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.
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…
To Thine Own Self Be True
I finally got my five-year chip this morning. After a hairy start to the day, my logic, the part of me that said I had a sink full of dishes, a calendar full of deadlines, a small window of time to clean and cook before the boys returned from summer school, took a backseat to…
“You’ve Got a Long Way to Go”
“You’ve got a long way to go,” he said. The words stung like hell. I knew he meant well; he always did, but I wish he had just slapped me instead. It would have hurt less and that kind of pain eventually goes away. “You’ve got a long way to go.” The words kept echoing…
Tuesday, March 29th, Life/Food Section, Page 3
This morning, just like every weekday morning, I had to get the kids up, dressed, fed, and ready for school.Instead, I drove like a bat out of hell to my nearest gas station and bought three copies of The Orange County Register. What? That’s all they had left.I screeched into the driveway, jumped out of…
When "OMG,That Sucks" Doesn’t Even Begin to Cover It
I’ve been keeping things pretty light-hearted around here lately. Sure, once in a while I make you suffer through a bout of poetry that probably only makes sense to me, or I touch upon our struggles of raising a special needs child, or I vent about random crap that needs to be vented about so that…
Lumberjacks are people too
In an effort to keep from rolling myself into the fetal position and giving in to the voices inside my head, I’ve convinced an innocent woman new therapist to take me on as a patient. I found her through my network provider website, and picked her out of dozens of names because of her close proximity to my…