I am not paralyzedby sadness anymore as I roam the toy aisle at Target I want you to know it gets better (and then it gets a little worse, but then it gets better again. and that’s just before breakfast. You get the idea). on the eve of his 21st birthdayI am not buying my firstborn a six packor promising to pick him up from…
From Autism to Rare Disease: Our Family’s Journey to an Unexpected Diagnosis
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.