and probably spent hours on that and was scrolling through it and found a video of Andrew cooking. It was actually, basically he was filming a cooking video, where he was walking through how he was making cookies, what ingredients he was using, you know, what he was doing along the way. And it was just so amazing to see, you know, somebody older with the same thing that my son had. And it's just a perfect example of why I love that people are so willing to share their stories. That was the first time that I had hope that my son will be able to speak. And we all need that. So, so I want to officially thank Yelena for sharing that on Facebook, but also for talking to me for this podcast and sharing her story and Andrew's story with all of us. And I hope it does bring some hope to everybody of, you know, some of the great things that our kids can achieve. I think, she just gives so much great advice of, you know, keeping our head up and keep going. And I think a lot of us need to hear what she has to say. Please enjoy my interview with Yelena. EMILY: Hi, Yelena and welcome to the podcast. Let's kick it off the way I normally do with you telling me a little bit about your family. YELENA: Yes, absolutely. Well, first of all, thank you so much for having me here. It's a pleasure to be here. So, a little bit about myself and my family. We live in Pacific Northwest, in Washington state. My husband and I, we are raising two boys. Our younger one is Nick, he's 17. He is a neurotypical child. And he's older brother is Andrew, who just turned 19. And he's our special child. EMILY: So, tell us a little bit about Andrew. YELENA: So, Andrew's 19 now. EMILY: How old was he when he was diagnosed with Skraban-Deardorff? YELENA: It was only two years ago in 1920. I'm sorry, 2022 😊. EMILY: It's hard to keep track of the dates. So, does Andrew have anything else other than Skraban-Deardorff? YELENA: He has a number of diagnoses actually. It was a very long journey to get to where we are right now. Well, let me take a step back. When Andrew was born, he was born pre- mature. He was delivered through C-section at the 37 weeks. We spent a week in the hospital in intensive care. But then when we came home, everything seems to be normal. He was a happy baby. He ate well. He slept well. He gained quite a bit of weight. Even though he was born 5 pounds, 8 ounces, by the time he was 3 months old, he already was in 75th percentile. As the time goes by, I started noticing that maybe he is a little bit delayed. He wasn't sitting when he was supposed to. He wasn’t crawling … and at 9 months old, we of course go to our primary care physician on the schedule, I was expressing my concerns. But I was told that the development scale is very long and he is just at the other end of it. That was going on until he was like a year and a half. A year and a half, I said, look, he wasn't crawling until he was 12. We actually took him to physical therapy and started working with him on crawling. At the 14 months, he actually started walking. He started walking fairly fast. We went for the evaluation with a neurologist at a year and a half, who didn't express any concerns. Then 6 months later, we ended up with a different neurologist. Andrew was 2 at that time. Suddenly, we got the diagnosis, Global Development Delays. I was completely devastated. I was just giving the diagnosis and it was like, there you go. Nothing, no suggestions, what to do, where to go. I just couldn't believe how is it even possible to see all those doctors all these years and not a single concern. Suddenly, you have this very bad- sounding diagnosis of Global Development Delays. I started researching what we can do. I started looking for the resources. We ended up in a “birth to three” program, but Andrew was almost turning three at the time. We were only there for two months. From that point, I started looking into the further diagnostics, different doctors. We signed up with Seattle Children's Hospital. We waited for nine months to get in and I actually was very excited about the appointment when I was thinking we will be evaluated by multidisciplinary team and we will get the answers. Nothing really came out of it either. We got PDD-NOS, which is Pervasive Development Delays, otherwise not specified. Then later on, we got atypical autism, which I was very much frustrated with as well. Andrew was very social. He was very much interested in people. He was non-verbal. He did have stereotypical behaviors, but then later on I realized those behaviors actually came because of his OCD and anxiety. It really felt like he didn't really fit in with this diagnosis. That was helpful in a way. We at least started looking at how we can help with all of the challenges that he was experiencing. He was delayed in speech, he was delayed with his motor function, with fine motor, gross motor. He had sensitivity issues. EMILY: It's interesting your experience being 15 years before mine, but still very similar. I hate that you had to wait so long to get your diagnosis, but it's like even just getting the global delays. That diagnosis so late meant that you couldn't get into the birth to three program until really late, which that's unfortunate. Then did you put Andrew in regular school? How did that work? YELENA: So, because I wasn't realizing, well I didn't know to what extent he's affected, right? I was really hoping that with extra work, with extra therapies, with maybe private tutoring, he could catch up. And actually a lot of doctors were saying, we don't see…, there weren’t saying, there's nothing wrong with him, but they were saying, “we feel like he can catch up”, you know, “you still have time, right?” When he was three, like he's still... EMILY: Yeah, I'm not surprised they were saying that to you. YELENA: And especially Andrew was raised in the household where there are two languages, like specifically for speeches, that don't worry, he will start speaking sometimes soon because he has to learn two languages. Well, I know that some of my friends, they're kids, they learn two languages and they're already miles ahead of him in speech. So, I held him back for kindergarten and we got him ABA therapist who worked with him at home. And then when the time came to go to school, I looked at the options… in public school, they offered him a class which wasn't inclusive. And I really thought that was crucial for him to have typical peers. Because Andrew was such an observer, like he would be very much hesitant to initiate activities, but he would just stay and observe the other kids. And it's normal because that's how he learns, right? So, I thought, if I would put him in a class where he won't have typical peers, it just might put him even further behind. EMILY: I mean, this is like Twilight Zone because I'm feeling like this is... If I didn't have the Skraban-Deardorff diagnosis, I was going down the same path that you were. I kept thinking like, I'll probably just leave him behind a year and then he'll be with the... Then maybe he'll be fit and better. So the fact that it's just... Like I'm thinking that you are where I would have been if I didn't have the diagnosis. YELENA: I think, really getting a diagnosis was... to us, was a huge relief. EMILY: Tell me a little bit more about his story going, I guess, because there's so much time between where you are and getting the diagnosis. What was his life like? YELENA: Yes, so let me finish about school and I will.. EMILY: I'm cutting out, I'm so interested [laughs] YELENA: [laughs] I know, I'm jumping all over, I apologize. So yes, so we put him in a private school. We were fortunate, we found a school. It was a very small school run from someone's basement. Actually a group of Microsoft parents, they organized the school for their kids and that's how we got in. What I really like about the school was one-on-one attention and they were planning to expand. And then in fact they expand quite quickly and in his class he did have typical peers which served as a role model for him and other kids. But also this school was under ABA umbrella. And that was kind of a good of both worlds because insurance would actually pay because it was our insurance covered ABA. That was very helpful. Otherwise the private school was very expensive. We still had to pay out of pocket but it wasn't as much as it would be without insurance. Yes, and so that's where Andrew was until he graduated. He graduated two years ago. He didn't get a high school diploma, he did get the certificate of accomplishment. But it really was our choice because we thought that it might be more useful for Andrew to work on lifelong skills versus academics. EMILY: And Andrew can speak. So, when did he get his voice? YELENA: I'll share the story with you. Every time I share the story I cry, I try not to. So, I will tell you a little bit about what we did and … just sequences of events. I don't want to make any claims because other parents might take it in the wrong way. I guess what I'm trying to say, and you will understand why I’m saying that, I don't want to give people false hopes. Because honestly, just a step back, we've done so many things with Andrew. We did mainstream therapies, we did biomedical interventions, at some point we even did steam cells, we did hyperbaric oxygen therapy. And every time we did something we've seen improvements, we've seen results, did it really correlate to specific therapy? I can't really say that. Sometimes it might be coincidental, we never know. In fact, one time we decided to do the biomedical protocol, I already got all the vitamins and I decided to start him. But then I changed my mind and a week from that he had a huge developmental leap. And I was talking to my husband, I said, Rob, if we would start him on these vitamins, we would think this is the miracle and that's what exactly did it. So I really have to be careful with claims, I think, or correlating things which might have nothing to do with one another. But in our case, since you asked me, we did hyperbaric oxygen therapy with Andrew. Back then Dr. Rossignol, Dr Neubauer, Dr. Hirch, they would become hyperbaric therapy experts. There was some research in certain areas, I know that hyperbaric, at least what I read, helps people with cerebral palsy. I read some other things, so we decided to try. I believe it was Dr. Neubauer protocol, 90 hours with a soft chamber, I still have it in my garage, it's a soft - shell chamber. And we had to dive in there for 90 hours, it was hour and a half in the morning, hour and a half at night. I think it was 30 days straight. So at that point Andrew was four, he was nonverbal, he had three words in his vocabulary. It was “help”, “daddy” and “mommy”, that's it, nothing else. After we did the protocol, probably a week, a week to ten days from there, I was cooking breakfast for Andrew, I was in a hurry, I burned his pancakes, I put the plate of pancakes in front of him and I said. “Andrew, I'm so sorry I burned your pancakes” and he said, “mommy, don't worry, those pancakes as beautiful as my beautiful mommy”. EMILY: Oh my God. YELENA: And I just started crying. EMILY: All of those words at once? YELENA: All of those words at once, it's a whole sentence, it's so well put. And I was thinking like, oh my goodness, what was going on in his little head? He has all these capabilities of speaking, putting together such complicated sentences, he wasn't able to get it out. But then again, I would never say if anyone asked me, was it the hyperbaric therapy that did it, I can't really say if it was. It's of course easy to call it and say, oh my God, we've done it and look at the results, but there is no scientific proof to it. EMILY: Yeah, wow. So you're making me cry because I just know my son has all these words inside of him and I always want to know what he's saying and the fact that your son just went from a couple of words to just a sentence. So after he said that, was he just speaking? YELENA: That's interesting. He was, but not to the extent that suddenly he started speaking in full beautiful sentences and everything was cohesive, no. So, it still took him a long time. I think, the biggest problem for him was to construct the sentences. A lot of times he would start speaking backwards, the end of the sentence would come first. And of course it's work. He spent years and years in speech therapy. EMILY: How old was he when the pancake incident? YELENA: Yeah, he was four. EMILY: He was four? Oh, I was imagining him older. Oh, wow. So he got his speech at a younger age than a lot of the Skraban-Deardorff kids. That's okay. So, explain to me. So, hyperbolic chamber. Hyperbaric…Hyperbaric oxygen therapy. YELENA: Hyperbaric oxygen therapy. And I can send you links once we're done. It was a long time ago… I've read so much... I bought a book, like a thousand pages… it actually treats a lot of off-label diseases. So there is a soft shell chamber. There is a hard shell chamber and they supposed to have a different indications. And there is an indication for the hyperbaric therapy for certain poisons and wound healing, I believe. It's approved. EMILY: Wow. So then when he was going through school, he was able to communicate pretty well. YELENA: Well, I would say yes and no. He could. But then again, because I know he had a lot of things inside of him, a lot. And there was a lot of built emotions and maybe it was attention or maybe it was something else. I don't know. But when he would come home from school, he wasn't able to tell me what happened at school. He actually sometimes wouldn't even tell me what he had for lunch. In fact, I gave him lunch and that comes home and I said, Andrew, what did you have for lunch? He had no idea. All right. So we had another interesting story when Andrew really opened up for me that was maybe a couple of years ago. We did the acupuncture. I read somewhere that acupuncture is really good for releasing emotions and Andrew is a very emotional guy and I thought maybe that would help. And so we did the treatment and after the treatment, he came home and it just started pouring out of him. He started telling me all of his experiences when he was young, when he was in school. A lot of it was negative experiences. No one brought it to me ever at school. But I think because he wasn't really able to communicate that back to me and release those emotions, he started telling me what happened like 15 years ago. EMILY: Was it and those negative experiences was just like how he was treated or how he was treated? YELENA: Yeah. EMILY: I hate hearing that and I'm like, I keep hoping that the world is a better place now. But I don't know. I hear mixed things. But oh man. So are there any other just. out of the box weird therapies that you tried that may or may not have been successful? YELENA: I think we tried everything with the reason that I was able to find. We did tomatis listening therapy. We did therapy to help him with sensory issues, it was more like OT, it was in OT. EMILY: Are there any therapies that if you could do it all over again you would have totally avoided? YELENA: I would say I wouldn’t avoid the therapy, but I definitely would be more mindful and selective about people who I'm hiring to provide this therapy. Because really if we think about it, say ABA therapy, it's a great therapy, it's a great approach if it's done correctly… but who is implementing it? It really depends on the person who implements the therapy. Just looking back, some of the providers that we had just weren’t the right fit for Andrew. EMILY: Yeah, yeah, that makes sense and that's definitely good advice. Sometimes I do wonder, when I can't be there what's going on behind closed doors because I also, again, my son can't tell me. So, I do worry when he gets a voice later on that he's going to say, oh, that therapy was the worst, why'd you waste all my time? I'm like, your time? [laughs] I wasted hours driving you there. But hopefully nothing too negative but again, that's why I'm just desperate for my son to speak. So I'm very jealous and very happy for you that Andrew has found his voice so young. Did anything change for you when you got the diagnosis? YELENA: I would say definitely, yes. It was such a long journey. It took us 17 and a half years here to get the answer. It was a huge relief for us, it was important, but I think it's even more important for Andrew because when he was able to understand his challenges, identify himself, compare himself to others, he started asking me, he would come home and he would say, mom, such and such has a Down syndrome. But what do I have? I don't have Down syndrome. Like, yeah, you don't have Down syndrome. Such and such has autism… What do I have? I don't have autism. I said, yes, well…and I didn't really have a good answer for him. I was saying Andrew, everyone is different and you have just your own differences. And when we got diagnosed, I told Andrew that he has a Skraban-Deardorff syndrome and he went and he googled it, he read about it, he looked at the pictures of kids, he wrote it down, he went to school, he proudly shared with everyone that he has a syndrome. He was proud of it! [laughs] EMILY: Oh, I love that. I love that. That's amazing. And I think that's, yeah, you joined the larger community of Skraban-Deardorff, you know, kids and adults. YELENA: Exactly! It's really, finally, I have a feeling of you belong somewhere, you have a community. It's important. EMILY: Yeah, I think that's amazing. And I guess, can you walk us through a day in the life of Andrew right now? So right now, Andrew, he is in transition program. It's a work-to-school program from 18 to 21. Every morning, we get up around 7 o'clock, he has breakfast. His dad walks him to school about 10 minutes walk. Then Andrew spends his time there from 9 until 3. He works on life skills, they teach them how to manage the budget, how to write a resume. And more importantly they take them as volunteers. He goes to Salvation Army, he loves Salvation Army. He loves to work at the store and sort things. The sorting is his thing, or cleaning is his thing. He loves cleaning. And then he comes home. We have a snack, we go for a walk, we read. He watches shows, he listens to music, he loves singing. And that's how our day goes by. EMILY: How independent is he? For instance, I guess, when Andrew in five years, do you ever imagine that he'd be able to, or 10 years even, just live on his own, or maybe in an assisted living place, or do you think he might always be with you? YELENA: Yeah, Emily, it's a great question. I think it's a question no one knows the answer for. I