SCN8A.EPILEPSY.AWARENESS
|
SCN8A Epilepsy is a rare disorder that is known to affect around 400 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.
Order your SCN8A Awareness Day shirts! |
SCN8A AWARENESS DAY 2020: STRONGER TOGETHER
On previous Awareness Days, we have shown you how we KEEP MOVING FORWARD and you have learned we will never give up this fight because WE CHOOSE HOPE.
As a community our drive comes from the connections we have created within and outside our community. In the days surrounding February 9th, International SCN8A Awareness Day, you will learn one thing about the people in this fight...we are #StrongerTogether!
Your purchase of an SCN8A Awareness Day shirt will not only help support the work The Cute Syndrome does in the SCN8A community, but you can also help us spread awareness around the world by wearing your shirts on February 9th and all throughout the month of February. Share a photo on social media with the tags: #strongertogether #scn8astrong #scn8aawareness #internationalscn8aawarenessday
As a community our drive comes from the connections we have created within and outside our community. In the days surrounding February 9th, International SCN8A Awareness Day, you will learn one thing about the people in this fight...we are #StrongerTogether!
Your purchase of an SCN8A Awareness Day shirt will not only help support the work The Cute Syndrome does in the SCN8A community, but you can also help us spread awareness around the world by wearing your shirts on February 9th and all throughout the month of February. Share a photo on social media with the tags: #strongertogether #scn8astrong #scn8aawareness #internationalscn8aawarenessday
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
|
Cute syndrome foundationUS Foundation Funding SCN8A Research & Supporting SCN8A Families
|
SCN8A.net - University of ArizonaSCN8A Registry and Information Resource
|
Wishes for ElliottUS Foundation Funding SCN8A Research
|
