SCN2A is a gene that when mutated or deleted, is a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. It was once thought to be so rare, it was not even worthy of naming as a syndrome so patients suffering from changes in the gene are told they have an SCN2A-related disorder. Science has come a long way and they are now predicting that approximately 1/ 10,000 people have this disorder, most remain undiagnosed due to lack of access to proper genetic testing. Many children with this disorder do not survive childhood and if they do, they live a life of complete dependence with multiple medical complexities.
The FamilieSCN2A Foundation is a registered 501(c)(3) organization created by parents of children diagnosed with an SCN2A-related disorder. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy. To accomplish our vision and mission, we coordinate and collaborate with the global scientific community to understand the function of the SCN2A gene in order to develop effective treatments and a cure for SCN2A disorders. We increase medical community and public awareness of the complexity and potential severity of SCN2A disorders. We provide educational and emotional support for those affected by SCN2A disorders. And of course, we raise money to fund our goals. In 2020, in the midst of a global pandemic, we are celebrated our 5th birthday as an official non profit. The online support group was launched in 2013 and grew quickly. Today we have over 700 families from around the globe and many more members that follow us through newsletters and emails who are not on social media.
We consider ourselves stewards to our community and each BOD and volunteer works incredibly hard to meet the Foundation's goals. The FamilieSCN2A Foundation holds itself to standards above and beyond the obligations set forth by the governing agencies. When we were organizing, it was critical to each of us to build a foundation that was strong and could sustain us for the long run. We developed values and live by these not only in our professional work, but also in our personal lives. We rely heavily on one another and work closely as a team. As the community has grown, so has our team to include not only family members, but also professionals who lend an outside perspective. This growth has been the instrumental in taking our work to the next phase as we lead our community through clinical trials. Our strategic planning has set the roadmap to success however we have vowed to stay nimble so we can pivot when necessary like this year during the pandemic.
We believe in a CURE for our children and all those to come. We can't do it without your support.