have to say that our kids are amazing. And things that Andrew is capable of today, I never thought he would be, just even four years ago, honestly. You know, what's amazing about our kids is that they don't develop as typical children. And definitely we shouldn't have expectations as for typical children. Those families who have siblings who are neuro-typical, they could definitely see that you almost don't have to put a lot of efforts in a child. We do a lot of things for granted, right? With our Skraban-Deardorff children, it's a different story. You put so much effort just for simple things, right? Like when they're little… feeding or walking or crawling. But they also develop at a different rate. I actually, …let me share one story very quick, if I have time. When Andrew was two we taught him how to ride a bike. And it took us probably a year and a half. We would put him on the bike, we would show him how to do it. We would tie his feet to the bike and then we would do the motion, so he would learn how to do it. But no matter how hard we worked with him, every time he looks at the bike, he had no idea what to do with it. We really have to sit him down, tie his feet. And we're looking at Andrew thinking, he will never be able to ride a bike. And so with that kind of feeling, we go to work, we come home, and Andrew rides his bike, just going in the circles around the kitchen island. And my husband and I were absolutely blown away because that morning was no indication he even knows what a bike is. I actually talked to a neurologist about this. And he said one interesting thing. He said, imagine a building a highway. And then your highway has five lanes. You build the lane one, lane two, then lane four and five. And you cannot use it, there is nothing happening. And you build the lane number three and suddenly your whole highway is in full power and motion. And that's how his brain works. You might think he's not acquiring a skill, even though he already has this four lanes built. There is one gap left. It might be filled overnight. Maybe not overnight, but in a very short period of time, suddenly you see the skill comes out. EMILY: I love to hear you say that because some of the questions that I hear from people that listen to this or they ask, is this therapy actually working? I feel like I'm not seeing any results. And I think sometimes you don't see those results. And then all of a sudden it just clicks. But some of the therapies might not be doing anything. As you mentioned, you might have thought that one of your therapies caused a whole lot of success, the one that you didn't do. But I think one point when we were doing speech therapy when my son was two, I'm like, do we get this up? Because he is not speaking. But we're just going to continue pushing this for hours a day, or hours a week, I guess. But we should just keep going and you never know what they're absorbing. YELENA: Absolutely, absolutely, absolutely. I think, well, when Andrew was five or six years old, I remember myself, I got to the point where I was absolutely exhausted driving him from one therapy to another. He was in 20 hours plus therapies a week. And I didn't see any results and I was so frustrated. And then I've heard a phrase from one of the parents whose child had autism. The child was 17 and he was doing okay. He was actually going to college. And that parent said, just remember with our children, it's not a sprint, it's a marathon! And that's exactly what it is. I would say, don't get discouraged when you don't see results. You might not see any improvement for a year, maybe even for a couple of years. Don't give up, just keep going. And then one day this child will surprise you. Andrew is 19, he still surprises me. And the biggest progress he ever made, you might be surprised, in the last four years, from 15 to 19. I look back, four years back, he's totally different person. He is very mature. He is very much involved. He's totally different. I never thought he would have this level of maturity, understanding as he has today, just in four years... EMILY: Okay, because you answered another question, I had for you was, do you think he's still developing? It sounds like, I guess they're globally delayed, so maybe they're developing later on in life. YELENA: Absolutely. The curve is just…, yes, they will develop longer than other neuro-typical children, I believe. I see Andrew easily is a proof of that. EMILY: Yeah, and you mentioned you have another son. How is their relationship? YELENA: So, when they were little, they hung out together. They were good brothers to each other. Of course, any siblings, they would pick in one another, especially I would say Nick would pick on Andrew, because Nick realized later, even though Andrew is older brother, he kind of felt that he is older, maybe. Then we went for a very long period of time, I would say sort of darkness in their relationship, because Nick always felt that Andrew gets more attention, even though, and that naturally happens, right? I mean, if there are 20 hours of therapy I have to take my child, it's a 20 hours that my other child get less of my time. I tried to involve Nick, until he really understood that Andrew has a problem. He did have a lot of jealousy going on, and even poor little guy, because we took Andrew to so many doctors, and Nick didn't need any, he would start pretending he has issues, he would start complaining about his heart, his heart hurts, I had to take him to a doctor, of course there's nothing there. [laughs] I actually did sign up Nick one time for therapy as well, well Andrew was in the therapy, and Nick wasn't, I thought it wouldn't hurt and insurance covered..., so. EMILY: You do what you have to do, that's actually a pretty good idea. Yeah, because I think some of us have two kids, we worry about that, and yeah, I could see your younger son, feels like the older son, and also could feel left out. YELENA: We had a conversation with Nick when he was a little bit younger, maybe he was 15, 14, when he already started to understand that Andrew has an issue, that we love them equally, and that's the truth. It's just Nick needs way less guidance, and way less time, and Andrew needs more time, and more efforts, and it's kind of, it always fluctuates, like whenever I said, “Nick, whenever you need more time, my time, dad’s time, we give it to you, right”, and give him an example, and I think he got it. EMILY: Yeah, man, so okay. And even now, do they hang out, or does Andrew have a group of friends that he hangs out with? YELENA: Unfortunately, he doesn't. Andrew was always gravitated towards adults, I think because he was nonverbal for a long time, and even when he starts speaking, he actually does have a speech impediment, he stutters quite a bit, he's aware of it. And I think, it holds him back, and also Andrew has very specific interests, like Andrew, for all his time, he was into Kardashians. I don't watch the shows, I don't have time for that. I probably wouldn't mind, but I don't have time for that. He loves housewives, I don't watch the shows, and I didn't introduce him. He is all about relationships and drama, and I think Andrew learned quite a bit about relationships in those shows, maybe not through the great examples, but... So, you know, a lot of kids his age, they are into the gaming, Andrew is not. He always, felt more comfortable with women, rather than guys actually, I think maybe because women are more patient, maybe more nurturing, and maybe because through years of therapies, he had mostly female providers, maybe that has played a role, I don't know. But what's interesting, the school he went to, they had a paraeducators there, which were phenomenal, they provided such a great support. You know, my biggest fear always was that no one will show up at Andrew’s birthday. So, he had 19 birthdays, it never happened, we always had people, and Andrew called his teachers teacher- friends. And so now he calls them friends. Andrew is 19, they're actually, in their 30, …and so they even have things in common. Now they can talk about housewives shows and Kardashian’s. So, they still stay in touch, they left school a long time ago, one of them left school about five years ago, the other one, I think three. But they still keep in touch, and they show up at birthdays every year. And Andrew calls them, they call him back, and he considers them his friends. EMILY: That's amazing. And just even you telling me that he calls them, it's just, that is just something that I can't even imagine for my son. And it's just, like, I love hearing that. So, he's actually, you know, talking on the phone. That's amazing. [laughs] YELENA: But it really, really took a long time. EMILY: Yeah, I'm sure. And you've just given so many great stories and so much great advice. I don't know if there's any other advice that you have not already given that you still have for other parents that you want to impart on us. YELENA: I would say I really would reiterate the phrase that I've heard from a parent with the older child when I was frustrated. Just keep going. Remember, it's not the sprint, it's a marathon. It's really helpful to think that way when you find yourself in the corner, when you get frustrated, when you get discouraged. Because sometimes it takes a long time to see the results. EMILY: I think that will resonate with a lot of us. So thank you. You just gave me a lot of hope and I hope you gave a lot of other listeners hope of just sticking with it and you'll see some success. And maybe we won't see as much success as Andrew has had, but it does give me hope. I mean, it's even amazing that you're still seeing results now. YELENA: Absolutely, absolutely. And just remember, your child will surprise you. You will be amazed. EMILY: Your son just sounds very similar to mine. Your experiences sound very similar to mine. So it does give me hope because communication is like the biggest hurdle right now. Because I know there's so much in his head and we just can't get it out. YELENA: How old is your child? How old is your son? EMILY: He is four. He's about four and a half. Yeah. He's got a couple of words, but he won’t say it. He will not repeat it. YELENA: We actually went through that period of time as well. And also, I should probably mention that maybe that will be helpful for someone. We also went through the period where Andrew used, what the doctors called is Jargon, he basically would pretend he speaks. He's go you know, it's like he would pretend like it's a speech. EMILY: My son could have a whole conversation like that. YELENA: Exactly. Exactly. And it's a wonderful, wonderful sign. Because as I was explained, it's actually the sign that speech is coming. It's like, it's a babble like a two year old, a year and a half, you know, when they start babbling. I actually, I was slightly frustrated with this, and I was trying to tell Andrew to use words and to say things, but it was so cute. I remember kids were little and Andrew was going through this jargon. And I told Andrew in the car with his brother, I said, Andrew, stop, you need to use words, say this. And Nick said, Mom, don't do that. I understand. I know exactly what he's saying. I look at him. I said, what is he saying? And he goes, blah, blah, blah, blah, blah, blah. Yeah. Exactly what he was saying. Yeah. So, so, so it's a really good sign. EMILY: Okay. Okay, good. I like to hear that because there's a lot of, there's a lot of that like whole conversations of babbling. YELENA: Yes. Yes. So, yes. Okay, good. It’s a sure sign of the development of speech. EMILY: So, another thing that I have to mention is when I first got the Skraban-Deardorff diagnosis for my son and I went on Facebook on the Skraban-Deardorff page and was scrolling through it. I stumbled on the video of your son and I just, I was like, I ran upstairs to show my husband. I was like, he's speaking. He's having, he's like doing a cooking video. He was actually doing a cooking video for people. And I was amazed. YELENA: I put this video out there for other parents to get encouragement, because I was exactly in your shoes and it's just the parents who just started this journey. And I remember how much frustrated I was, how much, you know, how much I didn't know. I didn't know what to anticipate. And when your child doesn't speak and all the other children his age speak, it's hard to believe your child will, right? So, so yes, things happen. And things will happen to your children as well, to your child. EMILY: I feel badly for you having to go through so many years and you're the trailblazer for all of us and you have more unknown of head of you where at least some of us with the younger kids are looking at you and be like, at least we know what the next 10 years might look like. So we're just going to keep watching you on how Andrew progresses. YELENA: And I will be happy to share. [laughs] EMILY: Okay, well, thank you so much. YELENA: Oh, thank you. Thank you for having me here. PODCAST EXIT: Thanks for listening. I hope you found today's discussion helpful in your rare journey. If there are any other topics you want me to discuss, questions you have for some guests, or if you want to be a guest in the show yourself, please reach out to me via the email included in the show description. Please also visit skdeas.org to learn more about Skraban-Deardorff and consider making a donation to help fund research to help our kids. Talk soon.
Episode 9
Andrew Houser: A SKDEAS superhero talks to us about what the diagnosis has meant to him and impacted his life
PODCAST INTRODUCTION: EMILY: This is Emily Beauclair, and you're listening to the Smiles Included podcast, navigating through life with our rare disease superheroes. Hi, everybody. It's been forever since I've recorded a podcast, and I apologize. Life happens, but I am back, and I'm very excited about my guest today. I hope it makes up for the absence because I'm actually interviewing Andrew Houser, who is one of our Skraban-Deardorff superheroes. So if you listened to my last podcast with Yelena House, that's Andrew's mom, and we spoke a lot about Andrew. So he agreed to actually come on the show and give us his story. So I am really excited. A lot of us in the Skraban-Deardorff community know Andrew or know of Andrew or have seen his videos online, and it's a real treat to actually get to record what he has to say. I'm extremely grateful to Andrew for agreeing to participate in this podcast and sharing his side of the story and what this diagnosis means to him, because for most people, this is the first time that they're ever hearing directly from somebody that has been diagnosed with Skraban-Deardorff, and that's pretty special. So I hope his personality comes out in this podcast because it's such a joy to talk to him. He did such a great job, and we had a lot of fun recording this, so I'm just going to cut right to the interview. INTERVIEW EMILY: Andrew, thank you so much for being here. I’m so excited to talk to you. ANDREW: Thank you, Emily. EMILY: Okay, so tell us a little bit about yourself. ANDREW: I live in Washington State. I am 19 years old, and I have, my mom is Yelena and my wonderful dad named Rob, and I have a brother named Nick, and he plays the piano. And I go to school at the Evergreen Transition Program. We do life skills, job training. I come back at 3 p.m, 3:30 to come back to school, no to come back home, and after that, I go for a walk with my mom. We go hiking, and I love hiking because it's exercise, it's important. Then I also research Housewives, Kardashians, sometimes the news. EMILY: I know your love of reality television, so I'm glad to hear you like the news as well. What else do you like to do? ANDREW: I like to do Marco Polo with my childhood friends. My friends are Mariah and Cooper, they are my former teachers from my Seattle school. It's called APL, it's in Seattle. So, yeah. EMILY: Fantastic, and I hear you have, so I know you have a dog, but I hear you have strange pets. ANDREW: I do. EMILY: What else do you have other than your dog? ANDREW: I have chickens in my backyard. EMILY: Do you like the chickens? ANDREW: Not really, but I don't like them, they're just cute animals. I don't have any feelings about them. So yeah, I have chickens. I have five chickens. No, six or five. I can't remember because they all died from the raccoons. So I lost count of how much chickens I have. So I go for a walk with my dog with my dad and my mom sometimes. And then also I have a cat named Basted and she's so cute. And I also, Michelle Obama wrote me a letter at the White House. EMILY: Michelle Obama? ANDREW: Wrote me a letter in the White House. EMILY: What? How’d that happen? ANDREW: So Mrs. Obama wrote me a letter in the White House because I wrote her a letter in the White House. This was in my middle school days and from my APL years, and Mrs. Obama, I wrote her a letter and she wrote me back and she replied to me and I still have it in my room. It's like a black picture frame, it’s beautiful, I love it every day. I will send you guys, I will send you pictures after the interview so you can see it. EMILY: Yeah. ANDREW: And it made my day and she sent me pictures of her dogs and her family and her daughters. And she said, she wrote me a letter and that letter was very special to me and I still have it in my room. So yeah, it's just awesome that she did it. I never knew that Michelle Obama would write me a letter. EMILY: Yeah. ANDREW: I never knew that, it was a surprise to me. EMILY: Well, I guess she found you just as special as we all do Andrew. ANDREW: Thank you. EMILY: So that's nice, and I know I do know you love politics. ANDREW: I do like politics. Yes, I think my mama told you. EMILY: Yeah. During some of our conversations, you have mentioned it. Which is good. You're, you're getting involved. ANDREW: Thank you. EMILY: Okay, so I know a lot of our kids have to go through so many therapies and we don't, we don't know what's working, what they hate, what they like, so I would like to hear from you as one of the older kids. What do you remember, like do you remember what kind of therapies you did as a kid and if there's any that you hated or liked? ANDREW: Oh yeah, um, I did hippotherapy. I did ABA, I did physical therapy. And the hated, the most hated therapy I think Emily is probably vision therapy because I refused to wear my glasses. So I don't, I refused to wear my glasses. EMILY: Yeah. ANDREW: And the doctor said oh you have to wear your glasses and one day I never came back to that therapy again. EMILY: Okay. ANDREW: Because he told me to wear my