Our Mission: The Cute Syndrome Foundation raises awareness of SCN8A mutations, funds the dedicated and talented scientists researching SCN8A, and supports the families around the world who are affected by this disorder. The Cute Syndrome Foundation also has a history of funding PCDH19 research.
Our Vision: The Cute Syndrome Foundation is the starting point for support for new families to reach as they receive a diagnosis. We help clinicians standardize treatment for individuals with SCN8A. We work to expand scientific knowledge of rare genetic mutations associated with pediatric epilepsy and remain the mainstay foundation to increase public knowledge of SCN8A mutations as well as rare genetic mutations and pediatric epilepsies.
Our History: The Cute Syndrome was a term used by TCSF founder, Hillary Savoie to describe the suite of symptoms that her daughter Esmé had since birth. These symptoms are now presumed to be caused by as many as four separate genetic mutations, including PCDH19, SCN8A, TBL1XR1, and MAP 3K7, which were discovered over several years of genetic testing. Hillary founded TCSF upon Esmé's first diagnosis of PCDH19, and later expanded the mission to include SCN8A, which is now the primary focus of the foundation.