Kai received his SYNGAP1 diagnosis October 30, 2020. Our questions had finally been answered, but the answer was one we never imagined. Kai’s diagnosis came from a genetic epilepsy panel which was conducted after seizure activity was confirmed by an overnight EEG in May of 2020. Unfortunately for Kai, his seizures have yet to be controlled by medication. Kai has myoclonic, atonic and ansense seizures. He currently takes 4 different anti-seizure medications. On a good day Kai will have anywhere from 3-5 seizures an hour. On a bad day it’s closer to 10-12 an hour. For Kai though, everyday is a good one. He is the happiest, silliest, and sweetest boy. His infectious laugh and heart melting smile will put a spell on you every time!
Similar to many other Wednesday Warriors, Kai’s journey to a diagnosis of SYNGAP1 began with an unmet milestone. For Kai it was his lack of interest in eating, as well as what seemed like a struggle to chew and swallow. At 8 months old, our pediatrician recommended reaching out to an early intervention program. Kai has been working with that program ever since. At the end of this month we are hoping to transition Kai into our county’s PreSchool Special Education Program, also known as PEP. Just a couple of months ago Kai was able to begin his first in-person Physical Therapy. He absolutely loves it! We are hoping to begin in person occupational and speech therapy as well.
Kai loves cars, guitars, water, learning sign language and animals (especially his fur sibling). I’m still trying to get over the fact that Kai can clearly say and sign "kitty cat" but "mama" only seems to emerge from a cry. Of all of Kai‘s favorite things, number one is people! Especially his people; incredibly loving and supportive grandparents, uncle and aunts. The two coolest cousins a kid could ask for and the best big sister to always look up to. Kai absolutely adores his older sister Rylan. They spend their summers together splashing around, building forts and playing hide and seek.
Kai continues to make progress even though his seizures try to hold him back. He is already so determined and strong willed and he is only almost 3! He brings so much joy to every life that he touches and the world is a brighter better place because he is in it!