glasses. EMILY: Yeah. ANDRE: I refused. EMILY: And you don't wear glasses now? ANDREW: I do, I have them in my, in my room, but I hardly ever wear them because it's so uncomfortable on my face. EMILY: Yeah. ANDREW: And it's just not good. So. EMILY: Yeah, that I understand and so I'm getting Joe into hippotherapy right now. Did you love that? ANDREW: Oh gosh. EMILY: Uh oh, are you gonna say no? Hippotherapy’s the horse therapy, right? ANDREW: Right. EMILY: Yeah. ANDREW: So there was a story there that I never told you guys before. One of the boys out there. He had seizures. EMILY: Seizures? ANDREW: On the horse. EMILY: Oh. ANDREW: And I freaked out so badly and I was like, I was crying. EMILY: Yeah. ANDREW: I didn't, I did not know what was going on. EMILY: It's scary. ANDREW: It is, and I felt like gosh, why am I not? Because I don't want to be in and I was sad that I didn't do it more often after that because that traumatized me for the rest of my time because no one should have. I, people shouldn’t, I don't want to feel scared of people having seizures. Thank God I didn't have seizures. EMILY: Yeah, you're very lucky. But that, that is scary. ANDREW: That made me just realize that it, it made me realize, Emily, that when I, because I don't have seizures in this diagnosis, I did all of it. I did the EEG. EMILY: Yeah. ANDREW: I did to check the brain, make sure you have no seizures. EMILY: Yeah. ANDREW: And turns out I didn't have any seizures and that's a good thing. EMILY: Yeah. ANDREW: Because I didn't want it. EMILY: Yeah. ANDREW: And I saw that guy who is doing the horses, the horse riding for hippotherapy. And I'm like, why am I here? EMILY: Yeah. ANDREW: I got, I got scared of it. And there's no, there's no reason for me to be scared of someone who is having a… EMILY: A seizure. ANDREW: Yeah, seizure. EMILY: They're hard to watch. Andrew, I understand. They're, they're scary. ANDREW: And I said to mom, I said to my mom, I don't want to come. I don't want to come back. Ever. Because it was scary. But you know, I got through it awesomely. EMILY: Yeah, good. ANDREW: You know how that happens. EMILY: Yeah. And here's a question I didn't prepare you for because in talking to your mom, you started speaking at around four or five. Because I think a lot of listeners are just going to be shocked at how well you speak and communicate. Because I remember that's what I was most shocked about when you called me the first time. Do you remember, do you even remember when you couldn't speak? Is that so long ago? ANDREW: It was a long time ago now. EMILY: Yeah. ANDREW: But I remember telling myself that, I've been stuttering for a long time. EMILY: Stuttering? Yeah. ANDREW: Yeah. And it doesn't make me feel good. I feel like something is wrong with me when I'm stuttering and I can't get it together because… EMILY: Well, I mean, I think you're doing a fantastic job. ANDREW: Thank you. EMILY: So I only hope that my Joe can speak as well as you one day. Okay. But while we're on that subject, can you tell us a little bit about what school was like when you were growing up? ANDREW: I love that question. Thank you. School was a lot of fun. I've been, I was riding a lot of Sound Transit, and that's definitely probably the favorite memory of my time. EMILY? What’s a Sound Transit? ANDREW: It's like a King County metro busses. EMILY: Oh, okay. Oh, so you'd ride the bus to school. Oh, okay. ANDREW: Right, and it was fun because it was my first time riding it. EMILY: I'm sure. ANDREW: And then also my favorite teacher was Ms. Anne. She supported me, and she supported me and she also helped me. And so, yeah, that's my growing up years for my school. EMILY: Were you just in a regular school, like the elementary school? ANDREW: I was in the APL school. Microsoft families have that school. EMILY: Gotcha. Okay, so you are 19 now. ANDREW: I'm 19 now. EMILY: How old were you when you received the Skraban-Deardorff diagnosis? ANDREW: Oh, gosh. 17. EMILY: So only two years. ANDREW: Yeah. Crazy. EMILY: Yeah, I know it is crazy. And I feel like a lot has happened over the past few months. So how did it make you feel to get a diagnosis with a name? To explain everything that you've been going through? ANDREW: Um, I'm happy mostly. And I also kept asking my parents for help. And I've been questioning it. I think I said, I said to my mom about, I said, do I have Down syndrome? Do I have autism? I kept asking. And I kept asking and asking and asking and asking and asking. And it took a long time for me to be asking it. So I just been asking. And I researched the people who had this syndrome. And I also been, like, I don't know, it's just interesting that now I can speak. And I'm the first person who ever can speak. And I think that's cool. But it’s emotional, it's been such a long, such a long period of my life, that I have all of this. EMILY: Yeah, where you didn't know. ANDREW: Things, that I didn't know what I have. EMILY: Yeah. I can imagine that's, that's tough. ANDREW: It is. EMILY: Yeah. So I'm glad, I'm glad you finally learned. ANDREW: I know. I know. I know. Everybody told me that you have to learn about this syndrome. So. EMILY: Yeah. And, you know, like even reading, because I know you read, you said you read about it and you want to learn about it. Um, you know, it's, it must have been hard to read about it because it's also like you would read about kids like seizures and being developmentally delayed. Um, and hearing about all these things. But I hope in the end it's just, you know, you're happy that you find like, you know, you know what it is. Um, and then you seem to be, you know, an example of, you know, one of the higher performing kids that has Skraban-Deardorff. So I think that's really great. ANDREW: Thank you. EMILY: Yeah. So we like, I, I, you know, I love talking to you because it just, it makes me, it makes me so happy to like hear words come out of your mouth and understand what you're, what you go through every day. ANDREW: Yeah. EMILY: Cause a lot of our kids are just, they have so much going on in their heads, but we have no idea what they're thinking and cause they can't tell us and you can tell us. So that's why I'm harassing you and making you talk to us today. ANDREW: That's okay. That's fine. Um, I just, I, I'm okay with that. EMILY: So speaking of like reading about it in this diagnosis and then really just like the potential that you have, what do you want to do after school? ANDREW: Oh, that's a good question. Probably find a job that I can fly around the world. That's been my big dream for a while. Um, I wanted to be a flight attendant, a modeling or become a teacher. Those are my three things that I want to be when I get older. EMILY: All, all very good. ANDREW: And I think I can accomplish that. EMILY: Yes. ANDREW: And I think I can do it because I'm an adult and I'm handsome and polite. EMILY: Yes. Oh yes. You can do it if you put your mind to it. ANDREW: Exactly, Emily. EMILY: I believe in you. I believe in you. ANDREW: That's what I'm talking about. That's what I'm saying. EMILY: Well, I mean, I don't know so much about the modeling, but the flight attendant and the teacher, you have to be very personable and you definitely are. So you love to talk to people. ANDREW: Right. Exactly. EMILY: So it sounds like good career choices. ANDREW: Yep. EMILY: But yeah, so, okay, so also when we're talking about like these, we call them SKDEAS kids, the Skraban-Deardorff kids. ANDREW: Yeah. EMILY: That's the name we've been giving it. Is there any advice that you have for them? ANDREW: Yes. My advice for them is work hard, your goals, and help others in your community. And also, that's all I have to say. EMILY: Yeah, no, that's good. And you mentioned helping others in the community. And I know you've sort of taken a very active role now that there's a community of Skraban-Deardorff people and, you know, other families and you've reached out and I love that you've become so active in the community to see like how can you help and you just, what did you just do on Facebook? ANDREW: I donated money to the Foundation. EMILY: Well, you didn't just donate, you raised money. ANDREW: I raised money, sorry, I raised money to the Foundation. I raised money. It was $65, used to be $280, no, $240, used to be $240 and now it's $265. EMILY: $265, yeah. That's amazing. Thank you so much for working on that. I mean, that all goes to helping and like research and we really appreciate it. ANDREW: It was my pleasure. Anything I can do with this Skraban-Deardorff syndrome, that's my life now. EMILY: Yeah. ANDREW: And when I knew that everybody liked it, I was shocked and I was so happy because this community has been like so kind to me. I never knew how kind this community was and it made me the happiest person. I can't imagine and it just makes me really happy that I have this community and my whole life has been this way. So I just been thinking about all of these amazing kids and children that need help and that's what I'm looking for. And that's what I want to be an advocate for those kind of things. EMILY: Yes, thank you. And we definitely appreciate it. ANDREW: To help others, to help kids, and help your amazing kid Mr. Joe. EMILY: Hopefully, hopefully you'll get to meet him one day. I would love him to meet you. ANDREW: I would love that. He is a cutie pie. I've been seeing his pictures on Facebook and you're getting ready for Christmas. EMILY: So are you getting ready for Christmas? ANDREW: I have a Christmas tree in my room. In my hallway. We have a Christmas tree. And so, yeah, sorry I said the wrong room. EMILY: Oh, it's fine. So you actually, so it's Halloween, your favorite holiday? ANDREW: Yes. EMILY: Okay, because one thing we should tell everybody is you hosted a dance party around Halloween for some of the Skraban-Deardorff kids. ANDREW: Yes, I did. EMILY: Because yes, because one of the things all the Skraban-Deardorff people have in common is they love music, they love to dance, you are no different, I know you love Taylor Swift. ANDREW: Yes, I love her new album, Anti-Hero. EMILY: Yes, you are big with music. So thank you for hosting the dance party. ANDREW: You're welcome guys, you're welcome. It was my, it was my pleasure. Hosting the Halloween party was so much fun and for such a long time I never knew people were interested in the Halloween party. And for me, I never knew that people were happy or excited but that's just like wow, I can't believe it, I'm shocked. So thank you guys for coming. EMILY: Thank you for hosting it. Might have to do it again next year. ANDREW: I'm going to someday. EMILY: Yeah, but you're not excited for Christmas? ANDREW: Kind of. All day long, presents, presents, presents. Kind of very boring but it's okay. EMILY: Boring? Okay. No, Andrew, can I ask you a question about your brother? How do you get along with your brother? You don't have to answer if you don't want to. ANDREW: It's fine, I'm going to anyway. EMILY: I'm asking because I have two kids and they're two years apart and I always wonder how the siblings will get along. ANDREW: We fight mostly. I remember a time when the 2016 election happened. I was fighting over, we were fighting over Donald Trump because I was supporting Hillary and he was supporting Donald Trump at the time. EMILY: Oh no. ANDREW: And I was fighting over it and I didn't agree with it. I didn't agree with his politics and so we didn't do anything. We didn't get along. Now we have darkness in the relationship. But you know what, I think by the time I'm older, I would love my brother. I would protect him. Now I'm protecting him because when things are happening in my family, that's what you do. You protect your family and you love them and you protect them and you care about them. And when we were younger, Emily, we were good friends, I was protective of one another. We were just very beautiful friends. We would Skype each other. We do all kinds of things. Now we don't anymore. That makes me sad. But it's okay. It's siblings. EMILY: I think that's somewhat typical of teenagers. I remember that with my sisters and then we got closer again when we got older. So hopefully you'll get over the election. ANDREW: I know, I hope so too. EMILY: Yeah, but that's nice. I'm sure you'll have a good relationship. ANDREW: Yeah, I really hope so because it's just awesome that... EMILY: So before we end, is there anything else you want to tell the listeners? ANDREW: Yes, I want people to be happy and be glad about themselves and be knowledgeable about their syndrome and help people. And by the way, I am so excited to be in this community and be supportive. And I can't imagine what I can feel in my heart, that is the way I'm feeling inside. So I feel really supportive in this community and really, really happy. And that's what matters to me is that you guys support me and that's probably the best day of my life because I didn't have it in this community. I've been asking questions and learning about the syndrome. And you know, it's just been like exciting in this new place, in this new things in life. And I'm so glad that we found this community and without this community, I can't imagine. So thank you, Katie. Thank you, Matt and thank you Cara for supporting us. EMILY: Oh, so that's Katie Grand, Matt Deardorff and Cara Skraban. You're right. The three of them have done great things. The foundation has done a lot of great things. And I think the family meeting that we had sort of opened up the doors for all of us to actually meet and talk. And I hope that at the next one, we're all there. I hope you get to come. ANDREW: I hope so too. And I really want to talk to those three people about what can we do to make people feel happy and supportive in the next years or maybe like 2024 before the next meeting. EMILY: Yeah. Yeah. You mean making like all the people that have Skraban-Deardorff feel happy? ANDREW: Yeah. EMILY: Yeah. ANDREW: And that is just that just makes me happy because I realize that things happen. For a reason. EMILY: I very much agree with you that things happen for a reason. I mean, I think that I have my Joe for a reason. I think I met you for a reason. So… ANDREW: I definitely feel like there's a community that really supported me for the past, I don't know, years. EMILY: Yeah. Yeah. ANDREW: And it’s been two years since I had the Skraban. And you know, I see a lot of results. I'm more happier in my life. I'm more proud of my syndrome. I post pictures of the diagnosis. I donate money to the foundation. What I am really proud of, by the way. EMILY: Oh, such a good job. ANDREW: So I feel really, really proud of myself. And I've been really, really lucky in my years of support. And I can't imagine what they will say when you guys are listening to it when I'm done with the interview. So thank you, Emily, for this interview. I really, I am so happy to be your guest. And thank you so much for being part of this interview and interviewing with me. EMILY: Andrew, I will say you just, you made a dream come true. I've only been doing this podcast for a limited time, but I've always like wanted to have you on it. Ever since, ever since seeing your first cooking video on Facebook, I've been trying, I tracked your mom down. And now I got you on. And thank you so much. It means the world to me that you're here sharing your story from your side. And everybody gets to hear it directly from you. ANDREW: It's definitely an interesting experience in my life. EMILY: Yeah, ANDREW: It’s, it's a process that I never, ever told because I am the first person who will speak. And I think that is a cool thing. I don't, I don't have any luck with it, but I am proud of my diagnosis. I feel supportive in this community. And I've been talking to a lot of my Skraban friends and trying to get their support. So it's just been really, really nice to know what they're doing and what I have, what I’m supposed to be doing in my life. So I think that when they hear it, it will be really surprised what I'm saying today. EMILY: Yeah. No, everybody's going to love to hear from you directly. So this is fantastic. ANDREW: I really think that my life is so easier now since I have the Skraban-Deardorff. Woohoo. Woohoo. Woohoo. EMILY: As parents, we find it tough before having a diagnosis. ANDREW: Right. EMILY: I never thought about how hard it would be on a kid to not have a community to join. ANDREW: The only exciting thing I'm looking forward to is definitely our next meeting. EMILY: Yeah. ANDREW: Because I have a lot of things to say about Matt Deardorff. EMILY: I know, your favorite. ANDREW: So I also have to say, so I used to have an OT. We did baking together and it was so much fun. I just enjoyed it. EMILY: Wait, you did what together? ANDREW: Baking cookies together. EMILY: Oh, baking cookies. Oh, yeah. ANDREW: It was so much fun, Emily. It was like, oh my gosh, it's so exciting and so exciting. It was just like, wow, I'm going to be excited for that many hours. EMILY: Yeah. Well, I mean, that's important because you spend so many hours in therapy, Andrew. My God, like all these kids. So I'm glad that it’s fun. ANDREW: It took a long time. EMILY: Yeah. I know. There's so many. Oh, man. Like, so many therapies. But so I'm glad they at least OT was fun with the baking. That's great. ANDREW: I know. The baking was so much fun. And also, traffic was horrible getting there and getting back. EMILY: Oh, yeah? ANDREW: It was just like, wow, why am I sitting in the car for over an hour getting back home? Gosh, it took me a long time because we have what I went to for physical therapy. PT and OT, I had to drive. My parents took me to physical therapy and I had to drive in traffic. You know, gosh, it was so long. EMILY: Yeah. Are you doing any therapies still now or are you all done? ANDREW: No, I'm all done. EMILY: Congratulations. ANDREW: We've been done for a long time now. EMILY: So there's light at the end of the tunnel. ANDREW: Exactly. There’s light at the end of the tunnel. It's just amazing that I am part of this American dream that I never ever had this American dream before because it's a beautiful thing. So what's next in life? PODCAST EXIT EMILY: Thanks for listening. I hope you found today's discussion helpful in your rare journey. If there are any other topics you want me to discuss, questions you have for some guests, or if you want to be a guest in the show yourself, please reach out to me via the email included in the show description. Please also visit skdeas.org to learn more about Skraban-Deardorff and consider making a donation to help fund research to help our kids. Talk soon.
