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


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


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--

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Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone! We are here to help you connect with others across the world who have a diagnosis of SCN2A, support you through this process, and keep you updated on current research. Stay connected with us and sign up for our emails and newsletter today!

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Raising a child is expensive but raising a child with special medical needs is VERY expensive and we would like to help.

The FamilieSCN2A Foundation sets aside a limited amount of funds each year to offer small grants to patients with SCN2A Disorders for necessary medical equipment, therapy devices, and educational aids associated with these conditions that are not covered through private insurance or other assistance programs.

This program is open to all patients worldwide who meet the program requirements. The program closes each year on December 1st or once funds are depleted for that session. Any remaining funds are rolled over, with the program opening each year on International SCN2A Awareness Day, February 24.

The 2020 Patient Assistance Grant (PAG) program opens on International SCN2A Awareness Day, February 24.

Items that are currently covered under this program include:

» Durable medical goods (such as wheelchairs, orthotics, cooling vests, etc.)
» Therapy equipment
» Communication devices such as iPads
» Costs associated with implementation of the ketogenic diet
» Travel grants to access specialty medical care

The program does not cover medical co-pays, therapy costs, respite assistance or service animals.

If you are applying for an iPad, please note
 the PAG program only covers either an iPad (128GB, wifi only) or an iPad mini (256GB, wifi only). If you were granted funding for an iPad previously, there is a 3 year minimum before you may reapply for a new one. We do not provide AppleCare insurance, but you may choose to add it later at your own cost. We highly suggest that you purchase a durable cover or add it to your application to help protect the device.

If the equipment you are interested in is not listed above or you are requesting more than 3 items, please contact us with more details on the requested item and we can review its eligibility.

Our grant application period begins each year on International SCN2A Awareness Day, February 24, and we cannot accept applications prior to the start of each grant cycle. When funds are depleted for the year, the program will be closed until the next application cycle and notification will be placed on our website. Applications will be reviewed and approved on a first-come, first-served basis. An applicant may apply once per grant cycle with a yearly maximum of $1,500 and a life-time award maximum of $5,000.

Your application packet should include the following documentation:

» Completed application
» A recent letter from the child’s physician or health care professional explaining the medical necessity of your request
» A letter of denial from the insurance provider stating that the requested equipment and/or service was denied (when possible)
» Any other documentation pertaining to the nature of your request. All information is kept confidential.

Applications that are incomplete or missing requested additional information will not be placed in queue for review until complete.  All applicants will receive an email stating approval or denial of their application. Denied applicants wishing to re-apply must provide additional documentation of a change of status in circumstances or that other alternatives have failed. We request up to 45 days to review your application.

By awarding these grants, FamilieSCN2A Foundation is making no recommendation to the appropriateness or safety of any particular piece of equipment or therapy in treating SCN2A Disorders. The FamilieSCN2A Foundation and its Board of Directors are not responsible for the safety and use of awarded equipment or therapies. Applicants are strongly urged to consult with their medical professionals and therapists regarding equipment and therapies that would be most beneficial for their situation. We will not divulge application information without written consent from the applicant or their legal guardian. We do ask that award recipients submit a photo showing the child using their equipment or therapy that we may use for the advertising purposes of this grant program. Children will only be identified by their first name and only with written consent of their guardian.

For questions on this program, please email Leah.

Our goal is to find a cure!

Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone!