• De Novo Mutation

Hi, I’m Eva and I am from Sydney, Australia.

My favorite things to do are eat food (mostly red meat), smile, giggle and just be cheeky.

I love mummy and daddy but I especially love cuddles. Don’t ever enter a room without saying hello to me and giving me a kiss.

I have a diagnosis of Epilepsy from day 3 of life, dystonia, severe developmental delay and CVI.

I am working very hard to be my best and my physio thinks I am killing it!! I get my new walking frame next year in Raspberry colour and it has a unicorn on the front. Once I recover from my hip dysplasia surgery early 2018 I’m off and racing. Just try and stop me!

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!