Episode 10
Rare Disease Day 2023
PODCAST INTRODUCTION: This is Emily Beauclair and you're listening to the Smiles Included podcast navigating through life with our rare disease superheroes. Hi everyone. This episode is being published on February 28th, otherwise known as Rare Disease Day. Today is a day we speak a little bit louder than normal on behalf of those impacted by Skraban-Deardorff. There are over 300 million people impacted by rare diseases worldwide, with 72 % of them being rare genetic diseases like SKDEAS. So sometimes we feel small and alone, and this day pulls all rare families together to drive awareness of the importance of fighting for treatments and better lives. So I'm doing something a bit different on the podcast today and featuring two guests that have recorded themselves answering the question: What does rare disease mean to you? First, we will start with Andrew, who is a SKDEAS patient and we are proud to have him giving a voice to this genetic difference. ANDREW: Hi, my name is Andrew. I was diagnosed with Skraban-Deardorff Syndrome. And I feel like when I was diagnosed with Skraban, it makes me feel happy, but it also makes me feel like I'm not alone. And it makes it a lot easier for me to not be alone with this. So there's a foundation to help people and I am very glad that we came a long way and I am proud of my story and I am proud of who I am. And yeah, and when I think about it, I feel like there's a happiness happening. And for me to be part of the Skrabanian community means a lot to me. So if I can help others, it will be awesome. And I hope you guys listen to this video and think about who I am and who, what the future will look like for me. So I hope you guys are having a wonderful–When you listen to this wonderful video, you will think about my story. Thank you for caring and thank you for telling, I'm glad I'm telling my story again. It's been a journey and it's been awesome and it's been a lot of nice things going on. EMILY: Thank you, Andrew. We always love hearing from you. And next we have Kristen Worrell, who has a young daughter impacted by SKDEAS, and she beautifully tells us what rare means to her and how grateful she is for her daughter. And I've never had her on this podcast before, but she must join me in the future to tell more of her story. KRISTEN: To have a rare disease means to come to life with a fight born into you. A fight to live and a fight to grow. It also means having challenges you are not even aware of rising against you. Are you worthy of life? Should you be given a chance? Is the risk worth it? To have a rare disease often means entering the world in the most surprising and dramatic fashion. Nothing could prepare you for the world, but certainly nothing could prepare your family and medical team for you. Strap in everybody because the journey is just beginning and it is going to be a wild ride. If you or your family have yet to develop a sense of flexibility and a go at the flow attitude, training starts now. To have a rare disease means you are often poked and prodded from a young age. While no child should have to go through these many inspections, you grow stronger, resilient, get your sense of joy, fun, and hope in life is not broken in some miraculous way. You grow accustomed to being a bit of a show if you end up in the hospital. Medical staff are curious about you and let you and your family know that your case is a bit of a mystery. Despite knowing that you are a mystery, when you are sick or something seems off, they still expect you to fit into the typical symptom category. It's tough. You want to be heard and you want to be validated, but sometimes you have no voice, literally. You rely on others to not only translate your wants, needs, or problems, but to also advocate for you because sometimes you cannot by yourself. To have a rare disease means to learn to be content with yourself. Coming to terms with your abilities and your deficits, while always believing that if you just keep on pushing forward another day, perhaps a new therapy, medication, piece of equipment, or new exercise will be a key to unlock new abilities or opportunities. Hey, maybe even a miracle could happen. To have a rare disease means to have a close-knit circle of people who truly know you. Shallow relationships aren't possible, only those that are tight bonds. These people are faithful, kind, supportive, and there to cheer you on and to guide you. Trust is an absolute necessity. To have a rare disease is to understand the unpredictability and adventure of life. Nothing is guaranteed. One can chart a plan or course and in a moment it will all fall to pieces. But what hidden gems can we find among the brokenness? Perspective and insight are gains that can only be given to those who walk this road. One day could bring a great deal of heartache and pain, yet another day could bring enthusiasm and excitement you can never have expected. The stark reality of death or bodily weakness may be ever-present, but so is the pricelessness of each moment and the joy in every obstacle overcome. This life began as a miracle. This life was given a chance to grow and develop. This life is worth living. EMILY: I hope you found inspiration from those two speakers. I also took this assignment and I flipped it into writing a letter to our first neurologist. There's a proverb that's still widely taught in med school that goes something like, “When you hear hoofbeats, think horses not zebras”. And that hurts our rare community and often delays diagnoses and dismisses parents that know there is something wrong with their child. And I actually wear a zebra brooch to remind myself to never let someone dismiss me again and to find the doctors that think zebras. So here is my letter. Dear Dr. X, You may not remember me, but I think you will remember my son. We were referred to you by our pediatrician because our 18 month old son began having seizures and we knew something was wrong. He was born perfectly healthy, but the pediatrician began calling him a “floppy baby” due to his low muscle tone. We immediately started early intervention and physical therapy to help him, but he was developing at a much slower rate than his peers. He was our first child, so we weren't entirely that worried. And we believed everybody that told us he'll catch up and all kids develop at their own pace. But when he had seizures at daycare, we demanded to see a neurologist. After waiting months and months and months for an appointment, we finally pulled some strings and got in to see you. And thank God, because the waiting game when doctors refer us to a specialist, but the specialist is booked for months out, is unbearable for rare parents. You were very sweet and kind, and we immediately saw you connect with Joe. He's the happiest kid in the world, so he smiled at you with his huge smile and huge blue eyes and engaged with you. I think because of his happy demeanor, anything serious was dismissed. He was in daycare, so germs spread, kids spike fevers, and you said it was a febrile seizure and pretty common among children. While you didn't tell us that Joe would catch up, you did say that he would go at his own pace. You told us we are concerned now because a two-year-old acting like a one-year-old seems terrible at the moment, but imagine a 30-year-old acting like a 28-year-old. Nobody can tell the difference. So I let my guard down and I believed you. We continued with the PT and eventually added OT and speech. All the therapists loved Joe, but he was still developing excruciatingly slow and the seizures continued. You finally agreed to an epilepsy test and that didn't show anything significant, so we let our guard down again and continued with the early intervention, thinking our kid would suddenly start crawling and then he would walk and then talk and all would be right with the world and we would have funny stories to tell him about when he got older. But the seizures continued and the sleepless nights continued. We had emergency medication to stop prolonged seizures, but once he had three in a night and we rushed him to a hospital. One of the endless amounts of med students that kept asking us questions had our interest peaked. She said “Delayed development, low tone and seizures is usually indicative of something else”. “Don't worry,” I told her. “We are seeing a great neurologist and she said not to worry”. Finally, it was clear something was very wrong with Joe. Every time we saw you, our son barely progressed in his development and was falling further behind. You agreed to do genetic testing for epilepsy, and I remember you disagreed with the geneticist's desire to also test for Angelman syndrome, but said we may as well. I had a friend with a child with a rare disease, and she told me to push for full genome testing, but you said no. You said what countless other doctors say to parents of rare disease children. We wouldn't be doing anything different with Joe's treatment, so you don't recommend it. And I believed it. Cut to a move across the country to be closer to family that could help us support our delayed child. We switched neurologists, and she immediately agreed to a genetic testing and worked with our insurance to get it covered, and we got this diagnosis of Skraban-Deardorff. That day was hard. There were a lot of tears. He was still exactly the same child, but suddenly drastically different. Do I regret finding out a rare disease was impacting my kid? No. Not only do I not regret it, I embrace it. By finding out what was causing my child's symptoms, it gave us a new sense of hope. We found a community of other parents caring for kids and adults with Skraban-Deardorff. The rare disease community is a number one reason why you need to push for a diagnosis. As parents, we are isolated and have a fear of the unknown for our kids. And while that didn't go away with the Skraban-Deardorff diagnosis, we finally found a community of people to join and share stories and advice. Understanding the diagnosis gave us a new way to advocate for our kids in a way we couldn't do with a global delays diagnosis. Joe may not be the one to change the stats around rare disease, but at least now we are in the game and can join other rare parents to fight for funding and testing and cures for our kids. We have the Skraban-Deardorff community to talk with and cry with and advocate with. So I'm writing to share my story with you. Maybe you don't remember me, but I hope you remember the blonde-haired boy with piercing blue eyes and a huge smile. And next time you tell someone that they don't need genetic testing, please think of Joe and his worried parents and that those hoofbeats may be zebras. Thank you, Emily Beauclair, mom to the amazing Joe. Thanks for listening everybody. And I dedicate this episode to Dr. Morris Rabinowicz, who is the greatest doctor I've ever known and definitely thought zebras. PODCAST EXIT EMILY: Thanks for listening. I hope you found today's discussion helpful in your rare journey. If there are any other topics you want me to discuss, questions you have for some guests, or if you want to be a guest on the show yourself, please reach out to me via the email included in the show description. Please also visit skdeas.org to learn more about Skraban-Deardorff and consider making a donation to help fund research to help our kids. Talk soon!
Episode 11
Kristen Worrell: Navigating the uncertainty of the SKDEAS spectrum
PODCAST INTRODUCTION: This is Emily Beauclair and you're listening to the Smiles Included podcast, navigating through life with our rare disease superheroes. Hi everybody, my guest today is Kristen Worrell. She is the mom of two kids, one of which is Evelyn, who is almost three and is one of our Skraban Deardorff superheroes. This little girl is a fighter and you'll hear all about it from her mom. I really appreciate Kristen taking the time to talk to me about all that she's going through. I'd like to say that this podcast is going to give you lots of answers, but honestly, you'll see how frustrated we as parents are during the conversation because we don't know what is or is not working for our kids in terms of therapies. This is a spectrum disorder and we don't know where our kids are on the spectrum. So, we don't know what are they going to be like in a few years, or what therapies work better for them. I have a feeling a lot of people will relate to this conversation. EMILY: Thanks for joining us, Kristen. To kick it off, please tell us a little bit about yourself and your family. KRISTEN: I live in Maine with my family. I've got two children and a husband. My husband's from Virginia, so that's kind of fun. (laughs) I've got two kids. Evelyn is my Skraban Deardorff child and she is almost three and then Hugh is one. EMILY: Wow, Maine. Do you have any family that lives near you or are you out there on your own? KRISTEN: I don't want to say on my own, but a bit. We are all spread out. Everybody's about an hour or more away. So, there's not a “call when you're in a pinch” sort of family member, but I have one aunt who has been like super supportive and helpful with Lynnie, because she has a feeding tube. And so she is my backup to watch Lynnie if we ever really need a break or if something happens, like she's comfortable. That is a huge help. EMILY: Well, tell us all about Lynnie. We'd love to hear about her. KRISTEN: Okay. She was born in April, almost three years ago now. At my 20-week ultrasound, they originally thought her brain hadn't divided, which was super scary. (laughs) They detected some heart abnormalities and they said, “You need to speak with a geneticist.” Also, my cervix was really short. So, there was a risk of losing her in the womb, which was all really terrifying to hear at your 20-week ultrasound. (laughs) It was interesting because my husband had picked out the name Evelyn and kept saying it to me. That was the name that he wanted. I wasn't in love with it. But Evelyn actually means “wished for a child.” And so, when we knew that there were these struggles, I was like, okay, we are going with Evelyn because we love her and want her already. (laughs) So, we spoke with someone that day on Skype, the geneticist, and they explained that when there's two parts of the body that are usually affected, that most likely means there's going to be a syndrome involved. So, we went home and, totally scary, looking up “brain not dividing.” (laughs) It ended up being it was her corpus callosum is missing. An MRI detected that later. That was how we started and we had to go to so many appointments with her while she was still in my womb. Because of my cervix problem, she had a crazy birth. She was supposed to be born at a special hospital. And I was at nine centimeters when it was time, when my water broke, and I was ready. It was crazy. (laughs) EMILY: Lucky you didn't get birth at home. KRISTEN: I know! Well, she ended up being a C-section because she was stuck and I was bleeding too much. It was insane. (laughs) She was in the NICU for a month and a half, and right off the bat, she wasn't eating properly. So that was really rough. And she had a GI-tube placed right before she came home. But other than that, we've mostly dealt with low [muscle] tone. That's been a huge struggle. She's still not walking. She had been making huge strides, but she had an event in January and that set her back. But, she's super, super joyful. I think all our kids sound like they are, and silly, and such the best snuggler ever. Like just melts into your arms. EMILY: Yeah, I think I think what helps us all get through a lot of this is the is the happiness, and the snuggliness. They give great hugs. But that it's interesting about the corpus callosum because Ali is one of our other Skraban Deardorff kids. I think she's 14 now, but she had the same thing. I think she's only missing half. KRISTEN: I think it was partial. EMILY: Which is kind of insane to me because that's already rare. And then the fact that your daughter and Ali had the same thing. Wow. KRISTEN: Some people have told me that when they figured out that was what was going on, they're like, well, a lot of people can actually be completely missing their corpus callosum and you would never know it. Like no idea. EMILY: Really? KRISTEN: Yep. So, it's bizarre because it has a key role, but some people, their brain just makes up for that. And others, it's more obvious that it's missing. And so, some of the things I'm like, “Is this the missing corpus callosum or is this more the diagnosis?” I don't know. (laughs) EMILY: Yeah. So, you mentioned an event which I hate to ask if that's seizure related. Does Lynnie have seizures? KRISTEN: Yeah, she didn't have seizures until she was, I think, nine months old and it started really weird. It was this sudden wake up crying; her mouth was jerking. So, it was really confusing because we were like, “Is she seizing? Is she not seizing?” It presented really bizarre, but it wasn't right and she couldn't come out of it. So since then, it seems like every three months she will have one or if she's sick or she'll have a couple. But the one in January, what happened there is we're not fully clear because she's also weaning off of steroids. So, she's having some adrenal issues because of that. We don't know if she had an adrenal event that caused the seizure or the seizure caused the adrenal event, but she ended up having postictal cerebral edema, which really frustrated me because she went into the hospital and it was the first time I ever thought we were at risk of losing her. Out of all the times we've had to go, this was the time that I was like, oh my word, because then the ambulance, they had to drill an IO because they couldn't get the IV in her and they're like, we have to do this. It's just super tiny, but to get her these, I think it was like the glucose to get her sugar up, her blood pressure was as bad. So, it took her a while to wake up from that. After she'd been in the hospital a day, she was so groggy. She had so many seizure meds, rescue meds in her system and everything. But when she did, we noticed actually my husband noticed and it's like, if he notices something, you know that it's something. (laughs) He noticed that her left side wasn't working at all and her face was kind of drooped on that side. So immediately we were freaking out thinking it was a stroke and her neurologist came in and he said, “Well, sometimes we see something called Todd's paralysis, which can happen for a few days after a seizure, usually hours, but sometimes a few days where there's some sort of paralysis.” And we kept being like, “I don't know. This just looks like what we know for stroke.” We're terrified; we’re feeling really stressed out. So, we keep