SYNGAP1 Patient Stories

A Perfectly Beautiful World

Claira Beth Brown was born on a gorgeous Sunday morning with the sweetest smile and the biggest blue eyes you have ever seen. Just like...

Eleanor is our spunky, loving, and creative four year old. She was recently diagnosed with SYNGAP 1 at the end of this August, 2016,...

Ena was born 20.02.2011. My happiness knew no bounds, I thanked God that gave me because I was desperate to. Childbirth has passed...

We are lucky, at least that's how we feel after every visit to the children’s hospital. Our kids are mobile, they express love and...

February 7, 2011 my whole world changed. My baby hadn’t moved in my womb the way she had been. I went to the doctor, they did a...

Sonny slept like a beautiful angel for the first five weeks of his life. I luxuriated in my perfect little family. My sweetheart husband,...

“Happy Father’s Day” I casually told P almost 7 years ago. The look on his face said it all, “oh.” Since then, there have been many “oh”...

In 2005, Jaxon entered life experiencing a traumatic birth with a nuchal cord (umbilical cord wrapped around the neck) three times, which...

At Miss A’s four month check-up I expressed concerns about her not wanting to roll over, but the doctor answered that babies all do...

This is our story, the story of a child, waiting for 8 years and then this birth, which we give joy to finally be parents. We do not know...