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Rare Disease Day and SCN8A

Rare disease day is celebrated on the last day of February every year. It is a day to raise awareness of the roughly 7000 rare diseases that affect over 300 million people around the world. 

SCN8A isn’t just rare, it is ultra rare. With roughly 800 people identified worldwide to date, this is an extremely rare disorder. 

BUT, we are finding more people every day. 

AND, it is estimated that 1 in every 60,000 people born are likely to have an SCN8A mutation. 

SO, we have hope that as we continue to find more people with SCN8A, document their journey’s and learn from each of them, we are getting closer to a cure. 

Working Together for Better Care and Answers

The International SCN8A Alliance knows that as an ultra rare disorder, it is hard to get the kind of attention and resources we need to advance our cause if we work only in our own space. With that in mind, apart from working to unite the SCN8A community globally to work with more urgency and coordination towards better care and treatement from thise living with SCN8A and their families. we also partner across the epilepsy and rare disease spaces to imrpve the lives of our families. 

We are proud to work with the RDDC on efforts to improve access to improved quality care for those living with rare diseases. 
We were early contributors to remain partners in building this effort to urgently work to collaboratively improve outcomes of rare epilepsy patients and families by fostering patient-focused research and advocacy.
Recognizing the importance of working across the entire epilepsy community to improve outcomes, we have played an active role in this effort to develop and coordinate among members on projects that will have a positive impact on the lives of individuals with epilepsy, focusing on those areas where working together produces greater efficiency and impact than working independently. Our Co-Founder, Gabi Conecker, currently serves as the Chair of the ELC.
We sit on working groups with the National Association of Epilepsy Centers to help ensure that families cab gain access to a comprehensive team approach to the diagnosis and treatment of epilepsy, with a range of doctors and other providers who are experts in treating epilepsy.