Today a blog post on Scientific American told the story of how families affected by SCN8A mutations are coming together to help push forward research agendas for SCN8A. Several of the amazing family members and researchers working toward a better understanding of SCN8A Epilepsy are featured in the article--including TCSF's Founder and Director Hillary Savoie and her daughter Esmé:
Yet doctors sometimes come to the wrong conclusions. Hillary Savoie’s daughter Esmé was originally diagnosed with a mutation on a different gene called PCDH19. Hillary created a foundation to raise money for PCDH19 research and then learned that her daughter also has an SCN8A mutation.
“She was always different from the other PCDH19 children,” says Hillary. “We just didn’t know why.”