QUINTIN

  • Born: January 29
  • |  De Novo Splice Mutation

Hi, I'm Quintin, but everyone calls me, "Q".

I love spending time with my family and classmates. I especially love swimming in the therapy pool at school, listening to stories, and dancing to music!

I live in New York with my mom, dad, and two older brothers, Robert and Aedan.

As a result of my SCN2A gene mutation, I'm Intellectually disabled, have epilepsy, microcephaly, apraxia of speech, hypotonia, dysautonomia, and global motor delays. Despite all of these challenges, I never give up...Hope!

Our goal is to find a cure!

Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone!