Working to advance the science of SCN8A-related epilepsy while providing support and resources to the wider community of families struggling with rare pediatric epilepsies.
Wishes for Elliott was founded when my son was diagnosed with SCN8A-related epilepsy at 15 months. These letters and a number meant nothing to us or, devastatingly, his doctors. We were handed one article and the devastating news that they had no idea how to help us. Right then and there, we were driven to advance research and find answers for SCN8A families. Seven years later, there are two compounds approaching clinical trials and early promise for a gene-altering therapy.
Our work has focused on high-impact collaborations to address the critical gaps in research and get us closer to targeted treatments. April 2021 marks 7 years of grant making to early career scientists - many of whom have started their own labs focusing on SCN8A. We hosted the inaugural scientific gathering of SCN8A clinicians, researchers and families in 2015 and have continued to host scientific meetings leading to critical publications and invaluable collaborations. We started a Clinicians Network to develop the first standard of care for SCN8A as well as a Research Consortium to increase collaboration and reduce duplication.
We also play leadership roles in the wider rare epilepsy community. We founded DEE-P Connections, with 28 advocacy partners, to bring critical resources to caregivers of children with the most profound epilepsies. In its first year (2020), DEE-P hosted 25 webinars, bringing epilepsy experts directly to families, sharing critical information and answering caregiver questions (all are recorded and housed in our Resource Center).
Write a review