EMILY

  • Born: March 2
  • |  De Novo Missense Mutation

Hi, I'm Emily.

My special talent is keeping secrets and bringing a smile to people's faces.

I love school and I attend most of my day in a regular education setting. I live in Minnesota with my: mom, dad, sister Isabelle and dog Tito.

As a result of a mutation of the SCN2A gene I have a diagnosis of migrating partial epilepsy of infancy (MPEI), autism, neuropathic pain, dystonia, dysautonomia, cortical visual impairment (CVI) and I am non-ambulatory and non-verbal.

I love to swim, enjoy adaptive bi-skiing in the winter time, music, roller-coasters, and flying through the air in my circus class! I believe in 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!