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.

Shut.Up.

He is wiggling in his seat and not the good kind of wiggle   It’s the kind that let’s me know all hell is about to break loose   “It’s okay baby,” I purr as we pull out of the driveway but his wiggles turn to whines and I turn to the deep breathing I…

Somewhere In the Middle

That is where I am I don’t petition the governmentOr write threatening letters to drug companies I don’t tape record IEP meetings or have a panel of attorneys at my sideI don’t demand that the school district pay for horse therapy or expect hard working teachers to perform miracles I stay awake at night, counting…

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…