Liz Dellureficio: President of Snap25 Foundation
Our beautiful daughter developed epilepsy at 5 months old. Seeing your infant having seizures is a soul crushing experience. We had no answer as to why the seizures and other issues were happening, but I never gave up trying to find out. Finally, when she was 15, whole exome genetic testing became available. A diagnosis of a de novo mutation in the SNAP25 gene was found to be the cause of her epilepsy and other issues. Our daughter was the first to be diagnosed with this, so there was no community to join, and no targeted treatments to try. I immediately got to work and started googling SNAP25. I reached out to several scientists who were incredibly generous with their time in educating me about what a SNAP25 mutation could do.
For a couple of years, no other patients were found. I started a Facebook group and slowly several other parents found their way to it, which was a joy to connect with others. I kept up my internet outreach with scientists, and now there is research happening world-wide, that we as an organization would like to support.
Professionally I have worked as a Film and Television Post Production Producer and Editor for the past 30 years. My main job of course, is loving and taking care of my wonderful daughter, who is the light of my life.