SCN8A.EPILEPSY.AWARENESS
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SCN8A Epilepsy is a rare disorder that is known to affect around 350 individuals worldwide--causing severe epilepsy, developmental delay, and other medical challenges. The gene SCN8A was isolated in humans by Michael Hammer, PhD, a geneticist who found the gene in his own daughter, Shay, soon after her death in 2011. We celebrate SCN8A Awareness Day on February 9th, Shay Hammer's birthday.
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SCN8A AWARENESS DAY 2019: we Choose hope
We at The Cute Syndrome Foundation are feeling more hopeful than ever due to the amazing community of researchers, clinicians, and volunteers who are working to help our SCN8A community. This SCN8A Awareness Day, we want you to know anout the very special people who help us CHOOSE HOPE everyday: Our Children.
about the first international scn8a AWARENESS day
The First International SCN8A Awareness Day is February 9th and family-based advocacy organizations including Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott, 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.
Michael Hammer shared that he is “moved by the extraordinary effort and commitment of families with children struggling with SCN8A and their efforts to promote awareness and support the registry” which is dedicated to furthering understanding of the causes, consequences, and treatment of SCN8A.
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.
Michael Hammer shared that he is “moved by the extraordinary effort and commitment of families with children struggling with SCN8A and their efforts to promote awareness and support the registry” which is dedicated to furthering understanding of the causes, consequences, and treatment of SCN8A.
About SCN8A EPILEPSY
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.
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.
SCN8a Awareness and research organizations
Ajude o Rafa - Epilepsia SCN8AThe Brazilian SCN8A Epilepsy Research and Awareness Foundation
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Cute syndrome foundationUS Foundation Funding SCN8A Research & Supporting SCN8A Families
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SCN8A.net - University of ArizonaSCN8A Registry and Information Resource
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Wishes for ElliottUS Foundation Funding SCN8A Research
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