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.