Our Tale of Progress through Partnerships
One of the overwhelming emotions of coping with a diagnosis of a debilitating and rare genetic disorder is a profound sense of isolation. You quickly become physically isolated just managing the day to day care. But you also become emotionally isolated – for so long we felt so alone in the world – as if there was no-one who was experiencing the unending barrage of losses as we came to understand the pervasive depth of Elliott’s illness and disabilities – he wouldn’t have head control, grasp a toy, roll, sit, eat, have clear vision – let alone walk, run, talk, play, or have friends, lovers or his own children.
The irony is that by breaking out of our despair, depression and isolation in the hopes of bringing answers to children like Elliott, we are making so many wonderful connections. Not only have these partnerships broken through our isolation, but they are the foundation of all the progress we have been able to make.
When we started Wishes for Elliott less than two years ago, before Elliott’s diagnosis, we were uncertain about both what we would do or how – we just knew we had to do “something.” We had little idea of how to start or how we could make a difference.
Our first partnership was with Elliott’s genetic neurologist, Dr. Adeline Vanderver and his epileptologist, Dr. William Gaillard. At the same meeting where they told us the results of Elliott’s genetic testing – and how few answers it brought – they worked with us to develop a plan to accelerate the rate of progress in developing the scientific understanding of SCN8A. Less than a year later, that partnership culminated in the extraordinary first ever scientific conference of SCN8A experts – and two important upcoming publications providing baseline information on SCN8A for clinicians and researchers around the globe.
Other early partnerships were with three outstanding epilepsy Program Directors in NIH’s National Institute for Neurological Diseases and Stroke (NINDS)– Vicky Whittemore, Brandy Fureman and Randy Stewart who have helped us navigate the world of rare diseases and optimize our impact given our limited resources – both financial and personal.
It’s hard to imagine a deeper connection than we feel for Dr. Michael Hammer – who was the first to identify the SCN8A gene as pathogenic in humans – sadly found posthumously in his own beautiful daughter, Shay. He redirected his entire career to pursue answers about this seemingly rare and poorly understood disorder and has been a dear friend and resource to us. We were pleased to join two other SCN8A groups, Help Adeline Find Answers and The Cute Syndrome Foundation, to make a joint grant in support of Dr. Hammer’s ground-breaking registry and online interactive resource at scn8a.net for families, clinicians and researchers.
We are also proud to be in partnership with the Epilepsy Foundation’s Rare Epilepsy Network (REN) – dedicated to building a combined registry of critical data on a wide range of rare genetic disorders. We have been pleased to be part of getting SCN8A added to the network and serving on the REN Steering Committee to expand enrollment and the utility of the resource for families, physicians and researchers.
We have also been honored to partner with is the Citizens United for Research in Epilepsy (CURE) and their Epilepsy Genetics Initiative (EGI), which will advance research by bringing together the whole exome genetic data of people with epilepsy from divergent private testing companies from all over the globe. Wishes for Elliott serves as a resource for families newly diagnosed with SCN8A mutations, promotes SCN8A families registration with the EGI and serves as a founding member of CURE’s Coalition of Rare Epilepsies (CORE).
Most recently, Wishes for Elliott has forged a partnership with the American Epilepsy Society (AES) which has a commitment to shape and support an aggressive research agenda on rare childhood epilepsies. We are partnering with AES to offer a competitive grant to further research on SCN8A by a young investigator. We reap the benefit of utilizing their established grant vehicles and having their extraordinary scientific board conduct a rigorous grant review, while we retain final selection authority among eligible applicants. We are also pleased to have just joined the Epilepsy Leadership Council, formerly Vision 2020, now organizing within the AES. We will serve on their Research Work Group to help promote efficiency and coordination among granting agencies and patient advocacy organizations like us seeking to promote and support focused genetic epilepsy research.
We continue to partner with individual SCN8A families, serving as a resource and partnering in a range of ways. Each connection is special and we treasure these relationships. Most importantly, we have been moved beyond words by the loving, loyal, and generous friends and allies we have formed through our Facebook community, without whom we would surely still be alone and isolated.
We are so blessed to have taken the leap beyond our own isolation and built so many wonderful partnerships and relationships. It all could easily have gone in a more hopeless and despairing direction. We moved beyond what was at times anger and frustration with doctors, frustration with NIH’s limited funding and attention to these issues, the slow pace of research, the limited coordination of varied efforts, and the limited attention of epilepsy organizations to rare and debilitating childhood epilepsies. These frustrations were real and had the potential for freezing us in our sadness, anger and hopelessness. Instead, we chose to believe something COULD be done to improve the unacceptable status quo – and we would move forward in whatever way we could to do just that.
The partnerships we have formed along the way are not just the source of our progress as a tiny non- profit stretched beyond our personal and financial capacity. With each of these partnerships we have been building relationships to work toward shared goals of fighting rare and undiagnosed genetic disorders generally – and accelerating the pace of scientific progress on SCN8A specifically. And mostly, opting for hope over despair.