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.

Everything in 2020 felt different, didn't it? This year The Cute Syndrome Foundation's 6th Annual Clinician, Researcher, and Family Gathering was no exception...as we moved forward with a fully virtual Gathering. 

While we have always offered live streaming of the event for our families who cannot travel, this year we focused on creating a virtual gathering experience that increased the opportunities for interaction and a sense of connection. We certainly missed seeing one another in person. And we all we all know that the experience of being present together, of wrapping our arms around someone we've only ever known on Facebook, of playing with each other's children is entirely irreplaceable. 

Have you ever wondered what TCSF is? Where did it come from and who started it? With so many new faces in the community it was time to catch up with The Cute Syndrome’s Founder/Director, Hillary Savoie, as she talks about the foundation and life as a special needs parent. 
       -Heather Crowley
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Q: Can you tell me a little about yourself?
A: I’m Hillary Savoie. I live in upstate NY, near Albany. I’m the founder and director of The Cute Syndrome Foundation (TCSF). I’m also an occasional writer and I have a doctorate in Communication and Rhetoric. More importantly I am mom to Esmé--a super cute, funny, smart nearly-ten-year-old girl who has multiple genetic mutations (in order of discovery): PCDH19, SCN8A, TBL1XR1, and MAP3K7.

​Last year Luke Pitino, who was diagnosed with SCN8A epilepsy in his first year of life, and his family raised $71,000 for the Epilepsy Foundation of Metropolitan New York (EFMNY) and The Cute Syndrome Foundation (TCSF) during the Annual Walk to End Epilepsy! This effort established a fantastic and on-going fundraising partnership between EFMNY and TCSF.
 
This year Luke and the Pitino family are at it again!

TCSF believes that one of the most important things we can do to help prepare our community for any and all clinical trials focused on the SCN8A community is to help ensure that our families are informed on how clinical trials work—as well as on general drug development, the ethics of patient data collection, and the variety of potential future therapies. This Clinical Trial Readiness Series will bring together panels of industry professionals, clinician researchers, and other rare epilepsy advocates to discuss these important details. 

In June The Cute Syndrome Foundation received a Rising Tides Grant from Child Neurology Foundation to lift a social and emotional support program off the ground. This program has included zoom yoga and family martial arts classes, food and drink discussion group, a book club and access to meal kits, mindfulness app subscriptions, and gift cards for yoga mats, books, etc. We knew this programming would be meaningful. However, as we dove into it, we began to realize just how much our community needed this—to feel supported, engaged, and connected. Also, simply, to have a bit of fun in the midst of everything. 

We are so grateful to Child Neurology Foundation for not only making this program possible, but doing so in a way that allowed us to quickly and flexibly respond to our community’s needs in real time. Here are two examples of how we were able to do use the funding, and what that gave the community.

The Cute Syndrome Foundation has received a fantastic impact report from Dr. John Schreiber at Children's National on his clinical research which we funded in 2019. This research focused on how to improve access to quality care for individuals with SCN8A. TCSF invests in scientific (both bench and clinical) research to better understand SCN8A generally--but, of course, that information is only as good as it's actual impact on the lives of our loved ones--better treatments, better outcomes, better quality of life!

When we decided to fund this grant to Dr. Schreiber, it came from a place of frustration that we had known some important basic information about best practices for pharmaceutical treatment for individuals with SCN8A, but that information was not always making its way to the clinicians who treat our children. So, we funded Dr. Schreiber's work to better understand why that was the case--and to advise on what could be done to change this, and quickly! 
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Here is the full report of his results. We are grateful for Dr. Schreiber's dedication to our SCN8A community and that we are able to fund this kind of import research!