Arizona, USA
8 years old
February 26, 2020


Colette was diagnosed with SYNGAP1-related NSID in 2018. She received an early autism diagnosis in 2014 and we just “knew” that there was going to be more to her story. We saw a lot of things we’ve since learned are extremely common among others in the community: delayed/non-existent verbal communication, absence seizures, low muscle tone, and so on. Getting the results of her genetic testing was a huge relief - we could finally put a more definitive name to her experience.

Colette is nonverbal but does use a combination of echolalia, gestures, sign language, and a speech app on her iPad to communicate. Luckily, she successfully controls her absence seizures with medication. Colette has a stubborn streak and thrives in familiar environments like many other kids we’ve learned about.

Physically, Colette has the low muscle tone and lack of coordination you might expect. Her pain tolerance is through the roof! She has broken her arm, split her forehead open, and taken countless tumbles over the years but we’re hard-pressed to remember a single time she has cried from pain. Tough doesn’t even begin to describe her.

Colette spends a lot of time in her many therapies: OT, speech, HAB, music, equine, and the list goes on. We’ve learned to celebrate her progress every step of the way. What might seem small to a “typical” family is often an enormous achievement for her.

Despite her challenges, Colette is a good-natured kid. She enjoys spending time with her family and can be incredibly affectionate, especially with her brother (even if he’d rather her not sometimes!). She’s very friendly with all of her therapists, teachers, and friends. She loves music, movies, and rollercoasters.

Thanks for reading about our kiddo - we’ve enjoyed reading about all of yours.

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