Rare Genetic Epilepsy Spurs Families into Action
WASHINGTON – Families of over 150 children globally struggling with SCN8A - a rare but devastating genetic disorder - are joining forces to educate the public about SCN8A and the urgency for accelerating scientific progress.
The First International SCN8A Awareness Day is coming up February 9th and three family-based advocacy organizations including Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott: Advancing SCN8A Research, as well as individual families are reaching out to share the story of the grave impacts of this newly identified epilepsy.
February 9th will mark what would have been the 21st birthday for Shay Hammer whose father Michael, at the time a population geneticist, was the first to isolate the SCN8A gene as the cause of his daughter’s struggle with epilepsy. Sadly the discovery came weeks after Shay’s sudden and unexpected death in 2011 at 15 years old – the first documented case of SUDEP in a child with an SCN8A mutation.
Michael Hammer has since dedicated his life and professional work as a geneticist to advancing the scientific understanding of this devastating disorder. He has developed an innovative and powerful online registry for children with SCN8A. All proceeds from sponsored events and contributions to the three organizations are being dedicated during this period to supporting the www.scn8a.net efforts.
About SCN8A Epilepsy [if !supportLineBreakNewLine] [endif]
SCN8A mutations are associated with some of the most severe forms of epilepsy. 70% of affected children suffer from intractable seizures, double the rate among the overall epilepsy population.
Many children struggle with debilitating effects including 50% unable to walk, over 50% are nonverbal, and 30% lack head control. Children with SCN8A are at very high risk of SUDEP for early death from a range of poorly understood causes related to epilepsy.
Little is known about SCN8A including an absence of established treatments. Like many rare disorders, families and their efforts to advance research offer the greatest hope for these beautiful children who deserve answers.
About the Foundations Dedicated to SCN8A Epilepsy
The three foundations – Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott: Advancing SCN8A Research share an unwavering commitment to bringing answers and hope to the families and children affected by this poorly understood disorder. In just a short time these foundations have sponsored new research, hosted two scientific meetings yielding seminal peer-reviewed articles, hosted two international family, clinician and researcher conferences, and come together to support Dr. Hammer’s critical registry.
Meet the challenge to learn about SCN8A epilepsy
Learn Six Fact About SCN8A Epilepsy
Read about two SCN8A expert conferences and the resulting scientific publications
Learn more about the prevalence of epilepsy and rare childhood epilepsies
Follow the unvarnished challenges – and joys – of parenting a child profoundly disabled by SCN8A
Meet many of the children with SCN8A mutations and get a glimpse into their experience
Meet Rafa and read about his families efforts to support research
Explore the innovative scn8a.net interactive registry and resource for families, clinicians and researchers.