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. 
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Many children struggle with debilitating effects including 50% being unable to walk, over 50% being 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.

February 9th, 2017 marked 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 were dedicated during this period to supporting the www.scn8a.net efforts.

Learn more scn8aawarenessday.net.                            

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