Families of over 150 children globally including Tristan Burk of Stoney Point, Ontario struggle 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 to share the story of the grave impacts of this newly identified epilepsy.
Stoney Point - February 8, 2017 - Families of over 150 children globally including Tristan Burk of Stoney Point, Ontario struggle 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.
Seven year old Tristan began having notable tonic clonic seizures at six months old where he stops breathing and turns blue - a scene his Mom, Cynthia and Dad, Chris Savard the General Manager of Devonshire Mall are far too familiar with. Tristan holds two titles, SCN8A Epilepsy and Autism. In addition, he is non-verbal which makes life... interesting! Tristan has worked with speech pathologists since he was a toddler and his parents heard, Mama and Dada for the first time when Tristan was four years old. He uses a communication device to talk but continues to try to communicate verbally.
An occupational therapist works on fine motor skills and Tristan attends a wonderful school with amazing peers and an incredible staff that help him navigate his academic and life skill endeavours. ABA (Applied Behaviour Analysis) and PRT (Pivotal Response Treatment) programs have been invaluable at teaching his Mom and Dad practices to help Tristan achieve numerous goals.
Their most recent blessings are the discovery of an SCN8A family community, The Cute Syndrome Foundation and Dr. Michael Hammer and his SCN8A registry. Cynthia and Chris emphasize the need for research to understand and treat the medically fragile disorder and to educate those in the community at large.
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.