Sometimes getting a diagnosis can be the hardest part of the journey. There are resources available if you think you or your child may have SCN2A. Check out the following resources to help you get closer to a diagnosis.
Show Me Your Genes is dedicated to raising awareness and funding for genetic testing and research, with a goal to accelerate proper diagnosis and effective life style plans for special needs families.
Show Me Your Genes was founded to make the process of diagnosing special needs children less stressful for families.
Our goal is to raise awareness about how important genetic testing and the Whole Exome Sequencing test is to receive a proper diagnosis. We will raise money to provide funds to families for the genetic testing when insurance will not cover the test. Our goal is to eventually have the insurance companies pay for this testing for special needs children. In addition we will also provide grants to other qualifying non profits who are in need of funding for research in genes associated with special needs children, teens and adults.
Funding genetic testing to find a proper diagnosis to create the right solution. Visit showmeyourgenes.org
If you or a loved one has a rare and genetically undiagnosed childhood-onset condition, join a patient-driven research study to discover the genes underlying your family's rare disease.
More than half of the genes underlying rare disease remain undiscovered. Donating your data enables us to learn more about the genetic variants that make families like yours unique.
Join the research community. The Rare Genomes Project is supported by The Broad Institute of MIT and Harvard, in partnership with patients and advocates like you. When you share your genetic data and your story, we can use next-generation sequencing to learn more about the genetic causes of ultra-rare diseases.
Count Me In! Visit raregenomes.org
Behind the Seizure™ Program Expansion Helps Speed the Diagnosis of Genetic Epilepsy in Younger Children Experiencing Unprovoked Seizures
--Stoke Therapeutics and Xenon Pharmaceuticals Join Founders BioMarin and Invitae to Offer a No-Cost Epilepsy Gene Panel Testing Program for Children Up to 60 Months Who Have Had an Unprovoked Seizure--
Ways To Contribute
Whatever you decide, please let us know. We are here to support you with ideas, resources and more. Check out the FamilieSCN2A Fundraising Page on facebook to see how others have helped.