A Countdown of Seven Actions to Support SCN8A Children and Families
February 20, 2017
Helping families find the critical information and support they need
December 11, 2019
July 23, 2018
It's just incredible! It’s been just 4½ years since we started Wishes for Elliott. And today, we are ecstatic to report that with the help of many supporters and a now robust scientific community, Elliott’s wishes have begun to come true! We were thrilled to have been invited to join the Dravet Foundation’s incredible biennial family and scientific meeting this weekend in Denver. The work of the foundation is just phenomenal and one of the many successes due to their advocacy and support for research, was the clinical trials that led to the recent FDA approval for Epidolex. At the conference, a number of scientists also recognized that the work of Wishes for Elliott (i.e. grants to 4 post-docs, hosting scientific conferences and bridge funding for mouse model development) has indelibly contributed to the burgeoning science of SCN8A, bringing hope for better treatments to all children struggling with sodium channelopathies. Our efforts, along with a number of other family groups, clinicians and researchers, have contributed to two upcoming Stage 1 clinical trials for SCN8A by two separate pharmaceutical companies.
Four and a half years ago, we were just beginning to confront how profoundly debilitating Elliott’s newly identified SCN8A mutation would be on every aspect of his life – and ours. After many months of many invasive and scary tests, the long awaited “diagnosis” of an SCN8A genetic mutation came with NO answers. We were heartbroken that the nascent state of the science of SCN8A provided no meaningful guidance for Elliott’s treatment or prognosis. The 12 known cases in the world at the time provided clues that his seizures would remain largely unresponsive to available treatments and that early death was very possible. The “crap-shoot” of treatments continued and Elliott was enrolled in a hospice program (which unlike adult hospice does not preclude ongoing treatment).
To try and deal with the hopelessness and our inability to truly help Elliott, we were inspired to “do SOMETHING” and formed Wishes for Elliott.
The theme of focusing on Elliott’s “wish” came from our mistaken notion that Elliott was so sick and unresponsive that he would never qualify for a “Make a Wish” grant. After some brainstorming, we inferred that Elliott’s wish – if he could tell us – would be that in the future, kiddos like Elliott and their families should have more answers and hope for meaningful treatment and increased quality of life.
So, our single mission for our efforts through Wishes for Elliott has been to accelerate the pace of the science of SCN8A.
We are proud that our major success to date include:
hosting the very first meeting of SCN8A researchers and clinicians in 2015 leading to a published “consensus” document of the current understanding of SCN8A and research directions;
contributing to the critical efforts to build a Registry of the conditions and experiences of SCN8A children;
publication of the first chapter on SCN8A in the preeminent Gene Review for clinicians who often have no familiarity with distinct issues associated with SCN8A;
partnering with AES to fund the work of 5 promising post-Docs over the past 3 years , following a rigorous peer-review process, including the most recent granted in June 2018; most have their work pending publication;
support for the Partners Against Mortality in Epilepsy conference this May, helping to provide research and collaboration seeking to reduce the tragically high mortality rate in many of the rare epilepsies;
support for novel advances in a mouse model used for completing research during 2018 which could more accurately reflect the conditions of children with the most severe forms of SCN8A mutations; successful results pending publication.
hosting a second scientific meeting of SCN8A researchers and clinicians in December 2016 to continue to communication and collaboration and identify promising future initiatives, which included
support for development of a Bio-Bank of SCN8A children which started December 2017 under the leadership of Children’s National Medical Center and
supporting a broader partnership across three sodium channelopathies, which led to a joint scientific meeting in July 2018;
It is a challenge to take this success in when Elliott and kids like him remain so challenged, with lives so limited by the effects of intractable seizures and the many complicating conditions. But we always knew that our goal of “accelerating the pace of science” required a longer-term horizon. And recognizing the inherent time-consuming nature of basic research, our diverse efforts have had concrete results toward our goal of pushing forward the science at an accelerated pace.
We are extraordinarily grateful to all our supporters over the past 4 years as well as the dedicated researchers working tirelessly to expand the understanding of how mutations to these vital and complex genes function and thus accelerate treatments to alleviate their devastating effects.
Yes, there has been remarkable success – but the work continues. We genuinely need your support – thank you for your ongoing help and please let us know if you’d like to help!