On December 5th in Philadelphia about 85 guests--including seven children with SCN8A, 35 family members, and over 50 researchers and clinicians--met for the Cute Syndrome's first SCN8A Epilepsy Clinician, Researcher, and Family Gathering. The meeting allowed parents of children with SCN8A to tell leading researchers and clinicians more about their children and their lives. The meeting also served as a venue for clinical data about effective treatment of SCN8A to be shared among clinicians, and for researchers to share their research with the families--and each other.
It was also a way for us all to meet as people—who share a hope for the SCN8A community.
Speakers included Dr. Michael Hammer (University of Arizona), Dr. Ingrid Scheffer (University of Melbourne), Dr. Miriam Meisler (University of Michigan), Dr. Alan Goldin (University of California, Irvine), Dr. Philip Pearl (Boston Children's Hospital), and Dr. Mandy Harris (Indiana University, Riley). Cyndi Wright, Director of SUDEP Initiative, also spoke about the risks of Sudden, Unexplained Death in Epilepsy--a risk that has been reported to be especially high within the SCN8A population.
The meeting also provided the chance for a number of parents to tell their children's stories and talk about their hopes for their children's futures. The Cute Syndrome Director, Hillary Savoie, and SCN8A Advisor, Juliann Bradish--both parents to children with SCN8A mutations--were joined by several parent speakers: Karen Varner (Mother to Lily), Mackenzie Wardrope (Mother to Adelaide), Sandy Bush (Mother to Cameron), Daniel Braz (Father to Rafael), and Dianely Cabrera (Mother to Maximuus)
Dianely Cabrera closed the parent speeches by beautifully summing up the feelings of all parents in the room. She said, "My son is a prisoner to [SCN8A] and I pray everyday for his release. He is waiting for mommy and daddy to save him from his dark prison, but unfortunately we do not have the answers yet. Maybe there will come a day where someone at this amazing gathering will help us to find that answer. Until then, I will continue fighting to save my heart, my soul, my Max."
Photo Credit: Ryan Collerd