GIANNA

  • Born: October 14
  • |  De Novo Frameshift / Protein Truncating Mutation

Hi! I'm Gianna from New York.

I love, Elmo, playing peek-a-boo, popping bubbles, singing, books, and splashing in my dogs water bowl (even though my parents try to stop me).

I live with my Mom, Dad, younger brother and dog, Nugget!

In my case, the SCN2A mutation has caused Global Developmental Delay, Hypotonia, Intellectual Disability, Sensory & Auditory Processing Disorders, Benign Shuddering spells, as well as many Autistic tendencies. However, I am not believed to be on the spectrum and I’ve never had a seizure. I am currently non-verbal, but I’ve started making promising sounds and gestures.

At 6 months old, I began receiving numerous therapy sessions and am currently in 17 a week! With all that hard work, I’ve made great progress. I just started attending a toddler development group run through the New York State Early Intervention Program. I’m learning so much thanks to my amazing teachers and 1:1 aid!

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!