saying, “Can we have an MRI or can we have a CAT scan? Can we have an MRI? Can we have a CAT scan?” They're like, “No, let's just give this some time. We've never seen Todd's paralysis, but it looks like Todd's paralysis. It's a textbook thing.” And then days later, she wasn't getting better and she was acting really upset and they looked in her ears like, “Maybe she has some ear infection.” And they're like, “But let's just do a CT anyway.” (laughs) And when they did the CT, they saw the whole right side of her brain, which affects the left side, was not colored correctly at all. So then they finally did the MRI and it showed that she had the postictal cerebral edema - swelling. And normally they said they've never seen it in person, but what they know of it is if it happens, it's super, super, super rare. (laughs) And it's usually in one like location, but it was her whole right side of the brain. As the swelling has gone down, we've seen improvements with the left side, but we'll get an MRI next month and that should show if there was any actual damage that she could come back from. Could take a year or two, but, it'll kind of give us a better idea of what to expect. EMILY: Wow. That's beyond scary. And then the ongoing effects of that and the unknown around that must be terrible as well. KRISTEN: Yeah. EMILY: Man, I'm so sorry. Augh! KRISTEN: She's wild. EMILY: She's got a lot going on. KRISTEN: She is a wild little child. EMILY: Yeah, for an almost three-year-old. KRISTEN: Yes. EMILY: She's seen a lot. That's crazy. Augh, and you had mentioned that you spoke to a geneticist while you were pregnant. Did you get the diagnosis while you were pregnant? KRISTEN: No, but they kind of put it on our radar that they would recommend it. And I can just say after looking up the brain not dividing, being all of these unknown scary things, which was really stressful. And I actually also remember during that time before we got the MRI, we watched Wonder. Have you ever seen Wonder? Augh! Oh, my goodness. We cried! But I think we knew as much as we can have to help us understand what's going to be the reality and be able to just grieve with whatever it is, even though we know there's a spectrum, whatever we can have for answers, it would help us to just grieve and come to terms with things for the future. EMILY: I get it. And I actually heard that there is a mom that is pregnant that already knows that her child has Skraban Deardorff. KRISTEN: Wow. So, does that come up on the amnio? EMILY: No. She did genetic testing already. I don't know any details. I don't know what made her do that so early, but she already knows, which is crazy. KRISTEN: Wow. EMILY: But you mentioned it's a spectrum. I don't know what she's doing with this information because there are adults that nobody knew that they had Skraban Deardorff until they needed to get tested because they had a child that was delayed. And then there's people like us who have children that are not meeting their milestones. KRISTEN: I just wonder why? What is it? Because it doesn't seem like anybody's… When people share the reports, nothing is like, this is obviously why it's worse, you know? What is it? EMILY: I know. And some kids have other things going on. You have the corpus callosum and some don't and they're exactly the same. And then, my son just has Skraban Deardorff as far as we know, but we don't even know where he is on the spectrum. They said that we have to wait for him to start talking before we will figure that out. So, we're anxiously waiting for that to happen. When did you find out that she had Skraban Deardorff? KRISTEN: I think they did the testing pretty much within her first couple of weeks of life and we found out in that November. I think she was about six months old, I'm guessing. So, we knew early compared to a lot of people. EMILY: Did it make a difference to know early? You mentioned it early: With the spectrum, you don't really know what to expect, but were you glad that you…? KRISTEN: Yeah. I think for one, the Facebook group has been really helpful because you can ask a direct question that people can directly answer from their actual experience. So that has been hugely helpful. In some other ways, though, I feel like it's given more fears, like more specific fears about, I'm trying to think, talking or living on their own. So, in some ways, you're looking at a clearer picture, which is good, but also hard in some ways. And then sometimes you see others who it seems like they're doing way better and you feel like, “Oh, why isn’t that me? Am I not working hard enough?” And I find having a diagnosis is hard in a way. I thought it would be easier to explain to people what she has wrong with her. And I still find myself, like other than saying global developmental delay, that's a lot of words for people to be like, what does that mean? And it's like, “This kid is here, but then there's another kid who's here, and Lynnie seems to be kind of here.” It's still confusing and the name alone people struggle with. (laughs) Every time we go to the hospital, they're like, she's got Skra…? Skra…? Skra…? EMILY: Yeah, exactly. I know. And I was like, only 150 people have it, so it doesn't even matter if I explain to you what it is. (laughs) KRISTEN: Yes. EMILY: But, you know, although I think we are finding that there's more than 150 people now, which I don't know if that's good or bad. But, you just made a comment, it's like sort of asking yourself, are you working hard enough with your daughter? And I think that's also something that we struggle with a lot. And I think I'm in the phase now where I am worried that I'm not doing enough. (laughs) But I don't want to overload him because I feel like I over-therapied my son when he was younger. So, I'm trying not to do that. But now I'm like, am I missing out? Am I? Should I be doing something else? And would that help? What kind of therapies are you doing right now with Lynnie? KRISTEN: Right now we have OT (occupational therapy), speech therapy and physical therapy. And I love physical therapy. I think that has been like, I get clear homework, I get clear exercises, and over time I'm seeing clear results, which I really like. But occupational, I struggle with. I think now I'm finding it more helpful, but the sensory pieces, it's like you have to be constantly doing either the brushing or the squeezing or just all those things. And it's challenging because you're like, “I didn't do that when she did this,” you know. And there's, it's always in my head. And for Lynnie, same thing with speech, actually. We stopped speech for about nine months because I got to a place where I felt comfortable just saying, “No,” because I was not seeing any improvement. And I didn't think it was helping. I didn't have another place, but I felt I really just was at a point of, “I think we are wasting our time with this.” It was because of COVID, we couldn't do in-person feeding therapy, which is what I really, really wanted and needed help with. And OT and speech weren't really doing a whole lot to help me with that, just kind of vague ideas, but I don't think they were really, really specialized in kids who literally put nothing in their mouth and literally will not eat from birth. And that exasperated me. And I'm really glad that I quit speech for the nine months. And now we have a new speech therapist. And I feel comfortable that, if we're not making progress, I think it will be because Lynnie isn't there yet, rather than because this therapist isn't being helpful, or isn't a good fit. EMILY: There's definitely a large chunk of time where I wonder if any of the speech therapy did anything at all. I remember going and like watching what Joe was doing, and I'm like, “This is a waste of time.” I mean, he's having fun, so I will let him, it was very play-based, but I was like, this isn't doing anything. (laughs) KRISTEN: Yeah. Sometimes it felt so like slapped together in my experience. It didn't feel like we had a clear goal and clear exercises or something. I don't know. But like I said, sometimes, was it just, was it me? Because I was frustrated with the lack of progress. But now I feel comfortable that I had made the right decision. EMILY: Yeah. Yeah. I mean, we didn't have the diagnosis yet when we were starting our whole speech therapy and PT and OT journey. So a lot of the times I just kept thinking that it's kind of going to snap out of this. And he's all of a sudden going to start talking and walking and we'll be happy that we did all this. But this is part of me is like, this is pointless because he's going to start talking. He's just going to be late. And the doctors were telling us this, too. So, I feel guilty now because I didn't do as much work at home that I probably should have done because I just kept thinking that he's going to catch up and he's just globally delayed and, you know, he’ll catch up. KRISTEN: That is so funny because I struggle because you're saying something that I hear other people say to me sometimes, and I know they mean it well, but it's like when you hear, “Oh, they'll get there, they'll get there.” And it's just like, it's so hard to hear that. So I think it's funny hearing your experience of, you were, which was before diagnosis, but you were telling yourself that. And like for me, when I hear that, I'm like, “You don't understand.” EMILY: So now I hate hearing that, so I get it. Especially when I have an almost five-year-old, and people see him and like, “What's your name?” And I'm like, “He's Joe.” And they're talking to him and they're asking him questions. And half the time I just let them figure out for themselves that he is not gonna answer them. And like, oh, “I had a late talker, too.” And I was like, yeah, that's my problem. (laughs) I don't know. And if they're rude, then I'll make them feel really guilty with how they talk to Joe. Most of the time people are just trying to be nice and think of what to say. But it's just, I don't know. I feel like now, I still think Joe is gonna speak and we are like heavily pushing on this speech therapy now. But I don't know how much of it was worth it when he was younger. And even now, I don't even know what's worth it. And so sometimes I even feel like, should I be doing other things? And I don't know what those other things are and that's where I struggle. KRISTEN: I feel like the life skills thing, I don't know. Part of me, that's something I think about a lot. And it seems like that's area where a lot of the kids do make progress is learning different life skills. And, this year, I am determined to get Lynnie out more and outside. Before, she used to either cry, you know, and not being able to walk for so long, she was like on her back, you know? So, it's not comfortable to be outside. But now, I want to get her outside and get her just exposed to different life things. And I hate to say it, but realistically how much of the academic stuff is going to be not worthwhile, but what's gonna grow her as a person where she is? And maybe hopefully we can one day make progress on the life skills and that's something she could find joy in, helping in the garden or, I don't know, I'm at that point where that's what I'm thinking. EMILY: Yeah, I get it. Cause I think, what are they gonna be when they grow up? (laughs) And how can you help them achieve that? And so, yeah, it's all those life skills and I get it. And that's why I do highly recommend horse therapy if you're able to find that one. KRISTEN: I want to. Augh. I was on a wait list forever and then we moved. And I'm, yeah, I've seen so many good things about that. I really, I would love to do that. EMILY: I mean, and that's another one. I don't know if it's doing anything, honestly, but Joe loves it so much. And he does talk a lot more while he's there and he directs the horse. And so he does things that… it's definitely helpful. I just don't know how much, and it is good for his muscle tone too. Cause he's still extremely low tone, which, I'm hoping eventually we can end PT. I know you said, you like it. I'm like, “This poor kid.” It's so much work and he hates it. KRISTEN: I hope there's an end in sight too, though. Anything, it's like, before this actually, I counted up, Lynnie has three therapists and nine doctors. So anything we can knock off that list would be nice. (laughs) EMILY: Exactly. So this next question might help other parents understand where Lynnie is on the spectrum. Can you walk us through what a day is like with Lynnie? KRISTEN: Yeah, so we get up around six or seven. The big daily piece of our life is her G-tube feedings. And she actually has Crohn's disease, which is a new diagnosis. And she needs about six to eight feeds a day. (laughs) So right off the bat, we're doing a feeding, but I sometimes have theories that the low tone affects her puking, because she pukes almost every day. EMILY: Oh, I'm sure it does. KRISTEN: Usually the first thing, or at the end of the day, those are the hot times of puking. She also has meds three times a day. So, we get up and I change diapers and then I give her a feed and give her meds. And if we have a puke, take care of that. And then I have to feed my son. And then I usually take care of a lot of phone call stuff for Lynnie. I don't know if you feel like you have a ton of that, but I have so much. There's always an appointment that needs to be rescheduled, scheduled, information taken down, prescription to be tracked down, insurance, always. So, the morning seems to be the best time where I can get that done before anybody's fussy (my son). And then it's either like a bath time, then if it's an appointment day, we have about two appointments a week. And appointments are about an hour away. So that takes a big chunk and then I got to prep her food and all of that gear for that. Most of the time though, right now it's downtime and therapy, I struggle, to be honest, always fitting it in because I'm trying to fit in housework and wrangling children. So, every two hours I have to give her a feed, that's kind of keeps the structure of our day and bedtime and snuggle time in the evening. But I'm actually trying to get a nurse to see if we could get some help with making sure she's getting those therapy exercises in. EMILY: And does Lynnie sleep through the night? KRISTEN: She does! Yeah! EMILY: You've got that. (laughs) That's like the one thing you've said so far that has been good. KRISTEN: Yes, yeah, she does. She is a really good sleeper. EMILY: Okay, well that's a blessing. KRISTEN: Yes, I know, I'm like, okay, thank you, Lord. That is the one thing we don't struggle with. I don't do good with little sleep. EMILY: Oh God, me neither. But that's life with these children. So, you stay home with Lynnie most of the time then, right? KRISTEN: Yes, yeah, yeah. It seems like she, the medical events, because I started working in the fall to get back into working. And then she had that event in January and it was like, “How do I do this?” Because at the time my husband was working nights and so he could pick up where I left off and we were switching off and honestly it was miserable. (laughs) So I'm doing this and to see if we can get a nurse would be really, really helpful to feel like both my kids are getting their attention and their needs met. EMILY: That's probably my biggest guilt is that, because I do work and I feel like that definitely impacts how much time I spend with Joe and some of his therapies. But it's a little bit easier now that he's in a preschool that gives him a lot of his therapies, which is awesome. Like I could not love his preschool more. So that helps and he's there most of the day, but we just had a bad nanny experience and it's like, “How do I trust anybody with my kid?” And just makes me want to quit my job like every day. KRISTEN: Yeah, yeah. And I've heard a lot about ABA and I think you've talked about it before and there was a place, but it was like, you either have to have your child there half a day or full days every single day. And I felt more like I wanted to try it and my husband is just like, “No, like I'm not comfortable - Lynnie can't communicate.” So I still struggle with that torn piece of, like you're saying, that your son's preschool offers them therapies. I'm like, oh, that would be… the exposure to other kids and the therapies would be wonderful. But on the other hand, I know what he's saying and I agree with it, but I also want her to blossom as much as possible. So, it's like, augh! EMILY: I know. And I will say that we actually, we do find that Joe benefits from copying other kids, which on my hand makes me really nervous when he's getting older (laughs), but now the more he sees other kids doing things, it helps him figure it out on his own as well, like, that's what I should be doing or that's how I do that skill. So, but he's older. So, there's that. He's about to be five. And I would say over the past six months, we've noticed a big difference in him with how much he copies what he sees, and just being social with other kids. But we're mentioning ABA. I cannot get him into ABA. And you're like talking about the time you spend on the phone, like the amount of time, the amount of calls I made to insurance and people that were willing to give him ABA services. It's $150 an hour and I cannot get insurance to cover it. So, we are not doing it. KRISTEN: The medical fights, don't get me started. (laughs) EMILY: Yeah. KRISTEN: Like just the different things that you feel like you have to fight for your kid to try to get things. Augh, oh man. I could go on a tangent. EMILY: And I definitely get what your husband is saying also. Lynnie doesn't talk, and that's having her do a program where you don't know what's going on every day. I mean, I've called the bus company because I wanted my son to take the bus like other kids. And that's why I'm trying to have him do that. And it's a special bus. But, there was one time that it was 20 minutes late and I was making them go and find the video and make sure that nothing happened to my son. Because he seemed a little cranky when I got up the bus. And “It was probably because he fell asleep and we woke him.” But I'm like, “I don't know that. You disappeared for 20 minutes with my kid!” Yep. And I totally freaked out. (laughs) KRISTEN: I would too. EMILY: Yeah. You can't tell me anything. And I think that not speaking is the hardest part that I have with this diagnosis. KRISTEN: Yeah. I would love to hear I love you. She can say mama, but like that is like on my heart all the time. If I could just hear her once say, I love you. I know she loves us in every action. But to hear that, I would be in a puddle of tears of joy. (laughs) EMILY: Yeah. And wait ‘til your one-year-old starts talking and saying that. And it's very bitter sweet. (laughs) KRISTEN: Yeah, it is. It's like, you know, he's toddling around and I'm like, well, he should have been at this point, you know, there's so many weird feelings in that way. EMILY: So Hugh, right? KRISTEN: Yes. EMILY: That's such a cute name. (laughs) KRISTEN: We call him Huey. EMILY: Oh, Huey. That's so cute. KRISTEN: Little Huey, Huey, Huey. EMILY: So, I guess he's too young really to know right now that his sister is a little bit different than other siblings. KRISTEN: Yeah, but we talked about a lot before we decided if we would have another kid, because we both wanted a really big family. (laughs) And I am just so grateful at the end of the day. It's funny, though, because I had thoughts about, oh, “I want Lynnie to be at this point.” And now I'm like, “Wow, anything could happen to just set her back.” You can't figure out everything. You're saying your son copies other kids. I feel like even just from her brother, she has picked up things. I think she puts things to her mouth more. She's really interested more in watching people eat. And I love to see them being just normal and rough house and pull each other's hair and like share things. Because most of the time when Lynnie's with other kids, she can't keep up with them physically and she can't speak to tell them anything. And so she's kind of stuck by herself and it's not anybody's fault. Kids that little don't know how to engage with a kid like that. So that's always hard. But she and Hugh - just total normalcy. And, I've had a lot of times where he's had to go with my aunt or with somebody because Lynnie had a medical event and he's been just “go with the flow” like, man, he's been amazing in that way. Because if he was a clingy, don't-leave-mommy kid like, oh, that would be hard. So far, things are looking good. I'm sure they'll change. EMILY: Yeah, they always do. I just wish they could always be together, protecting each other because Joe is going to kindergarten next year by himself. And that's what I am very afraid of and scared of at the moment. Do you think Lynnie's going to follow the normal education path? KRISTEN: No, we had planned on homeschooling. I have reached out to several places and I'm struggling to get good resources on how in the world do you do this. But some people I know are more into atypical homeschooling. So, there is the academic piece, but there's also a lot of hands-on life skills. And I wonder if Lynnie would do really well in that way. But then there's that other part where I know if she was to go to a public or, I don't know about a private school, but a public school, she would have that IEP. And that would be helpful, but sometimes I want to ask the parents of the older children: “How much does your child actually understand?” If they're going to be spending, how many years is it like 12 years or more of schooling? How much of that time do you think was, I don't want to say wasted, but, how do we make the best of the time that we have while she's a child to soak up things that will stay with her? So, I'm curious. What have the children retained who are older, who did go to public school? EMILY: That's a really good question. We get reports of what happened during the day in the class and I know Joe didn't participate in any of that stuff. But I do get a separate weekly on just Joe, and I'm hoping that he's learning from some of it and retaining some of those skills, but also it's kindergarten. It's not like they do too much. When they move up, I'm hoping he can write and I'm hoping that he can learn letters and stuff like that, but right now they're doing that in the class and I know he doesn't have any concept of what any of that means. It probably is a total waste of time for the moment, but hopefully he's absorbing some things. KRISTEN: I do feel overwhelmed because I do very well with a clear-cut plan and a curriculum. I did well in school, you have goals, you make them. How do you tailor that for a child like our kids? How do you make realistic goals? If I do follow through with homeschooling, it's going to be so out of my comfort zone because I love the clarity of a curriculum that is here with questions, answers, tests, you know. EMILY: More power to you for even thinking about it because I know I could not do that. (laughs) KRISTEN: We'll see. I'll have to give you an update in a couple of years. EMILY: Yeah, I would probably be pulling my hair out after the first hour of homeschool. I don't have the patience for that. I know that about myself. (laughs) KRISTEN: It's good to know. EMILY: I hope you could do it cause I'm sure, and even again, the whole guilt thing, I'm just jealous of the amount of time that you would spend with Lynnie having her home and homeschooled, so that's also nice as well. KRISTEN: Yeah, yeah. EMILY: And speaking of things that I know I cannot do, I've seen photos of Lynnie wearing glasses and thank God, Joe does not have to wear glasses because I have to ask, how do you get Lynnie to keep them on? KRISTEN: She doesn't anymore. When we started the glasses, she did amazing for months on months on months. I don't know if it was a full year. And then it was like, boop, I'm not wearing them anymore. And I cannot get those things to stay back on her noggin. (laughs) And I actually need to bring them with me to OT, but I also don't know if what happened in January changed her eyesight, so we need to try to get another appointment in, but it has been a struggle since then and I don't know why. It's very frustrating because it was going so well. And every time I see family, they're like, “Where's her glasses? Where's her glasses?” We can't bring them with us because they're going to be thrown off somewhere. Who knows where? Stomped on. (laughs) So right now we're not having success. EMILY: Yeah, okay, because my son throws everything. We did the eye test and then we had hearing tests and I was like, one of the reasons I was so afraid that he might fail his hearing test wasn't necessarily that he would have to have hearing aids or that he wouldn't be able to hear, but I was like, how would I keep those on his head? Luckily he passed. He failed his hearing test multiple times because he doesn't have the attention span or cognitive ability to understand that when they're putting Mickey and making noises on one side that he should look at that side. It's just stuff like that where it's a frustrating experience for your kids. And they're like, “Doesn't your kid understand?” I'm like, “Ask him, he'll tell you. (laughs) Why don't you ask him to look at the Mickey when it goes off and see if you have better luck than I do?” I'm getting worse, I used to be the apologetic mom and now I am not. KRISTEN: No, I feel like many people would say that I was shy and I feel so much more confident in myself and in using my voice than ever. This whole diagnosis has changed me as a person. Sometimes I have to be like you. You're like, okay, “Am I going too much over the other side?” But yeah, I'm so with you on that. EMILY: But then I'm always like, I don't want them to take it out on Joe, so I still have to be really nice. KRISTEN: How do you handle other people's opinions? About everything, you know, with your kid. I feel like I struggle to take things with grace because there's so many people who have ideas and you feel like: “I have tried them all.” And I don't know what to say anymore or I feel very impatient now when it comes to questions or “Wouldn't this work better?” The eating piece drives me insane. There's nothing I can do to make her eat. I do my best. “I know you didn't see me try to give her applesauce at this meal,” and you're just feeling guilt. EMILY: Oh, so you mean people are saying, “Maybe she doesn't like what you're feeding her. You should try and give her this.” KRISTEN: And it's all well intentioned, but I find that to be really challenging. Just because it's always going to be there and it's tiring. And so I'm not patient about hearing those things. (laughs) EMILY: I struggle with the same thing. Because I'm just trying to get out of the conversation in general. And it never goes away. I mean, you're going to lose your patience one day because the audacity that some people have to think that they know something you don't about your child when you deal with them 24/7. It's always amazing to me the nerve that some people have. Even with speech, for instance, we get a lot of people that are trying to give us advice about what to do. And I was in a whole thing with Joe's speech therapist because we had a path that we wanted to follow. And she wanted us to do something different. And I'm like, “We're on this path. We want him to be able to use this book to communicate. And that's where we are. And that's where we're going.” And they wanted to try other things. And a lot of times I felt ganged up on by the school and speech therapist because they're like, “Well, we've done this this whole time.” And then I'm like, then I would sit in there second guessing myself. And so I would just have to write down: this is why I made this decision. In the IEP meetings with my husband, I'd be like, “Make sure that I say these things.” And he would never say a single thing during the IEP when we're all fighting. But he would point to my notes. Or he's like, “Don't forget this.” And so I think that that's helpful. And lately I've been doing the IEP meetings. And they've gone a lot better because I'm just being like, “This is my path. This is where we're going.” And I know people aren't comfortable with it. But this is what we've decided. But I do feel guilt about, “Am I right?” But there's so many opinions from other people about what might work and what might not. And so we just have to trust what we think might work. And I'm hoping I don't feel guilty about it later. KRISTEN: I know. That's the struggle. It's always the “What if?” Like, “What if I had tried that?” (laughs) Or, “What if we went with this different plan?” EMILY: Yeah. Some people do gene therapy. And I don't know. Nobody's even told me to do that! I'm like, “Should I be doing that? And is my son missing out?” And so I'm going to talk to my geneticists again next time we meet with them. Because we have another. We have the Skraban Deardorff folks, and then we have the geneticists that's near us. “Should we think about this?” I don't know! They're going to say no. They always say no to all these things. So it's just whether or not I want to push it. KRISTEN: Yes. Yeah. Because I think our neuro just said basically, which I don't know if we're going to stick with him. He just kind of made it sound like all the out-there ideas are out-there for a reason. (laughs) Yeah. And I don't really appreciate that so much. Because I have curiosity about different ideas and different methods. But I'm also not anti-pills or anti-the traditional things either. But I'm also open to trying different things. And I wish there was a bit more. I wish our doctors were a bit more scientific. And “Let's experiment. Let's try this,” rather than “Here's our textbook. You should fit in it this way. And this should work and create this.” That really stresses me out, I feel. So much that they don't have a curiosity to solve things or to take the time to figure things out. I don't know. It just sometimes it feels like you need to fit into the textbook. And if you don't, oh well. (laughs) EMILY: Yeah. I'm frustrated for our kids specifically that we don't have a playbook of what we should do. Everyone does speech, OT, PT, maybe, ABA. And that's the advice that we give each other. One of the dads at the family conference is telling me they do magnetic therapy. And it's like stuff I've never read. I don't even know who would have told me to try this. So, he was asking if we did it. I was like, “I don't even know what that is!” KRISTEN: I've never heard of that. EMILY: Yeah. I still don't really know what it is. But I'm not against it because I've never heard of it. I just don't know who would tell me to try it. I don't know where to go to get it. Even when there's something simple that I want, I can't find it for my kid. Yoga, for instance, I really wanted to have Joe try yoga. And I couldn't find a class that would work for his needs. KRISTEN: Same with musical instruments. I would love that to try it because there's so many seem to be interested. Is there somebody who would do a class tailored with our kids? Because that would be amazing if they could learn to play instruments and such. Like, wow. EMILY: Yeah. And I'm saying I would love to add these things when I don't even know how I would schedule anything else and figure out how to get there. KRISTEN: And that's what drives me crazy because I don't know if you're like this, but I used to be the person who had my checklist and I could get things done up with my day and that was completed. And Lynnie's appointments and her G-tube feeds, I never had that sense of completion. There's always another appointment and there's always another feed that needs to be done. How do I change that part of my personality that doesn't feel stressed out just because I know I have something else to do? It stresses me out when I know I have something else to do, and it shouldn't. It's just part of my life, you know? I don't know how other people do that with appointments, like just don't get stressed out. My husband doesn't get stressed out ever, but that's me. EMILY: That’s a theme among many of us moms. I worry sometimes, if I was not here one day, would Joe make it to like any appointments? Would he be registered for kindergarten? (laughs) I can't sleep at night because I need to call and make this appointment and or I'm waiting to get this appointment. I need to call and see if I can get off the wait list and it's like, “Did I do this enough for Joe?” And I can't sleep and he's like, “I don't understand it. You're fine - done enough.” KRISTEN: I know. I don't understand how some men don't feel the stress or the pressure to-do things. I don't get it. EMILY: I have to live forever. KRISTEN: Yep. Yeah, seriously. Lynnie's medications or her feeding schedule gets switched around a lot. I sometimes try to update paperwork of her food schedule, but it changes a lot. And I'm like, man, I don't know! What if I was sick in the hospital in a coma? (laughs) EMILY: Yeah, I know. “Poor child’s going to starve!” Yeah, we're lucky that we don't have a feeding problem with Joe. Because the G tube, I've heard horror stories and changing them. I listened to so many medical podcasts that freaked me out constantly about other rare parents. And that's another thing that I was hearing about. I'm sorry that you and Lynnie both have to go through that on a not even daily basis, multiple times a day. KRISTEN: I would never have been able to handle medical things at all. You don't understand. It's a miracle that I can do them now, you know. And it's funny because I see my son; he looks at her button and he’s intrigued or he's chewing on her G tube supplies. I'm like, okay, he won't have this problem. He's going to be cool with all medical things. (laughs) EMILY: When he eventually has play dates and see other kids like, “Why doesn't your sister have a tube coming out of her?” (laughs) KRISTEN: Yes. Yes. EMILY: So not normal! KRISTEN: I can so see that. EMILY: I know. I can't wait to see what my two boys are going to be like when they're a little bit older because they're just so cute together. And my younger one is protective of my older one. KRISTEN: It is weird, isn't it? Because it feels a bit like the roles are reversed, but it's okay. They seem to be okay with that dynamic. EMILY: Eventually, I'm sure we're going to have a lot of questions from Ben, who's my younger one. But right now, he just he just accepts everything. I've actually never heard my younger son say, “Joe can't talk. Joe doesn't talk.” It just doesn't register to him because they have their own communication. KRISTEN: Right. EMILY: There's a lot of pointing and laughing and hitting each other and stuff, but they communicate just fine. KRISTEN: Well, I love that. I think there's one or two sisters on the Facebook group, and it seems like they check in on their brother, have a good relationship and caring relationship, which is wonderful to see. I hope that as a mom, I can balance both of their needs well and not everything isn't Lynnie-focused. I think that's something I worry about with Hugh. I don't want him to feel like life revolves around Lynnie all the time. And, I'm way more patient with Lynnie. I can tell that and things like that. And I just try to keep those bad things kind of self-aware of that because I'm afraid of ever making him feel like he's not as important or just because he's rowdy and can understand “no” clearly. Whereas, Lynnie, I don’t know. He gets a swifter stern voice, things like that. EMILY: I've actually noticed a lot recently when we go places, even family events, that the conversation goes to Joe a lot. I've noticed it and now I'm trying to ask questions, like we're hanging out with my nephews, like, “How's Owen doing? How's karate going?” And because Joe's there and people are noticing that he's not acting the way the other kids are. So it just it keeps going back to, “Well, how's Joe doing?” And they're trying to make me feel better. Like, “He's doing so well. He's doing this.” We don't need to talk about him all the time. KRISTEN: Yeah. EMILY: And I don't want to talk about him in front of him, where it makes him feel like he's different. That also makes me uncomfortable. I'm trying to actively be like he's not the center of attention everywhere. He does not need to be the center of attention. But it just always turns out that way. KRISTEN: Yeah. EMILY: And so I'm hoping that Ben doesn't realize that or it's not impacting him. KRISTEN: It's funny because my husband is very aware of trying to be, you know, I'm more engaged with people and talk with people about Lynnie's diagnosis and be all connected on Facebook. (laughs) And he's more like, “What about her privacy?” Even when people are asking how they're doing, she deserves some privacy. And when she's older, if she understands more, she might not appreciate that you blasted all this stuff either on Facebook or whatever. So many things to sort out with children. (music) EMILY: Thanks for listening. I hope you found today's discussion helpful in your rare journey. If there are any other topics you want me to discuss, questions you have for some guests, or if you want to be a guest in the show yourself, please reach out to me via the email included in the show description. Please also visit skdeas.org to learn more about Skraban Deardorff and consider making a donation to help fund research to help our kids. Talk soon.
