SYNGAP1: The variable that changed my life!
Hi! I’m Sarah, and I’m a first-year PhD student at the College of William & Mary, where I studied neuroscience and psychology for my undergraduate studies. I’m beginning my journey into graduate school, focusing on computational neuroscience.
I’m writing this story because SYNGAP1 is not just something that I study daily – it is something that I live every day through my little brother. His diagnosis shaped who I am, what I care about, and the path I’ve chosen in life.
Before my brother was diagnosed, I remember a life that was both predictable and filled with uncertainty. As time went on, it became clearer to my parents that my brother was developing differently, and the moments of confusion and uncertainty raised questions we didn’t have answers to.
To me, SYNGAP1-Related Disorders are two sides of the same coin; on one side, it is a condition that affects the way in which the brain develops and functions. It is epileptic activity and delays in development; it’s protein function, and genetic mutations. On the other side of the coin, it is family, smiles, and laughs; it’s the warm hugs and routine. SYNGAP1-Related Disorders is a clinical definition, but it is also a condition that touches every part of a family’s life.
When my parents explained my brother’s diagnosis, they did it with honesty and care. They needed to help us understand the importance of family and advocacy, understanding that SYNGAP1 was tough, but we’d have each other to rely on. At the time, I didn’t fully grasp the science, but I understood that my brother would be facing challenges that other kids might not, and our family would need to support him in unique ways.
Living with a sibling with SYNGAP1 has deeply impacted me. It taught me patience, resilience, and empathy, but it also comes with its challenges. There are moments of worry, times when you have to grow up faster and learn to take responsibility. More than anything, it has taught me the resilience and incredible power that parents have.
At times, SYNGAP1 feels isolating; in a lot of ways, friends cannot relate to moments in my life, and huge wins in development seem like a daily thing for most. I cope by channeling my experience into purpose. Now, when I study, when I work, when I sit with pages of equations or models that try to describe the ways the brain organizes itself and sometimes falls apart – I think of him. I don’t always say his name in my work, but he’s there. In fact, my advisor and I even named a variable after him. It’s a small detail, one that most people would never notice, but to me it means everything. It means carrying him into the science of making sure that what I do is never separated from why I started.
Because at the end of the day, this was never just about the research; it’s about him, about all the moments we’ve had, and all the ones we will continue to have together. Living with a sibling with SYNGAP1 is complicated. It’s love, but it’s also fear. Pride, but it’s also grief. Some moments feel overwhelming – especially during seizures, or times when they aren’t getting the care and attention they deserve. It’s also the quieter moments, too, when you realize that the future is unknown but will be worth every second.
There is so much joy in who he is, the way he experiences the world, the small moments we share, the presence he brings into my life – it may be different than what most imagine, but I wouldn’t trade it for anything, because it’s real and it matters. One of the ways I try to turn all of this into something bigger is through community. Had it not been for Sara Driscoll taking a leap of faith with me, this would have never been imaginable, but this year I’m helping organize the Sprint for SYNGAP: Mora & Qusay 5K in Williamsburg. It’s not just a race with a finish line; it’s families all coming together for the same reason. Every step of that race is personal, every moment, it’s for him. It’s for families like mine who spent years searching for answers.
To other siblings, I would say this: it’s okay to feel everything you’re feeling. The love, the frustration, the anger, and the pride can all exist at once. SYNGAP1-Related Disorders change the path of more than just your sibling; it can change your life, too. And to parents: you are incredible, and there is so much pride we feel as siblings to be raised by individuals who are so strong and resilient.
Everything I do, in some way or another, comes back to my brother. He changed my life, my path, and I wouldn’t change anything for the world.
Read Sarah’s interview with the Williamsburg/Yorktown Daily about Sprint for Syngap 2026.
