Many rare epilepsy leaders were at the 2022 Global Genes conference recently. As I was listening to replays from home, I was struck by the number of times rare epilepsies and their leaders were shouted out. Luke Rosen for his leadership, Bo Bigelow for cofounding Disorder Channel and The Rare Disease Film Festival; Mike Graglia in regards to a RUSH (music) reference; Angelman Syndrome as a disease that had early genetic testing in a talk on diagnostic odysseys. Many more references I am sure as well. It will not be a surprise to our rapidly growing community how dominant epilepsy and seizures are as part of the complex of rare and complicated disorders globally.
I am slowly working my way through the content but a few resources were too good not to mention. Check out Once Upon A Gene a podcast by Effie Parks and Emily Rapp Black's books on living with rare, friendship, and loss. Emily's talk on friendship led me to proud reflections on this community and especially the generosity in sharing support, resources and knowledge. Recently the list-serve has fielded engaged discusses around registries, repositories, brochures, and much more. This exchange is at the heart of REN.
And speaking of rare epilepsy collaborations – check out a series of interviews on Perspectives from the Journey of the Patient With Rare Epilepsy with Tracy Dixon Salazar and MaryAnne Meskis on Neurology Live. Additionally, kudos to Bina Shah, Yssa DeWoody and Vanessa Vogel-Farley for their collaboration on CNVs and the publication of a recent article and roadmap– inspiration for other cross disease collaborations.
Our community is comprised of many disorders. REN urges you to mark your calendars for a series of conversations this fall organized by the Epilepsy Leadership Council. Over the last 5+ months nearly 50 people participated in 36 task force meetings, hearing from guest speakers, and discussing gaps and opportunities related to the recommendations in the 2012 IOM/NAM Epilepsy Across the Spectrum report. The ELC will be hosting 3 online forums to hear from the task forces and talk about their work. Each task force will share what they learned in their research, their ideas for where we can go next as the ELC, and a 10-year vision for the epilepsy community. Your participation and voices are critical. Sign up below:
Finally congrats to recent Rare Is Global Advocate award winners including: Koolen-de Vries Syndrome, Chelsea’s Hope Lafora Children Research Fund, LGS Foundation, Malan Syndrome Foundation, RASopathies Network, The SHANK2 Foundation, SCN2A Asia-Pacific.
Where else are YOU raising awareness of rare epilepsies? Let REN know.
The REN Coordinating Committee
PS: MEMBERS ONLY: Our next mtg is Sep 26th at 1 PM ET.