Episode 12
Allison Pyer: Unraveling the Complexities of the Neurotypical-Neurodiverse Connection
PODCAST INTRODUCTION: This is Emily Beauclair, and you're listening to the Smiles Included podcast: Navigating Through Life with our Rare Disease Superheroes. EMILY: In today's podcast, I have the pleasure of interviewing my twin sister, Allison Pyer, whom I'm very close to. Both of us have two children each, and her youngest son and my SKDEAS son were born within two weeks of each other. As you can imagine, we had hoped that they would grow up together, reach their developmental milestones at the same time, and become the best of friends. However, life didn't unfold exactly as we had envisioned it, and we've never had an opportunity to discuss how our children feel about each other until now. In this podcast, Ally and I will have an honest and open conversation about our kids and their relationship, and we hope to share some insights and experiences that might resonate with other parents who are navigating similar situations. Thank you for tuning in, and I hope you enjoy the podcast. So first of all, thank you, thank you for agreeing to do this, and I'm going to kick it off the way that I always do. Please tell us a little bit about yourself and your family. ALLISON: I am married. I've been married about, going on eight years now to my husband, Matt, and we have two kids. We have two boys, Jack, who just turned seven, and Owen, who just turned five. And we also have a dog, Daisy, and some fish as well. EMILY: You have a lot of fish. ALLISON: Yeah, we can never forget the fish - they always remind me of that. EMILY: You have a lot of fish that somehow have managed to never die. ALLISON: All carnival fish, all four of them. EMILY: Yeah. Okay, so the rules for today are that we can ask each other anything. ALLISON: Okay. EMILY: And the other person has to answer and not hold it against anybody, but we also have to remember that at some point, Owen or Jack or Joe or Ben or anyone in the family might listen to this. And so we don't really want to put words in their mouths or say anything that we think they might be upset to hear later on, which I always struggle with Joe. ALLISON: Okay, I can follow those rules. EMILY: Yeah, so now, so I'm going to ask you my first one that I've always wanted to ask. And I don't think I've ever asked you this, but you had Jack, who was two when you gave birth to Owen. And two weeks later, I gave birth to Joe, who's my SKDEAS kid. Did you know before I did that Joe was delayed and there was something going on with him? ALLISON: I would say yes, but I also think you knew. Just people were telling you otherwise. So I think in your gut, you did know before. But people were trying to, like doctors and others were telling you, “no, he's just delayed; he's just delayed.” And so you were trusting those professionals - where I knew. And so I think it was hard because you were long distance at the time. So, I didn't see Joe very often, but when we did see him, and I'd compare him to Owen, you know - they're the same age. And I would see things weren't progressing the way that they should. And we knew, okay, maybe it's low tone. Maybe he's slightly delayed. Maybe he'll catch up. But when I went out there, when I went out to visit you in California, and he was two years old, I knew there's something wrong. This is not just delayed. That there's something more to it. And that's when I spoke to our mom and said something like the doctors are wrong. We've got to do more. They're not doing enough. But it was hard. I didn't know how to really approach it with you, because you were being told otherwise from other people. EMILY: And I actually was just recently looking at photos from that trip that I think that you're talking about. And Owen and Joe were in that little ball pit that we had, and Owen is sitting up and throwing balls, and Joe couldn't even sit up. He was lying down. ALLISON: Exactly. And it was heartbreaking; it really was to see him, because I knew that it wasn't just like he's delayed. And there's always the hope like, okay, he'll catch up, he'll catch up. But I knew there was something more to it because Owen was not that advanced. There was something wrong. EMILY: Yeah. And I think Joe was having seizures already by that point. That's also what people were blaming everything on. ALLISON: Just based on that, are you upset that I didn't push it more? EMILY: No. Well, because it is true what people say that I wouldn't have done anything different, because I already had him in all the therapies that I could have him in. Because we wouldn't have been able to do the genetic testing because nobody was letting us do it at that time anyway. So we wouldn't have known that something specific was causing all of his global delays. But I guess I appreciate you not calling it out like I was a bad mom or anything for not trying to find out more about or pushing more because he was so delayed. ALLISON: No, it was more; it was just so frustrating that people were giving you that message when, to me, at one point it just seemed obvious. EMILY: Yeah. So, Owen and Joe are now both five, and you have Jack who’s seven, and I have Ben that just turned three - who I'll say is a three-nager that I did not have to deal with Joe. So, now that they're older, and they see each other a lot. So I guess we could set that up as well, because we live 10 minutes away from each other now. And honestly, that was because right around that two-year mark where we got one of the birth-to-three reports that really proved that Joe was not going to catch up, like everybody used to say. It was just showing he kept falling further and further behind, and I freaked out and probably moved back to Connecticut to be closer to you in record pace. ALLISON: Yeah, I can't believe how fast you got here. EMILY: And honestly, it was because I freaked out, and I all I could think about was that I wanted Joe to be closer to Owen and Jack to go through the school system with them so that he would have help and support. But now when I think about that, I was like; that's so unfair. I can't put that pressure on your kids. ALLISON: See, I don't agree with that. We're family. So I don't think it's unfair pressure to be putting on my boys. You're not putting pressure on them. You moved closer so we could all be together. We could provide extra support. And hopefully, yeah, the boys will be together in school. I think now, unfortunately, even though you're in the same town, they won't be in the same elementary school, but they will be together, whether it's sports or other things. And later on in school, they'll be together. And they're family; they're cousins. They should be looking out for each other. And so I don't think it's an unreasonable request, because regardless of where Joe is, because they should be looking out for Ben too. You know, that's what family does. EMILY: Yeah. Yeah. But sometimes I feel like I'm expecting too much of your kids. ALLISON: I don't think you are. And you know, I think we recently had a family vacation together as we went down to our sister's wedding. And all four boys were together for most of the trip. And you know, Jack, my seven-year-old Jack, he enjoyed being the lead and making sure Joe was OK, helping Joe cross the street. Like Joe, don't do that. Like grabbing his hand. He enjoyed it. He did. And you didn't have to ask him to do it. No one had to ask him. He wanted to. EMILY: That's true. And I do. Jack is a special breed. And I do wonder if all kids are like him, because he he's just like the sweetest seven-year-old. I don't know. And I know I'm biased, but he always gives hugs, and he always just cares about how people feel. And so I'm hoping that that's normal, like with other kids as well. ALLISON: I think it is. So Jack is sensitive. He is a very sensitive boy, but I do think that is normal these days. I think kids are brought up a little bit differently. I think kindness is taught now. So, taught might not be the right word, but they talk about it in school and how to be kind and how to treat people. And I don't remember that growing up when, you know, we were in school - talk about kindness. So, it's something that gets ingrained in them. And yes, I think a lot of it's also just natural behavior. But I see it with his friends, too. Like he has certain friends that are also, you know, very kind and sensitive. And I think I do have hope when Joe's in school is that he will have kind friends that will open up with him. EMILY: I hope so, too. And we did recently get to see him at a school event, and I did see a lot of it was mostly the girls, though. The girls love Joe. They love their Jojo. But they're so young now. So I do worry when they're older. So I mean, do you think that Jack and Owen, and this is actually a question that somebody asked through Facebook as well. Like, do you think that by having a cousin like Joe that they are becoming sort of more empathetic and will actually be advocates for Joe and kids like Joe? ALLISON: I think I saw that question, and I think they will. Not yet. So I think right now, we don't talk a lot about Joe's differences, so I don't think they fully understand. And I know we'll get into that a little bit later too in the podcast. But I think for the most part, when they get older, I do believe they will be his advocate. They will be kind to others because they know I have a cousin who's also a little bit different and might act a little bit different in social situations. I do believe that. Right now, that's not the case. So I think they don't fully understand that he's a little different. And so if others might be behaving differently, I don't think they fully grasp it. EMILY: So that's a good segue. How do you explain Joe's condition to Jack and Owen? ALLISON: So we don't talk about it much. And I don't know if it's the right approach. We just don't know with Joe. We don't know where he's going to be in a year from now. If you don't know, but he does behave differently. So Jack is seven, he's a little bit older and knowing this podcast was coming up, not having talked much about Joe's differences, I did approach him about it and ask him, how do you feel about Joe? Do you notice that he acts a little bit differently? And Jack said, “yes, yes, I do. I know he's different. I know he behaves differently. He doesn't talk. And that's a big thing that they notice is he doesn't talk.” And so we talk, we don't know if he ever will. We're really hoping he will, but he might communicate differently. And Jack talked about the book. Oh, is that why he uses the book? And yes, that's why he uses the book. That's why he points in. That's how he's learning how to communicate with you. How do you feel about that? And he's like, “oh, that's fine.” I think it's still harder for him to fully understand what it means and that it might be harder growing up. Owen, it's a much tougher conversation because I think Joe really, I think because they're the same age; Joe loves Owen. And when you see them get together, Joe immediately gravitates to him. But Joe, to get his attention, a lot of times pushes. He pushes him; he'll follow him. And sometimes like accidentally hurt him, not meaning to, but does that. And so Owen has a very different experience. Owen asks, like, why does he do that? Like why does he keep hitting me? Why is he following me? EMILY: He’s knocking down Owen's toys. Exactly. I've noticed that. ALLISON: Yeah. Why is he throwing that toy at me? And so for him, we do have a very different conversation because that does come up a lot. We just talk about how Joe has trouble communicating. And, you know, this is how he communicates. He really, really loves you. He wants your attention. He can't call your name. So he's, you know, reaching for you, and he wants to play with you. But like, I hate to say it, but, you know, sometimes it can be annoying. And just like a little brother can be annoying. Like that's kind of how it can be. I think as they get a little bit older, Owen will be more sensitive to it and more understanding than he is now. EMILY: You know, I struggle explaining Joe's diagnosis to adults even. So explaining it to a kid is tough. And, you know, the best way that I normally do it when I'm when I'm talking to mostly adults, I've never actually really had to explain it to a kid is more that I'm just like, Joe just goes at his own pace, and that's a bit slower than everybody else. So it takes him a little longer to understand things. And so that's why we need to be patient. And that's why I had to remind myself to be patient. But it's like - it's Joe's pace. ALLISON: Yeah, it is. And I think, yeah, for us, the talking, well, the lack of talking, I think is what stands out the most with my two kids noticing. And that's where the questions come is - why doesn't he talk? A question for you, is it okay? Then I'm saying, well, Joe's different. He communicates differently. Like, is that okay? EMILY: Yeah, because, yes, because, and I'm saying things that again, might be more from me and controversial, because I don't mind saying that Joe has special needs, and some other parents get very upset by that, but just by that term. But I'm like, he's special, and he has different needs. So, you know, I don't mind saying that, and he is a little bit different, and, you know, different is fun, and all kids are different - like everybody's different in their own way. And honestly, I know a lot of parents with kids with SKDEAS are going through much harder times than me, because right now I would say Joe is not having seizures. So he's currently very healthy. He's getting most of his services through the school, and he is the happiest child in the world. So sometimes I feel like raising, and I have a three-nager at home that is horrific. So sometimes I feel like raising a special needs kid is not that much harder than what you have to deal with. You know, we all have our own struggles. ALLISON: Oh, see, I'm interrupting you because I completely disagree. Because I just don't think you know; because Joe is really hard. He is very hard. Like I think about it all the time. I think about it when school’s canceled for a snow day, and I can have both of my kids up here. I can throw the iPad at them. I can give them a bunch of Lego bricks to play with. I can give them the PlayStation, and they're fine. I can leave them for hours, and they're fine. We can get through the day where Joe needs constant attention. You can't take your eyes off of him. It can be exhausting. Even when we babysit, it can be exhausting. So I know this is what you're used to, and that's the life that he's your oldest, so that's just kind of what you have learned. But I look at it as he is. He's hard. He's really hard. EMILY: Yeah. I mean, child care is. Yeah. One thing I'm going to take that off the table, because that is the worst. Child's care for somebody like Joe, who I still can't get potty trained. But then I compare. But then I compare. I compare him to Ben, where I'm like constantly nervous that Ben's about to like poop in public. And I don't have to worry about that with Joe. ALLISON: Well, that's because he just got potty-trained. That will go away. EMILY: I know. But I'm trying to think of an example, because one of the things with Joe is that he's just so happy and things. He's such a chill child. Like everything rolls off his back. He's just very happy. I get more upset on Joe's behalf about things, I would say, because I know how hard it is for him. And that's really what I would say is hard. And maybe that's why I'm saying that it's not so hard growing up or raising Joe, because I think it's a thousand times harder for him, and all the struggles that he has to go through that I wish I could take away. But it's like, like Owen, for instance, I'm just thinking of a totally random example where Jack was opening up his birthday gifts, and Owen's just started to cry because he didn't get a gift because it wasn't his birthday. And Joe's just running around the room with a balloon and was entertained by the balloon. So it's stuff like that where we don't have, I mean, we do have meltdowns with Joe, but I just feel like he's easier in some parts where I don't have to worry about him getting upset about things that other kids have to deal with. ALLISON: Yeah, but then I think of a birthday party. Like we'll go to a birthday party for Owen, five, it could be at a jumpy place or something. I can let him go, and he can play with his friends where Joe unfortunately can't. Like he doesn't just run around and play with his friends. EMILY: I hate birthday parties. I hate them. ALLISON: I know, and I said it before, but it's so heartbreaking for me. Like I hate to see like what you have to go through. EMILY: See, but that's not, okay. Like that for me, it's like, it's so hard for Joe. But again, like I don't think he cares. We'll use the bouncing birthday party, the bounce house birthday party. I hate those places with a passion. I'm never going back to another birthday party at Bounce Town where all the other kids are able to, you know, climb and run up on things and jump around, and Joe can't do that. But so basically, he was hanging out with me the whole time on the like little kids’ area, but he was having fun. I was the one that was very upset that he wasn't hanging out with his friends, and nobody was coming over to play with him. But he was having a ball. You were in the car when my husband called the other day, because he had to take him to a birthday party that I couldn't go to. And they were saying Joe just kind of like wandered around the whole time. And that just upsets me for Joe. Because like I know he has friends that really like him, but it's the girl’s party that, she had come over to the house once before; she loves Joe. She like doesn't mind the pushing. She said, that's how he gets my attention. And so she loves him, but it was her birthday party so she had a million other people to play with. So she wasn't playing with him. And so he didn't seem to care, but that kind of stuff does upset me. ALLISON: But yeah, that upsets me. And then even just going back to the cousin and sibling relationship too. Joe will be in a group with some of Owen and Jack's friends. And they also know, I mean, they notice that Joe behaves differently - communicates differently. Because he's five and not speaking. Not speaking. And so they notice, and I'll bring it up here. It upset me, and I didn't even hear it. But I know Trevor, your husband, heard it and mentioned it to me is, you know, someone wants asked Jack – “what's wrong with him?” And Jack said, oh, don't worry about him. He doesn't know anything. And it was not meant in any way to be mean, but those questions are going to come up more and more. And I don't, right now I don't think Jack and Owen know how to answer that. So as they go out, as they'll get older and start going out in public more, for birthday parties or whatever it is with Joe. People are going to be ask, “why is he different or why is he doing that?” And I think I have to educate Jack and Owen on what to say, because when I heard that I felt so, so bad. Because he totally didn't mean anything by it, but he just, he didn't know what to say, and I think I have to educate him. EMILY: Yeah, I know. And that's, and that's on me too. Because I could do a better job of that. Because also what's interesting is that adults never asked me, because I think they're afraid. Well, one, they all just assume that he has autism, and/or they're just afraid to ask. So now that's one of the reasons why I really like that we have a diagnosis, because I'll just throw it out there. When we're just doing stuff and, and he's, you know, running behind, I'll just be like, oh, you know, Joe's just, you know, he's, he's got a rare disease. And I just throw it out there because first of all, I don't actually know if he has autism or not. We have decided that we're finally going to go and actually get him tested because everyone says that he doesn't. But we actually really need services that he would only get if he has it. So we're like, what does it, what does it hurt? But I do get annoyed. ALLISON: And I also assume that autism is something people understand. When I try to explain what Joe has, sometimes I have trouble. EMILY: Yeah, I