Kiera

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2.5 years old
New Jersey, USA

Kiera is 2 1/2 years old from New Jersey and was diagnosed in November 2021. Kiera was delayed developmentally starting around 5 months old and we were referred to CHOP after initial bloodwork showed indicators of muscle issues. It was there after doing additional tests, MRI’s, and deeper genetic testing where we found out she had Syngap1. It was difficult to digest, and honestly still is but we try to focus on how to help Kiera instead of what difficulties might lie ahead.

Currently along with Syngap1, Kiera is also diagnosed with epilepsy, hypotonia, global developmental delays, and autism. She currently is non verbal, does not walk on her own, and is very dependent on us to do everything for her. However this kid is in every therapy possible and shows up and works hard at all of them so we know it’s only a matter of time where we just continue to see more and more improvement in Kiera’s skills. We call her our unicorn – just when you think she’s not progressing, like magic she does!

Kiera loves the water, Cocomelon, and anything with the fisher price puppy on it. She is affectionate, sweet, funny, very aware, and for a girl who doesn’t speak, has a lot of spunk to her! Her looks let you know exactly how she is feeling even though her words cannot. Kiera brings so much joy to our lives and everyone around her feels that joy too. She has taught us to slow down and look at the world in a different way, and even though it is hard given the circumstances of Syngap1, that in itself is a gift in its own way. 

Our hope for the future is that we continue to strive towards a solution to help our kids have a better quality of life because god knows they all certainly deserve it.