Rare Genetic Epilepsy Spurs Families into Action


WASHINGTON – 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 the urgency for accelerating scientific progress.

The First International SCN8A Awareness Day is coming up February 9th and three 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.

About SCN8A Epilepsy [if !supportLineBreakNewLine] [endif]

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 foundations – Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott: Advancing SCN8A Research share an unwavering commitment to bringing answers and hope to the families and children affected by this poorly understood disorder. In just a short time these foundations have sponsored new research, hosted two scientific meetings yielding seminal peer-reviewed articles, hosted two international family, clinician and researcher conferences, and come together to support Dr. Hammer’s critical registry.

Meet the challenge to learn about SCN8A epilepsy

CONTACTS:

JayEtta Hecker, Executive Director, Wishes for Elliott 202-537-0105 WishesforElliott@gmail.com

Michael Hammer, Founder and Director of SCN8A Registry, University of Arizona Center for Human Genetics, scn8a.info@gmail.com

[if gte vml 1]><v:shapetype id="_x0000_t75" coordsize="21600,21600" o:spt="75" o:preferrelative="t" path="m@4@5l@4@11@9@11@9@5xe" filled="f" stroked="f"> <v:stroke joinstyle="miter"></v:stroke> <v:formulas> <v:f eqn="if lineDrawn pixelLineWidth 0"></v:f> <v:f eqn="sum @0 1 0"></v:f> <v:f eqn="sum 0 0 @1"></v:f> <v:f eqn="prod @2 1 2"></v:f> <v:f eqn="prod @3 21600 pixelWidth"></v:f> <v:f eqn="prod @3 21600 pixelHeight"></v:f> <v:f eqn="sum @0 0 1"></v:f> <v:f eqn="prod @6 1 2"></v:f> <v:f eqn="prod @7 21600 pixelWidth"></v:f> <v:f eqn="sum @8 21600 0"></v:f> <v:f eqn="prod @7 21600 pixelHeight"></v:f> <v:f eqn="sum @10 21600 0"></v:f> </v:formulas> <v:path o:extrusionok="f" gradientshapeok="t" o:connecttype="rect"></v:path> <o:lock v:ext="edit" aspectratio="t"></o:lock> </v:shapetype><v:shape id="Picture_x0020_6" o:spid="_x0000_i1028" type="#_x0000_t75" alt="Picture" href="http://www.ajudeorafa.com.br/" target="&quot;_blank&quot;" style='width:221.25pt;height:73.5pt;visibility:visible;mso-wrap-style:square' o:button="t"> <v:fill o:detectmouseclick="t"></v:fill> <v:imagedata src="file:///C:\Users\JAYETT~1\AppData\Local\Temp\msohtmlclip1\01\clip_image001.jpg" o:title="Picture"></v:imagedata> </v:shape><![endif][if !vml][endif]

Featured Posts
Recent Posts
Search By Tags
Follow Us
  • Facebook Basic Square
  • Twitter Classic
  • Google+ Basic Square

 

© 2020 by Wishes for Elliott

 

A special thank you to WIX for hosting this site.

  • Wix Facebook page
  • Wix Twitter page
This site was designed with the
.com
website builder. Create your website today.
Start Now