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The SCN8A Awareness Day is more than an event; it’s a vital platform for change. “If only more people knew about SCN8A, early diagnosis and effective treatment would be more attainable, and families would feel less isolated,” says Kacie Craig, Executive Director of The Cute Syndrome Foundation. “This day is about turning empathy into action and ensuring that individuals living with SCN8A receive the recognition and support they deserve.”
February 9 will mark what would have been the 28th 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 (Sudden Unexplained Death in Epilepsy) in a child with an SCN8A mutation.
Rare disease organizations, media outlets, healthcare professionals, educators, and the public are invited to join The Cute Syndrome Foundation in this important cause. Together, they can shine a light on SCN8A and make a tangible difference in the lives of those affected.
For more information about International SCN8A Awareness Day and how to get involved, please visit scn8aawarenessday.net or contact Kacie Craig.
About SCN8A
SCN8A is a gene that affects how brain cells function. Mutations on this gene cause a range of symptoms that can include severe epilepsy, developmental delay, and other medical challenges. Every person with this condition is affected differently and with varying severity. The role of SCN8A in the human brain was discovered in 2012. Since then, ~550 patients have been diagnosed with SCN8A epilepsy and related disorders. Due to advances in genetic testing, more patients are being discovered all the time.
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 Cute Syndrome Foundation
The Cute Syndrome Foundation raises awareness of SCN8A mutations, funds the dedicated and talented scientists researching SCN8A, and supports families around the world who are affected by this disorder. Our commitment to raising awareness and supporting research for SCN8A is driven by our belief in a future where every individual with SCN8A has access to the best possible care and support.
The Cute Syndrome Foundation is the starting point for support for new families to reach as they receive a diagnosis. We help clinicians standardize treatment for individuals with SCN8A. We work to expand scientific knowledge of rare genetic mutations associated with pediatric epilepsy and are the mainstay foundation to increase public knowledge of SCN8A mutations.
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