Rare Disease Day
Rare Disease Day is an annual international event created to raise awareness of the hundreds of millions of people around the world living with rare disease. As a clinical geneticist, it is often a day of reflection as to why I entered this small field in the first place. Being a physician has been a lifelong goal of mine, but I didn’t realize that the field of clinical genetics existed until I entered medical school and was introduced to the field by my first genetics mentor. From that point on, I knew that I found my calling in working with kids with rare genetic conditions. As I progressed though my training and later in my career as practicing physician, I have encountered countless amazing kids and families with a wide range of conditions and abilities. I can easily say that no other group of individuals has impacted me as much as the amazing kids with Skraban-Deardorff syndrome.
As it often happens in medicine, it was pure chance that I became involved with this condition. In 2015, I was a genetics trainee at the Children’s Hospital of Philadelphia working in the lab of Dr. Matt Deardorff. I can vividly remember Matt excitedly coming down the hall announcing that he thinks we’re on to something. These days, the discovery of new genetic conditions is a team effort. Through an international site for collaboration in gene discovery, we had “matched” with another group of scientists and clinicians on another continent. They also had an individual with a change in the WDR26 gene who had similar symptoms as our initial child. Certainly interesting, but two individuals aren’t enough to prove causation. With time, we gathered 15 individuals from around the world, all with new changes in the gene who shared a similar group of characteristics- developmental delay, low muscle tone, seizures, unique facial features, and amazing personalities. After extensive basic science work in Matt’s lab, we were confident that we had identified a new condition which was published in the medical literature in 2017 and is now known as Skraban-Deardorff syndrome (named after us, but not by us). While an honor, I think I can speak for both Matt and I when I say that it is still strange for us to refer to it as Skraban-Deardorff syndrome.
I am blessed to be surrounded by an amazing team: Matt and Katie Grand on the West coast and Chris Gray who works with me at CHOP, who have also invested their time and energy in working with these kids. Since 2017, we have learned a great deal about the condition through our interactions with children, families, and physicians from around the world. With every individual we meet, we realize how similar and yet unique these incredible kids are. We are very fortunate for the opportunity to learn from each child and from the collective knowledge of their supportive and dedicated families. It is from these interactions that we gain a better understanding of the condition with the ultimate goal of improving the lives and optimizing the potential that’s within them.
I am truly grateful for the opportunity to continue to work with this group of kids and hope to do so throughout my career. I keep a picture of the group from the family meeting last summer on the home screen of my laptop as a daily reminder of what a privilege I have been granted and to motivate me when life gets hectic. I don’t have to tell this group about how amazing and special these kids are. Their bright smiles and engaging personalities instantly brighten your day and it is hard not to fall in love with every one of them. Who knew that the day Matt received that first “match” would impact my life and career as much as it has. Funny how something as simple as an email could result in such an amazing gift.