Helping families find the critical information and support they need
December 11, 2019
Report from Rare Disease Week in D.C.
March 2, 2017
2019 - The Year in Review
December 31, 2019
Increasing Epilepsy & SCN8A Awareness
January 26, 2017
The FIRST International SCN8A Epilepsy Awareness Day is coming up on February 9th. Families across the globe impacted by this cruel disorder rapidly become experts in the challenging world of seizures, anti-epileptic medications, their unknown impacts and frequent adverse side effects. The first International SCN8A Awareness Day provides families and advocacy organizations an opportunity to seek to expand awareness of this rare and often devastating disorder.
We hope to:
Improve knowledge among the general public of the impact and prevalence of rare epilepsies, including SCN8A;
Help families impacted by the disorder connect with the existing resources including an important registry providing the foundation for research, a dynamic family forum for sharing experiences, and the several organizations supporting SCN8A research.
Increase understanding of the power of vital importance of the scn8a.net registry – and encourage wider participation and support for the project.
Did you know
65 million people globally have epilepsy – estimated at close to 3 million Americans?
one in 26 people will develop epilepsy over their lifetime – with the greatest prevalence in young children and older adults?
one in three people with epilepsy have uncontrolled seizures severely impacting the quality of their lives?
there are over 400 rare epilepsies which together are estimated to affect hundreds of thousands of young children?
the prevalence is of rare childhood epilepsies is widely expected to expand exponentially as increased genetic testing reveals genetic causes of many rare childhood epilepsies?
the impact of rare epilepsies on children is far more severe and even fatal for children compared to more manageable versions among the general population?
SCN8A – a sodium channel-based epilepsy – was identified as pathogenic in humans just four years ago – but its’ often devastating impact was quickly recognized? It is now included in the initial panel of genetic tests given when infants or children first exhibit signs of epilepsy, leading to earlier and more frequent diagnoses.
in 2012 there were only 12 known cases of SCN8A epilepsy while there are now over 150? However recent research has consistently shown that SCN8A is likely the cause of 1% of unidentified intractable epilepsies – meaning there are likely hundreds of thousands struggling with this rare and often devastating disorder.
SCN8A mutations are located in the voltage-gated sodium ion channel gene. Children with pathogenic mutations in this gene often suffer from early onset and intractable seizures, developmental delays, motor and speech deficits, intellectual disability, and/or host of respiratory and feeding problems. A recent survey revealed the profound impact on affected children:
75% have intractable (uncontrolled) seizures – more than double the rate of epilepsy overall
64% are nonverbal
52% cannot walk
40% lack manual dexterity
40% cannot sit independently
30% lack head control
Most suffer from developmental delays including cognitive impairment
Breathing, digestive, urinary and systems are often severely impaired, sleep is disrupted, scoliosis is frequent and nearly 1/3 experience vision impairment.
SCN8A epilepsy appears to be associated with one of the highest incidences of premature death – with 7 deaths known among the 150 identified cases. The causes vary and little is known how to effectively monitor for symptoms or prevent these deaths.
The focus on rare epilepsies is limited, especially relative to its prevalence and severity of impacts.
In spite of the growing prevalence, often profound disabilities, and frequent premature deaths, rare epilepsies receive a very limited share of NIH budget; during FY 2107, NINDS, the NIH center focusing on neurological diseases will spend less than 1 % of it budget on epilepsy research.
The overwhelming majority of research on rare epilepsies is attributed to the leadership, advocacy, and direct research funding by small often family-based non-profit organizations.
Help advance SCN8A awareness and research.
Take action to mark the first International SCN8A Epilepsy Awareness Day
Share a link to this Factsheet with your friends and family
Contribute to a booster campaign selling special shirts to mark the occasion – with all funds dedicated to development of a vital SCN8A patient registry and resource center – click HERE
Learn more about the experience of different families with children with SCN8A mutations – visit The Cute Syndrome Foundation's collections of short stories by families of what SCN8A means to them.
Write your Congressman to support the OPEN Act - legislation to facilitate drug development for rare diseases by providing an additional six months of market exclusivity for the drug being repurposed for rare disease treatment. Click here for information and links on how to make you voice heard