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.

Autism and Wandering: Keep Our Kids Safe

In 2004 our son Andrew was diagnosed with severe autism (by today’s DSM-5 diagnostic standards, a level 3 in severity). Since then, the amount of sleep we have lost worrying about our son’s safety cannot be quantified. There is no chart or graph or equation in existence that can statistically depict the fear we feel…

She Was Me.

He was supposed to play in his first Challenger baseball game of the new season this morning, but instead we found ourselves at our local Children’s Hospital emergency room, making sure Andrew’s foot wasn’t broken. (Never a dull moment around here, that’s for sure). It was there that I first spotted them; a father and…

We Should Have Had More Kids, Right?

The panic washes over me suddenly while I’m in the shower. We should have had more kids, I think to myself. “WE SHOULD HAVE HAD MORE KIDS!!!!!!!!!!!!!!!!!!!!!!!!!!!” I scream to my husband, the words piercing through the hot steam, penetrating my heart, echoing through me until they settle in my soul. There is silence on the other…

The Night Before

It’s the night before Andrew’s first day of school. For many years this night held a mixture of excitement and anxiety for me, and after his new outfit and shoes were laid out, and his lunch box was packed, and his backpack was filled with shiny new school supplies, I would lay wide away in bed, endless questions…