TCSF's 2nd Annual SCN8A Epilepsy Clinician, Researcher, and Family Gathering on Friday December 2nd, in conjunction with the American Epilepsy Society Conference in Houston Texas
The Cute Syndrome Foundation held our second annual SCN8A Epilepsy Research, Clinician, and Family Gathering on Friday December 2nd, in conjunction with the American Epilepsy Society Conference in Houston Texas. For the second year in a row we hosted over 100 SCN8A clinicians, researchers, and family members for an event built around sharing clinical information, research data, and family stories -- and the idea that these three groups can work together and help inform each other.
Thanks to the support of four generous sponsors: Xenon Pharmaceuticals, the Rare Epilepsy Network, Pairnomix, and Upsher-Smith we were able to offer a four-hour dinner meeting that cycled through clinician, researcher, and family presentations. We also enjoyed a family hour with members of our family support group before the meeting so that the community could spend some time getting to know each other in real life. Like last year we went over our scheduled time...and yet again virtually the entire audience stayed glued to their seats. We had some wonderful feedback from attendees as well as suggestions for our meeting next year--which will be in Washington DC.
Our speakers included Michael Hammer, PhD, University of Arizona and founder of the SCN8A Registry, Andrew Tidball, PhD, University of Michigan, Manoj Patel, PhD, University of Virgina Health System, Paul Goldberg, MBChB, PhD, FRCPC, Xenon Pharmaceuticals, Mandy Harris, MD, Riley Hospital for Children of IU Health, Phillip Pearl, MD, Boston Children's Hospital, Elizabeth Donner, MD, FRCPC, The Hospital for Sick Children, and Tracy Dixon-Salazar, PhD, CURE
We were thrilled to hand out a series of awards called the CUTIES--Champions for Understanding, Treating, Investigating, and Empowering those with SCN8A mutations. We gave out three awards, one to a clinician, one to a researcher, and one to a family-member. Our first award went to Dr. Manoj Patel for being a champion in Investigating SCN8A. We have had the opportunity to interact with a number of amazing researchers over the years and we’ve also had the opportunity to offer grants for research. Dr. Patel has not yet has his work funded by the Cute Syndrome Foundation, but has collaborated on many SCN8A projects including Dr. Miriam Meisler’s vital SCN8A research which TCSF helped to fund. He has also been such an active participant at every SCN8A event, and we are thrilled to acknowledge him for his engaged and collaborative efforts for SCN8A research.
Our second CUTIES Award recipient, Dr. Mandy Harris for being an outstanding SCN8A clinician, a champion in treating those with SCN8A. Dr. Harris has helped to set the standard of care for patients with SCN8A, going above and beyond by exploring out of the box treatments to directly and indirectly improve the quality of life for many SCN8A patients. She personally treats four SCN8A patients and has consulted on a dozen cases. She is The Cute Syndrome's SCN8A Pediatric Neurology Consultant. She consulted on our clinician reference guide and has assisted SCN8A families and their physicians. Dr. Harris is a true role model for clinicians and an advocate for individuals with SCN8A and their families.
Our third CUTIES Award recipient is an outstanding family member, a champion in empowering those with SCN8A: Jessica Jenkins and her son Dustin Jenkins Eid. I met Jessica last year in Philadelphia, where she attended our gathering with her son, Dustin, and all four of his grandparents. I was struck by her tremendous poise, by the love that was so evident between all of them, by the sweet joy I saw in her son’s eyes. She was in school for graphic design and when she offered to volunteer for us as a graphic designer, we gratefully accepted. She redesigned our logo and helped with a number of graphics projects over the last year—including the Faces of SCN8A Banner which she put together with another SCN8A mother, Merily. When Dustin entered the hospital in September and it became clear that he might not recover Jessica and I were in touch quite a bit—I saw in her that strength that was earned caring for Dustin as he fought through so many impossible moments, moments that no child and no mother should have to experience. Dustin passed away on September 17th not long after celebrating his second birthday. As Jessica dealt with the pain of this unbearable loss, she has continued her commitment to the SCN8A community with such grace, because she feels that she can continue to fight for Dustin as she helps us fight for all children with SCN8A.
Thank you again to everyone who helped make the night a success: Our speakers, our volunteers, the clinicians and researchers that took time out of their busy American Epilepsy Society Conference schedule to attend our gathering, and our sponsors: Xenon, Rare Epilepsy Network, Upsher-Smith, and Pairnomix. Thank you especially much to the families that traveled to Houston just for this event!
Watch the SCN8A Clinician, Researcher, and Family Gathering Video
Photo Credit: Ryan Collerd