First International SCN8A Awareness Day on February 9

Three organizations dedicated to promoting research about SCN8A Epilepsy are joining families around the world for the first International SCN8A Awareness Day on February 9. Their goal is to inform affected families about available resources and educate the public about this rare but devastating genetic disorder.

The organizations leading the charge are Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott, which are members of the Rare Epilepsy Network (REN).

Honoring Shay

February 9, 2017, would have been Shay Hammer’s 21st birthday. Shay passed away suddenly in 2011 and is the first documented case of sudden unexpected death in epilepsy (SUDEP) in a child with an SCN8A mutation. A geneticist, Shay’s father Michael was the first to isolate the SCN8A gene as the cause of his daughter’s struggle with epilepsy. Sadly, that discovery came weeks after her death. Formerly a population geneticist, he now dedicates his life and professional work to advancing the scientific understanding of SCN8A. One of his efforts is the development of an online registry for children with SCN8A.

About SCN8A Epilepsy

SCN8A mutations are associated with some of the most severe forms of epilepsy. There currently is no known treatment. Children with SCN8A mutations struggle with debilitating and severe effects, including:

• 70% suffer from intractable seizures, double the rate among the overall epilepsy population.  
• Half are unable to walk.
• More than half are nonverbal.
• 30% cannot control their head.
• They are at very high risk of SUDEP.

About REN

To expedite research into the rare epilepsies, more than 25 rare epilepsy organizations have joined forces with the Epilepsy Foundation, Research Triangle Institute, and Columbia University to create REN.

“The Rare Epilepsy Network is a consortium of partners dedicated to conducting research to improve outcomes of rare conditions associated with epilepsy and seizures. REN is committed to addressing the urgent health challenges of our rare epilepsy community,” said Brandy Fureman, vice president of research and new therapies at the Epilepsy Foundation. “We do this by engaging people living with a rare epilepsy and caregivers, making data available to researchers, and investigating causes and consequences of rare epilepsies in order to improve diagnosis, treatment, and find cures.”

REN is building a registry to collect information about people with rare epilepsies to:

• Support and encourage research
• Better understand these conditions
• Develop treatments
• Improve the lives and quality of care of people affected

How to Get Involved and Help Honor Shay

• Visit the SCN8A organizations’ websites to learn more: Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott
• Learn about epilepsy syndromes, rare epilepsies, and REN
• Share what you learned and the video below with family, friends, and on social media
• If you or someone you know has an SCN8A mutation or a rare epilepsy, join the registries: 8A Registry and REN Registry