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.

Parenting a non-verbal child can suck sometimes.

It’s been a strange few weeks here at the Ashline household. Andrew’s been fluctuating between intense frustration and euphoric joy and none of us are getting a full night’s sleep due to his erratic night schedule. Mikey is operating on fumes and I’m close behind. Andrew has started stimming a lot, squinting his eyes, laughing…