Rare Genetic Epilepsy Inspiring Families to Fight for Answers

  WASHINGTON, D.C. - 02/02/2017 (PRESS RELEASE JET)

Three foundations formed by families with children struggling with an SCN8A mutation - a rare but devastating genetic disorder - are joining forces to educate the public about SCN8A epilepsy and the urgency for accelerating scientific progress. Each waited years for a diagnosis for the terrifying symptoms their children were experiencing – only to get a “diagnosis” that provided no answers.

The First International SCN8A Awareness Day is coming up February 9^th and family-based advocacy organizations including Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott: Advancing SCN8A Research are reaching out to share their stories of the grave impacts of this newly identified epilepsy and their ambitious efforts to accelerate scientific research. They share a focus on laying the groundwork so the promise of Precision Medicine can bring highly tailored and effective treatments for children with SCN8A mutations.

Each moved into the vacuum left by the limited or nonsexist funding on SCN8A by federal and existing epilepsy foundations. Each aggressively went public with their stories, spoke up, reached out, raised funds and sponsored critical efforts to accelerate progress. They wanted answers for their children and the growing number of children being diagnosed daily with SCN8A.

For the first time, through their individual or collaborative efforts, they

• brought SCN8A researchers together to accelerate coordination and improve the productivity of research efforts,
• supported a nascent but essential SCN8A registry,
• created a global online community and resource for SCN8A families,
• funded young investigators pursuing promising new research strategies,
• supported publication of peer-reviewed seminal journal articles on the state of knowledge of SCN8A science,
• created a Physicians’ Guide for treating children with SCN8A- all with the overall results of
• accelerating the pace of progress in science to catch up with their children.

About the International SCN8A Awareness Day

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 epilepsy. Sadly the discovery came just weeks after Shay’s sudden and unexpected death in epilepsy (SUDEP) in 2011 at 15 years old – becoming the first documented case of SUDEP in a child with an SCN8A mutation. 

Michael Hammer has since dedicated his life and professional career as a geneticist to advancing the scientific understanding of this devastating disorder. He has developed an innovative and powerful online registry of children with SCN8A. In honor of the First International SCN8A Awareness Day, 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

SCN8A mutations are associated with some of the most severe forms of epilepsy. 70% of affected children suffer from intractable (uncontrolled) seizures, double the rate among the overall epilepsy population. 

Many children struggle with debilitating effects, including 50% who are unable to walk, over 50% are nonverbal, and 30% lack head control. Children with SCN8A are at very high risk of SUDEP or 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 resilient, heroic, beautiful children who deserve answers.

Meet the Challenge

Learn about SCN8A epilepsy and efforts to bring answers and hope to the children and their families:

• Learn six basic facts about SCN8A.
• Read or listen to an SCN8A family conference bringing not just families but researchers and clinicians together to focus on vital topics.
• Read about two SCN8A expert conferences and the resulting scientific publications.
• 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 experiences.
• Conozca a Rafa  y lea de sus familias esfuerzos para apoyar la investigación de SCN8A.
• Explore the innovative scn8a.net interactive registry and resource for families, clinicians and researchers.

Meet some SCN8A children: https://www.youtube.com/watch?v=-A2FkrV1BLM