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.

125mg + 125 mg = Too Much Medication

“I can get you in on the 12th of February at 4:15 p.m.” “Wonderful. Thank you Dr. Marci. In the meantime, can we start decreasing some of the meds? It just seems like so much.” “I want to decrease the Klonopin first, but in order to do that, we have to go up on the…