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North Carolina, USA
5 years old
February 12, 2020

Kailyn

Kailyn, Kai for short, was diagnosed with SynGAP1 in December 2019 at the age of 4. Although getting the diagnosis was difficult news to grasp, it also provided relief in the sense that we now had the answer to what causes her symptoms. After her first birthday, Kai started having extensive meltdowns as well as compulsive aggressive and intense self-injurious behavior. Soon after, she began having what we now know are myoclonic seizures. At 3.5 she was diagnosed with generalized epilepsy. Her events are classified as myoclonic and atonic. Up until recently, she suffered ~200 episodes daily. After lots of tinkering with medication, her clinical seizures have subsided; only just in the last several weeks. We are cautiously ecstatic! Kai is also diagnosed with autism, severe apraxia, and global delay as well as being faced with hypotonia and ataxia.

We recently celebrated Kai’s 5th birthday! Despite her challenges, Kai is fun-loving and has a magnetic personality. She LOVES activities involving lots of sensory input including water and swimming, sand, and loud music/musical instruments. She is thrilled by the lawn mower, motorcycle, airplanes, and other construction vehicles. What Kailyn lacks in verbal communication she makes up for with dramatic facial expressions, endless high-fives, and a captivating smile.

Although Kai will continue to face obstacles surrounding her speech, coordination/strength, and behavior, we are incredibly hopeful to see what the future holds for her and all of our precious Syngapians.

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