On November 30 and December 1st The Cute Syndrome Foundation held our fourth annual SCN8A Clinician, Researcher, and Family Gathering, in conjunction with the American Epilepsy Society meeting in New Orleans, LA. We were joined by more than 100 medical professionals, industry representatives, and family members as we presented two days of important activities—including discussions of SCN8A research, forthcoming potential therapeutics, and parent/patient perspective.
This event would not be possible without our stellar volunteer team that headed up the efforts this year, our generous 2018 event sponsors Praxis Precision Medicines, Xenon Pharmaceuticals Inc., Zogenix, Greenwich Biosciences, and the Epilepsy Foundation. Thank you as well to our event co-chairs Manoj Patel, PhD and John Schreiber, MD. With their help, we all gathered around our shared goal of improving the lives of individuals with SCN8A mutations. For those of you who couldn’t be there with us, we would like to offer some takeaway points and several highlights from the Gathering.
First, we'd like to introduce you to our event keynote speaker, 15 year old Emma Johnston and our official SCN8A Youth Ambassador and Patient Advocate. Emma set exactly the right tone for the Gathering--reminding us all exactly why we were there: to help those with SCN8A. Emma asked to speak at the Gathering because she knew that so many children with SCN8A cannot speak--and that she wanted to be a voice for them at our Gathering. There is no one better to speak on behalf of those with SCN8A, than someone with SCN8A.
1. CONNECTIONS: The idea behind this Gathering is to provide an opportunity for clinicians, researchers, and families--each a type of expert in their own right--to share knowledge together in ways that can inform their decisions moving forward in support of the SCN8A community. As ever, these interactions yielded some amazing results.
2. DISCUSSIONS: At the conclusion of the Gathering, one of our volunteers said, "They aren't leaving!" She was right, all around the large room were clusters of parents, clinicians, and researchers talking about SCN8A, asking each other questions, and making plans! We love to see this kind of enthusiasm!
3. INFORMED HOPE: With two biopharmaceutical companies at the Gathering presenting their potential therapeutics for the community, our community is feeling more hopeful than ever. We are also well-positioned to understand what it means for a community to look toward at clinical trials--and the path to get a therapeutic to market.
4. SUBTLETY: We saw a number of presentations of research that is digging into the important distinctions between mutation variants within the gene as well as the potential for multi-gene involvement. This will lead to a clearer understanding of SCN8A mutations and their potential treatments.
5. INTEREST IN OUR COMMUNITY: This year we had more sponsors than ever, supporting at higher levels than ever. This shows that there is a strong interest in the work we are doing through this annual meeting and, in general, in the SCN8A Community
At the gathering we also honored two important individuals in the SCN8A community who are rising to the opportunity to work collaboratively to improve the health and safety of those living with SCN8A with CUTIES, our annual awards for Champions for Understanding, Treating, Investigating, and Empowering those with SCN8A.
Our first recipient is JP Johnson, Jr., PhD of Xenon Pharmaceuticals Inc. JP has been a champion in Investigating SCN8A for many years now. We selected him for the award because of his focus on not only pursuing a high level of excellence in scientific research, but also in helping the families in our SCN8A community understand that science.
Our second recipient is SCN8A family member, TCSF Volunteer and SCN8A Mom, Dianely Cabrera. Dianely, was one of our very first volunteers at the Cute Syndrome Foundation. She is raising one of the more fragile children in our community, and her son has faced an unbearable number of hospital stays this year. However, as ever, she trucked along, completing tasks from his bedside in the PICU. We are proud to celebrate Dianely for her amazing ability to turn the extreme challenges her son faces into an advocate’s focus!
Congratulations JP and Dianely!
In the weeks leading up to this years Gathering we lost two infants to complications resulting from their SCN8A mutations. These losses have made it painfully clear to us as a community that clinical care for children with SCN8A needs to improve, and we need more clinicians to be active in our community, more clinicians to collaborate with Dr. Schreiber in his efforts to serve as a consulting physicians on SCN8A cases, more clinicians to talk to their colleagues about how to treat (and how not to treat) individuals with SCN8A.
So, this year, instead of awarding a clinician's CUTIES, we have issued a call to clinicians: Make this CUTIES yours next year.
The most important take away from this gathering of the SCN8A community was the truth that was reflected in the faces of the families in attendance this year: We are #SCN8AStrong. We will continue to work hard, and we will not let go of hope for all of our children.