Monday January 20, 2017
PRESS RELEASE from Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott
Contacts listed below.
Cannington Ontario – Families of over 150 children globally struggling with SCN8A - a rare but devastating genetic disorder - are joining forces to educate the public about SCN8A and inform affected families of available resources.
The First International SCN8A Awareness Day is coming up February 9th and family-based advocacy organizations including Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott: Advancing SCN8A Research, 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.
"My son Nicholas Frappier (Nico) had his first Tonic seizure in his Nana’s arms on Mother’s Day 2014. He was six months old. In 2015 at this time he had so many seizures from an adverse drug reaction that he lost all of his milestones. He went from running and smiling to not being able to lift his head up or eat any of his favourite foods. Thanks to genetic testing, gene-guided medication management, and my perseverance he has gained most of it back and now even knows a few signs. Our family relies a lot on our SCN8A family. The other parents are a huge support for us and we love to hear about all of the triumphs my SCN8A friends have and we never feel alone in this journey. He will never be cured but I hope he will have seizure freedom."
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.
About the Foundations Dedicated to SCN8A Epilepsy
The three SCN8A Epilepsy foundations have each been inspired and led by families with children carrying SCN8A mutations and struggling with the absence of basic medical understanding of the disorder or effective strategies for treating and improving the condition of their children.
The unwavering commitment to bringing answers and hope to the families and children affected by this poorly understood disorder. More information about their diverse efforts and considerable successes are available at their individual websites.