After being diagnosed with autism, epilepsy, global developmental delay and intellectual disability at the age of two, at 16 Andrew was diagnosed with Syngap1, a rare genetic disorder that explains his lifelong physical, cognitive, and communication challenges. We know there are more kids and adults like Andrew out there, who have Syngap1 and just don’t know it yet. By bringing awareness to this rare disease, we hope to help families and clinicians identify the Syngap patients and drive research towards successful therapeutic interventions.
Undiagnosed: Still Searching for Answers
In August of 2010, we got the call from our pediatrician: “Andrew tested positive for cystic fibrosis,” she told me gently, and I imagined her kind eyes filling with concern as she heard silence on the other end. That call began a roller coaster of emotions for our family and set off a chain of…