Cole says "hi" from Ohio! He is 5 years old and our middle child with an older brother and baby sister. He was diagnosed with SYNGAP1 in 2019 when he was only 2 years old. Around 7 months we started noticing some delays. He had a lot of trouble with solid foods and he wasn't meeting some of his gross motor milestones. He would sit, but he wouldn't push to hands and knees, or point to things. In fact, for a long time when he was on his tummy he wouldn't use his arms at all...he would hold them straight back behind him like a penguin sliding on ice.
We initially did feeding therapy and PT, and eventually had an autism screening which led to an autism diagnosis. This opened up a lot more opportunities for therapies and we added speech, OT and ABA to the mix which was a lot for such a little guy. After about a year of therapies he was diagnosed with SYNGAP1 and had his first EEGs. It was a really hard time for the whole family - seeing your 2 year old put through so much testing and stress is not something that you plan on when you become parents. Though Cole is not currently having seizures, he is non-verbal and has severe tantrums and self-harming behaviors.
Cole's behaviors do make life challenging sometimes, but we try to normalize as much as we can and work through it. He is surrounded by people that love him - besides mom and dad, his older brother Graham is a huge help, and baby sister Jade loves "Coley". We couldn't ask for better grandparents for our kids and Bapa and Nonnie are 2 of Cole's most favorite people!
Cole loves to swim, watch Disney movies on his ipad, play chase, and go on walks with dad. He would be happy getting tickled or swinging upside down for hours, and never passes up an opportunity to lick a new texture! Recently he has started holding my hand without pulling away and it melts my heart. We are hoping one day to hear his voice, but no matter what, he will always be our little boy and we will love him unconditionally. With a smile like that, who wouldn't?
We can use your help to raise awareness about SynGAP1.