know. I feel like we need an elevator pitch like at work that when run into the CEO of your company on the elevator to say what you do. I think we need that to give to Owen and Jack to help them explain it, so that we know it’s a nice way of saying it. Because Jack saying he doesn't know anything was probably more just like he doesn't care. I don't know. I'm sure he wasn't. ALLISON: Yeah, and that’s true - it wasn't meant exactly in any type of ill will. He probably also would say that about his little brother like, yeah, don't worry about him. So probably something like that too. But but they will be asked because kids notice. I mean, they just they notice that he's different. And it will become more and more prevalent as they get older. You know, we have so much baseball and so much soccer now; it's nonstop, and I'm able to go to the fields, and one kid's playing, the other one is off. One kid's playing the sport, and one kid's off with a bunch of other boys doing something different. If Joe were to join that and go out there, you know, he wouldn't be able to kick the ball around. He wouldn't be able to throw the ball around. And I wonder … EMILY: Nor would he want to is the other thing. ALLISON: It's true, but he but he wants to be in there. Yes, Joe wants to get in there. He runs around and runs circles around them, and that's fine, I guess. But yeah, I think it's just going to become more and more of like a topic of: OK, can I bring Joe, and here like this is my cousin. Can he just play with us? EMILY: I don't know. I mean, do you think that they would ever think of Joe as kind of the way that they might think of a friend rather than, you know, their cousin who's a little different? ALLISON: It's a tough question, because I think about it with how my kids behave around their other cousins on like the other side of the family or even Ben, like Joe with Joe's brother. They're able to go immediately start playing with them and laughing and giggling. And even their other cousins live pretty far away in Virginia, but when they see each other, it's just off and playing. Where I've noticed when, we're so close - we see each other all the time. When we come over to your house, they bypass him; they'll run in - and sometimes say hi to Joe, don't forget to say hi to Joe. And they run in, and I think now they actually do run to Ben sometimes too now because Ben can play with them. I hate to say it, but he can play with them. EMILY: Well, and he interacts with them. ALLISON: He does he interacts with them so they see him and say, Oh, great - are we having a sleepover with Ben? Like, what are we doing with Ben? Because, yes, they can interact. And I think about with, you know, their best friends, they immediately - as soon as they see each other - it's big hugs. It's like, even if they just saw each other the day before, it's still big hugs and like, let's go off and play. They don't have that relationship with Joe because they don't get that, that interaction back, I guess. Or so they'll go to the one like Ben or someone else who will give them that - Oh, we're so happy. I'm so happy to see you. And I'll give you a hug and like, let's go play. EMILY: Yeah. Yeah. And it's, I've noticed the relationship is very different with Ben. And, even Ben now, for instance, is like, I want to play video games. And so it's like the other day when they were over at our house. It was Ben, Jack and Owen sitting on the couch playing video games. And Joe wants nothing to do with it, but didn't care. But I kept trying to get him to be more, you know, playful with them. And it's just, it's tough. It's like, you have to find an activity that will keep Joe's attention for more than two seconds that a five and a seven-year-old want to play, want to do also. And that's why AAC is so important to me. So that, we can find ways for Joe to communicate better with the world and with kids his own age. And so he uses the pod book now, which, you know, it makes him stand out a bit, and eventually it will transition to an iPad. But, you know, I've noticed that Jack will interact a bit with the book with Joe, which is good. Because I think that I always like when you see Joe's friends looking at how Joe is trying to communicate with the world. And, you know, point to things that they think that he's trying to say or that, or that maybe they want, because I think that normalizes things a bit as well, and makes Joe feel a little bit more comfortable. ALLISON: Yeah, I would agree with that. Because I think Jack understands what Joe's trying to do with the book. And so I think Jack finds it kind of interesting - and like, can I talk to you this way or even - it can be a little fun. Like, I'm going to point to this and that and when you have the iPad, I can get the iPad to talk and say a sentence. I think he gets it more, and he understands. We were talking about that. Like, that's why he went last time we spoke about it - that's why he has the book and that's why he's trying to communicate. Jack will learn that book. If it means that's how he's going to communicate with his cousin, I'm confident Jack would learn that. I'm confident that if it means we have to learn American Sign Language, he'll learn that. Owen, when he gets a little older, will also learn what he has to learn in order to communicate with Joe. It's not anything that I would have to force them to do. It's not anything that I would probably even have to ask them to do. They will want to communicate with him, and they will find the best way to do that. If it's learning something slightly different, I'm very confident that they will do that so that they can communicate with Joe. EMILY: Yeah. I mean, the good news is our goal is that—I mean, one, that Joe speaks, but the other one is that he does shift over to the iPad, which kind of speaks for him. He obviously understands what people are saying, so he can actually have a conversation with somebody his own age – which would be lovely . I think I've said this a million times. I just want to know what's in Joe's head. ALLISON: We all want to know. We just want to know what he's thinking. Yeah. I mean, I don't know if I have said it, but I've seen him grow leaps and bounds in his development recently, faster than he's ever done it before. So, it's exciting to see that. And we're all, I think, very hopeful, but at the same time, I need to prepare that he might not ever speak. I shouldn't be taking that negative route, but it's always in the back of my head of, like, what if he doesn't? EMILY: I know, because it is, again, Joe going at his own pace. It's so, slow going. We've been using this book for over a year now, and we still can't have a conversation. He can point to things, and he can request—he can request a lot of things now, and I got very excited the other day when he told me that his toe hurt using the book. Which is things like that that I always feel like: we have a family text, and I just—sometimes I feel really dumb when I'm just celebrating stupid things like that. ALLISON: Well, and I think that family text is an interesting topic, too, because, one, I love it when you share that stuff. And when you send videos, like, even with the foot, like, that he was pointing to his foot, like, it hurt, I shared that with Jack and Ben. Like, look, look what he was doing, look what he was pointing to; that's so exciting. But I will say when—especially when you were still in California, and things were just not progressing the way they should, I purposely didn't share certain milestones of Owen’s, because I didn't want to make you feel bad. EMILY: I know. And I feel like Mom would tell me, like, oh, he said his first words or things like that. I felt like - she can tell me these things. ALLISON: But I just felt so bad. I didn't want to— I almost felt like I was rubbing it in when I'm like, look, look what he's doing now. Look, he's talking. Look, he's walking. Look, he's running across the room and you're just like, I can't get him to sit up. Yeah. I would—sometimes I felt so bad. So I would just occasionally would share something, but otherwise, yeah, I didn't tell you. EMILY: I can be totally, brutally honest that I am never angry or jealous or sad about Owen's development, and what he's done. And I used to have, I think, when I was going through the grieving process with Joe, I had a lot of anger around the disease, I guess, which I think finally I'm in the acceptance stage and focused on how I can make life better for Joe. And I am always happy to hear about how well Owen is doing. You know, he's a funny little guy. And I love all the Owen stories. And, honestly, Joe benefits from being around other kids. And so that's also why it's really good that he's so close to Owen. So when Owen—the more Owen develops, the better it is for Joe to see. I don't know if he knows that they're the same age, but it's, you know, good for him to see what the kids in his class that are the same age and kids like Owen. You know - how they behave when they're out in public, and how they play with toys, and how they do things, and how they speak even, and how they interact. Because that is why he's making all the progress is because he's watching other kids and learning that way. So I hate that you—and I knew, I knew that was true. And I hate that you felt like you couldn't share that sort of stuff. And, yeah, please -don't feel like I'm ever upset about—because I'm not upset about Joe. So I'll put it that way, too. Like, I'm upset for Joe, I would say, like, like, because I know how hard his life is going to be. But it helps that he's the happiest kid in the world, as I like to always, always point out. But I'm never, never upset to hear about Owen. And, be honest, like, are you ever like, “oh my god, Emily, that's so stupid”. And I'm just like, Joe said, buh, buh, buh, buh. ALLISON: Well, you know, no, definitely not. When he came over once, and we were convinced he said Daisy. We were convinced when he saw our dog that he said Daisy. And for us, it's a huge celebration. Like, he said—I think he said it. Did you hear it? I think we heard it. And, the boys are like, yeah, yeah, he said it. And so, I think we're—yeah, we're going to be celebrating things in a different way when it comes to Joe's milestones. And, yeah, but I can't help but still always feel bad. And I haven't reached the acceptance stage yet. Like, it's still very upsetting. I don't know; I just, I see how hard it is. Like when we go out in public, I see how hard it is. You've got to make sure you grab him, like he's going to run across the street, where my kids are at a point where they know - crossing the street, you have to look both ways, because a car can hit you. They know that, and Joe doesn't know that yet. I just hope he gets there. We have every hope in the world. And I think it also goes to whenever we come over, and I see them like running past Joe. I know Joe understands them. Joe sees them, and I feel so bad when the boys run right by him; like, wait a minute, give Joe a hug; say hi to Joe. Because he understands us, and he wants the love and the affection, and I feel like sometimes they don't give him all that. And so that’s stuff that I reinforce now, but I really do believe as they get older, they're going to be very close. But also, again, I’m going to bring up the heartbreaking. What I find heartbreaking is they're going to, when they're older, they're going to say like, Hey, Ben, do you want to go to the movies with me? They're not going to - are they going to ask Joe? Can Joe go to the movies with them? Like it's, it's that kind of thing. Like, Hey, Ben, you want to go hang out? Can they do that with Joe? EMILY: I know. And it's stuff like, for instance, Ben did go to the movies with Jack and Owen, and I took Joe to dinner. ALLISON: And I found that so sad. EMILY: But that's one of those things where, and I find it so sad too, but Joe doesn't. And that's the thing. And so that's why I'm just like - at the moment, he doesn't. So it's like, because there was no way he would - he doesn't want to sit through a movie. I wouldn't make him sit through a movie. He would sit down in the seats for like two seconds, being all excited that he's sitting with his cousins. And then he'd be up and refusing to sit there. So it would be more torture for him than anything. But that's going to happen more and more. Like I've always wondered if there's times when we're doing a family event or, I don't know, going anywhere where your boys are just like, do we have to go with Joe? Or do we have to invite Joe? It's like, I don't know. ALLISON: Well, and, and we've hit that point sometimes. So, Jack had his seventh birthday party, and I let Owen invite a friend, a five-year-old friend, because I knew that he could keep up and do what they were doing at this birthday party, and I knew Joe couldn't. So I knew Joe wouldn't be able to keep up and do it. So we didn't invite him. And I felt really bad about it. And I felt like I had to explain - it's kind of like a CrossFit for kids party, and Joe won't be able to keep up. And Ben we knew no way would he be able to do it because it was for older kids. But Owen was able to invite another five-year-old who could keep up with him. Where we didn't invite Joe, because we knew he couldn't keep up. So it's already happening. Yeah. EMILY: Yeah. I know, and I assumed that in that case too. Because that's happening, but you did not tell me that Owen took a friend. ALLISON: And yeah, exactly. And I didn't want to. And you know, part of me was also like a little embarrassed by it. Like, am I behaving badly by not inviting Joe? But I also knew it would be first really hard on you, because you would see that he couldn't do what the other kids were doing. I mean, it literally was CrossFit for young kids. EMILY: I know, I saw the videos. Like rolling tires and doing that. And following direction. ALLISON: So that's the problem. And following direction, and pairing up in some cases. I knew it was something that Joe couldn't do, but I also felt like embarrassed and felt really bad that I excluded him. I don't want my kids to exclude him from things and was I setting a bad example by doing that? But I also thought I was protecting you and protecting him by not having him there. EMILY: And that's why I said, I hate birthday parties earlier. ALLISON: I feel like that's going to get worse. EMILY: But I would say - talk to me about those sort of things; because I was trying to think, this is another question that came up - how we could better support each other? That's where I struggled. And that's where I was like, it's just talking to each other more. And I know that I need to ask you for help more. ALLISON: Well, and yeah, I mean, you're in a very lucky situation in that you have family 10 minutes down the street from you, and you don't take advantage of us, and you should. You should be, yeah, let's drop the boys off. I just need a break because I need a break sometimes with my two boys. But where I, where I just find I can say, OK, boys, you can go upstairs. You can play on your own. I'm going to go take a nap for an hour. And I know everything will be just fine. You can't do that. But also, I think it does come down to maybe the communication part of it - like where I was embarrassed to talk to you about it, because I felt like I was being a terrible aunt - not treating Joe the way I should. And I should have just talked to you about it. EMILY: Yeah. And the reality is that Joe can't participate in everything nor he might not even want to participate in some things. And I think a lot of times I put too much pressure on, I know I put too much pressure on myself to try to have him participate in something, something I'm like a normal activity when he doesn't want to do it. And I shouldn't, shouldn't force it on honestly, either of us. ALLISON: And yeah, that's all totally natural regardless of I always forget what you call the neuro divergent? No, no, is that it? EMILY: No, that's not it - neuro diverse needs. ALLISON: What do you call Jack and Owen? EMILY: Neuro typical. And I hate that. Yeah. Yeah. Neuro typical. Because you don't want to say normal because that's not the word. So it's just like, Yeah. Neuro typical. ALLISON: I even have a hard time speaking about it. So I don't know, if I'm saying normal, is that incredibly offensive? EMILY: It is. ALLSION: Versus neuro typical. So I remember Joe was doing soccer with the boys with Owen, and there was the big group, and you were always trying to get Joe in there. Joe would run out crying, and we would also have to remind you - look at that kid and look at that kid. He's crying too. His mom is dragging him in; it's normal for boys like these young kids; even Jack at seven years old. I had to drag him to soccer the other day. He's just; I don't want to go. That stuff happens for sure. There was still that level of, as you brought him into the coaches that they had, of having to explain him. And right now – well at the time - it was like, well, he's a little delayed, but now it's different. And it kind of goes back to the conversation we were having earlier. As Jack and Owen bring him out and see, Hey, these are my friends. Like, like, oh, he has special needs. Is that what they're going to say? Like, what are they going to say to try and, and, and introduce him to people? EMILY: Yeah. I mean, I would say one of my biggest struggles right now is running into just random people because Joe is so friendly. And, and first thing - oh, what's your name? I'm like, how long do I wait for them to realize that he can't answer? Because I don't want to answer for him because he has yet to learn in his book, for instance, to say I'm Joe. And even when he's holding it, the people are still not putting two and two together. ALLISON: They won't. EMILY: Yeah. And so I'm just like, oh, he's Joe. And then oh, well, how old are you, Joe? I'm like, oh, get the message. ALLISON: Yeah. I feel like that's only going to get harder as he gets older, because it's almost like, oh, well, he's young, maybe he's not speaking, talking yet, maybe, but then when he's 10 and a much bigger kid, and then they say, “hey, what's your name?” And he's not answering. EMILY: Well, so that's when I'm hoping it's easier because he's using the iPad or the book and AAC. ALLISON: But that's a good point. And I guess I shouldn't even speak like that. I should be very hopeful that he will be communicating, whether he's talking or it's using the book or the iPad, he will be communicating when he's older. EMILY: So, OK, so I think we covered everything without embarrassing any of our children, hopefully. I still don't know about Joe, which is again, a fear I'm always going to have. I think one thing that I'm going to take on the next time I see Owen and Jack is to probably figure out a better way to for them to talk about Joe. ALLISON: Even as we've been talking, and as I was preparing for this and talking to Jack a little bit. I don't talk about it enough with them, and I don't want them to ever think it's a taboo subject. We love Joe. Joe is Joe. Joe will always be somewhat different, but. EMILY: And we celebrate that he's different. So I think that's. Exactly. ALLISON: I think that's the big thing is – we celebrate it. It's OK to talk about it. It's OK to ask questions and not be embarrassed about it. Because I also hope, you know, when they're off in high school together, walking to like chemistry class or whatever it is, I don't want them to be embarrassed in the hallway. I want them to accept him for the way he is. And yeah, if he's using an iPad instead of talking, that's totally fine. My hope and dream for Joe is that he is walking to chemistry class with Owen. You know, he's doing those things that Owen is doing. I don't know if it might be. I suspect it will be different, but that he will be able to do those things. EMILY: Thanks for listening. I hope you found today's discussion helpful in your rare journey. If there are any other topics you want me to discuss, questions you have for some guests, or if you want to be a guest in the show yourself, please reach out to me via the email included in the show description. Please also visit skdeas.org to learn more about Skraban-Deardorff and consider making a donation to help fund research to help our kids. Talk soon.