SCN8A.EPILEPSY.AWARENESS
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SCN8A is a rare disorder that is known to affect ~550 individuals worldwide. It can cause 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 2023: Celebrate Today
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You can also watch all our videos from previous years:
2022: Our Cute Story 2021: Against All Odds 2020: Stronger Together 2019: We Choose Hope 2018: Keep Moving Forward 2017: First Awareness Day SCN8A Awareness Day Playlist |
About the first International SCN8A Awareness Day
The First International SCN8A Awareness Day was February 9th, 2017. Family-based advocacy organizations including Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott—as well as individual families—shared the story of the grave impacts of this newly identified epilepsy.
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.
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, 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.
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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The Cute Syndrome FoundationUS Organization Funding SCN8A Research & Supporting SCN8A Families
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SCN8A FranceOrganization Supporting French SCN8A Families
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SCN8A EuropeOrganization Supporting European SCN8A Families
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SCN8A ItaliaOrganization Supporting Italian SCN8A Families
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SCN8A UK and IrelandOrganization Supporting SCN8A Families in the UK and Ireland
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SCN8A PortugalOrganization Supporting Portuguese SCN8A Families
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SCN8A NederlandOrganization Supporting Netherlands-based 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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Awareness Raising Materials
Facebook Profile Photos
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Social Media Graphics
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Download the press release below and update with your info to share with your local media outlets.
