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.
About Us
About the Cute
Syndrome Foundation
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 are the mainstay foundation to increase public knowledge of SCN8A mutations.
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 in 2015 expanded the mission to include SCN8A, which is now the primary focus of the foundation.
Do you or your child
have an SCN8A variant?
Community
Family Support Group
This private, international support group is open to patients, parents, and legal guardians of those with an SCN8A diagnosis.
Cute Connections Events
TCSF awards a number of grants each year for SCN8A community members who would like to host an SCN8A family meetup in their area.
Annual Gathering
Since 2015, TCSF has hosted the SCN8A Clinician, Researcher, and Family Gathering, which is held in conjunction with AES.
Resources
Patient & Caregiver Support
TCSF hosts monthly opportunities to learn and connect with other SCN8A families.
Video Library
TCSF offers an extensive educational video library to help patients and caregivers navigate an SCN8A diagnosis.
Resource Library
We have compiled many different resources to help you on your SCN8A journey.
Grants
Patient Assistance Grant
The Connor James Smith Patient Assistance Grant offers financial assistance to patients with a confirmed SCN8A diagnosis for necessary medical items.
Research Grants
Over $500,000 in SCN8A research grants have been funded or co-funded by TCSF since 2015.
Travel Grants
Each year, travel grants are awarded to SCN8A patients and immediate family members to help cover travel expenses for the Annual Gathering.