• Born: July 6, 2016 | Variant: C. 4916T › C

Hi, I'm Sabin from San Felice Circeo (LT), Italy.

I love to be pampered and in the center of attention. My whole world is my Mommy.

Hi everyone. I'm Sabin, I'm 4 and a half years old and I live in Italy. I struggle to live from the first day of life. I really want to live and be close to mommy and daddy who love me so much. I suffer from a rare disease called polymicrogyria, microcephaly, spastic dystonic tetraparesis, drug resistant epilepsy, dystonias and 6 months ago I discovered that all this is due to the de novo mutation of the SCN2A gene. I take 4 antiepileptics and 4 muscle relaxants. Lately, the epileptic seizures are quite under control, but I have many dystonias and dystonic fits, and for this we try to find a cure at the Bambino Gesù hospital. I am happy to be part of this yours big family. My motto is: life always smiles, despite everything. A big kiss to everyone.


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!