​​​About the Cute Syndrome Foundation

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.

Learn more about what we have done…

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. 

Check out our SCN8A Information Sheet here

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 mutation? Join our SCN8A family group ...

Where did the name "The Cute Syndrome" come from? Check out this blog post...

We are a volunteer-run organization — Learn more about our volunteers here

Thanks to our generous sponsors, partners, and support from individual donors, The Cute Syndrome Foundation has been able to implement a wide variety of programs for the SCN8A community and help fund almost $500,000 in grants for SCN8A research.

Community

Family Support Group

This private, international support group is open to parents and caregivers 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

Clinician Reference Guide

Discover clinical wisdom about SCN8A from physicians with experience treating this rare disorder​.

Caregiver Support

TCSF hosts several support programs such as grief recovery, life coaching for special needs parents, and more.

Virtual Webinars and Events

TCSF offers a variety of educational video series to help caregivers and families to navigate their loved one’s SCN8A diagnosis. 

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

Nearly $500,000 in research grants for SCN8A has been funded or co-funded by TCSF since 2015.

Travel Grants

A number of travel grants are awarded to immediate family members of those with SCN8A mutations to help cover travel expenses for the Annual Gathering.