Welcome - You Are NOT Alone!
We’re so glad you found us. We are a collective of nonprofits, families, clinicians, and researchers working collaboratively to find answers for all our SCN8A children. We aim to be a resource for you on this journey, so please reach out anytime to chat with another SCN8A family, join a regional community meeting, ask your questions or talk with our resident geneticist, Dr. Michael Hammer, who first identified SCN8A as the cause of epilepsy in his daughter—Shay.
Receiving a diagnosis of SCN8A can be overwhelming and may leave you with many unanswered questions. Below, families who have been on this journey shared some advice and guidance they wish they had when they first received this diagnosis.
Network meetings are your place for LIVE support and research updates. SCN8A networks, sponsored by the International SCN8A Alliance, offer opportunities to connect with Dr. Hammer, an SCN8A parent and the Genetic Scientist responsible for the discovery of the SCN8A gene’s association with pediatric epilepsy. These groups will provide you with a chance to share your journey, ask questions relevant to your experience, learn about the newest SCN8A developments AND connect with other families who know what you are going through.
We have also created a Newly Diagnosed Guide that includes information to help you:
- Learn about SCN8A from other caregivers and our resident geneticist and 8A father – Dr. Michael Hammer
- Build your team by finding the best doctors and specialists to maximize your child’s care
- Prepare by learning from other families and planning for the future
Our partners at SCN8A China adapted our Newly Diagnosed guide into Mandarin and for the context of families living in China. We link to it here in order to increase access to this invaluable resource for families who have a loved one newly diagnosed with SCN8A.
我们在 SCN8A 中国的合作伙伴将我们的新诊断指南改编成普通话，以适应中国家庭的情况。我们在此处链接到它，以便为有新诊断出 SCN8A 的亲人的家庭增加对这一宝贵资源的访问。 and SCN8A Es
We also worked with our partners at SCN8A China adapted our Newly Diagnosed guide into Mandarin and for the context of families living in China. We link to it here in order to increase access to this invaluable resource for families who have a loved one newly diagnosed with SCN8A.
Some of the advice to you from other SCN8A parents:
Every one of us has a number of changes in our DNA that occur naturally. Many of these changes, or mutations, are benign and cause no health issues, but some of them do, such as those that can occur in the SCN8A gene. We are learning that the severity of these health issues, such as with SCN8A, can change depending on where this change/mutation is on the gene, known as the variant. Genetic changes can be either de novo (new/formed spontaneously) or inherited (from the parent’s DNA). Either way, this is a genetic hiccup, although a pretty challenging one, that none of us could have prevented or seen coming. So remember, this is NOT your fault!
While many of us have the instinct to trust that health care providers know best, the truth is that with a condition as rare as SCN8A, the parents and caregivers are really the experts on their children. Parents must learn to trust themselves and fiercely advocate for their children. You will learn a lot from this community, from other parents, and from the Registry that captures extensive data about our children—what medications do or do not work, what health issues to be on the lookout for, which doctors actually listen to parents, and much more—all shared by SCN8A caregivers.
Our single most important message is that you are not alone. All of us have been there and have lived through fear, anxiety, frustration, anger, denial, despair, and grief. The journey, how you feel, and what you choose to focus on will be uniquely yours – but it will be important to remember that other families are out there and want to welcome you to our intimate community of fellow SCN8A parents and caregivers.
