Reflecting on 10 Years of The Cute Syndrome Foundation

5/3/2023

Ten years ago, when I started TCSF my daughter Esmé was seizing on average 15 times a week and struggling with extreme medical fragility. Her precarious health meant that nearly everything in our lives had stopped. She and I would spend days out of every week in bed with her sleeping, waking only to seize. It was in this position, pinned in place both figuratively and literally, that I started the foundation. And in all honesty, it was as much of an effort to cast toward some hope of helping Esmé as it was a way for me to maintain my sanity through some seemingly impossible days.

At first the vision was just to tell my daughter’s story and raise some limited funds for research. Both things turned out to be more complicated than I thought. First, Esmé’s genetic diagnoses continued to evolve, moving us through several communities—as she was both over and under diagnosed. Second, understanding what kinds of research best serve a community as it evolves quickly from being entirely uncharacterized to looking toward potential precision treatments, has proven to be an intriguingly complex problem to solve.

The thing that did not turn out to be complicated was the love I feel for this community, and the connection that persisted, even as my daughter’s diagnosis evolved to exclude SCN8A.

I am honestly in awe of the things that this foundation has managed to achieve in a decade:

Raising over $1 million
Supporting 457 families in 48 countries
Combining efforts with the SCN8A support group established in 2014 by Juliann Bradish
Helping fund nearly $500,000 in scientific research grants
Receiving 6 grants totaling over $50,000
Supporting TCSF community events and support programs in excess of $255,000
Collaborating closely with the development of two clinical trials currently enrolling in the SCN8A community
Working with over 30 volunteers to help us achieve advocacy goals, all of whom are immediate relatives of individuals with SCN8A
Engaging the community to impressive results—from 77% response rate in the cross-sectional survey to inform the design of our first clinical trial, to enrolling a retrospective natural history cohort at Ciitizen in under 6 hours

This is a lot for a group of people to achieve. And make no mistake, it may have begun with me and Esmé, but TCSF has only made the strides it has with a team and by working with the community—earning trust, evolving our efforts in response to the rare disease landscape, and following this community’s lead. As I have stepped away from my role as director and now serve as Board Chair, it has been a tremendous point of pride that this organization has continued to thrive and evolve without my daily involvement.

It is also true that knowing that TCSF was created out of those painful early years of Esmé’s life—and knowing all the good it has contributed to—has given me such a sense of purpose all these years…and for that I am filled with gratitude to this organization and the community that has made it what it is today, ten years later.

Hillary Savoie
Founder and Board Chair, The Cute Syndrome Foundation

Hear from 9 more of the first support group families below as they share about how TCSF and the SCN8A community have impacted their lives.