Jack

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4 years old
Sandpoint, Idaho

Jack was born March 4th, 2020. He was diagnosed with SYNGAP1 on November 7th, 2023. Jack also has an epilepsy and autism diagnosis.

Jack, our 4 year old sweet and silly boy and has been our little mystery from the beginning.  When he was 6 months old, we knew something was different. He had no interest in toys, he didn’t use his hands, and he would not hold a bottle. We started physical therapy soon after but did not see big improvements. When he was 1, he had his first MRI which came back normal.  Our neurologist at the time believed Jack had Cerebral Palsy, though we were still not sure.  Jack continued to show extreme delays so we added on Occupational Therapy, and Speech Therapy before his second birthday.  When he turned 2, we had another MRI which confirmed again it was normal. The only instructions we were given was to continue as much therapy as we could. We started noticing Jack having eye flutters around the age of 2 1/2.  They started happening more frequently, so we ended up with an EEG only to find out they were in fact seizures.  We also decided to do Genetic testing after this, but knew it would take a while for the results.  While we were waiting (months) for the results, we also saw a Developmental Neurologist who diagnosed Jack with Autism….then 2 months after that we received our answer that Jack had SYNGAP1.  

Receiving the diagnosis was a whirlwind.  We were relieved to have an answer, but sad and scared for all of our future, especially Jack’s.   Jack is one of the sweetest boys, and while he is still nonverbal, he is very opinionated, especially when he doesn’t get his way! His favorite things include music, playing with light up toys (and now shutting the lights off to play with them in the dark), water (of course!), his stuffed animals, and he adores Ms. Rachel.  He’s really started to enjoy books which is fun to see!  Jack loves being outside and jumping on the trampoline (which is tricky in the winter), swinging on swings, and even riding his sister’s horse with her.  Jack’s older sister Ava (7 years old) is very helpful and they enjoy each other’s company (most of the time at least!).  We are so grateful to have such supportive friends and family who love Jack and will be with us every step of the way through his journey.  Jack has made us appreciate the small things in life, and really enjoy those things in life we used to take for granted.