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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.
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.
All of us have been there and 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. Just know that other families are out there who want to welcome you to our community.
While much remains unknown about the basic science of SCN8A, its treatment, or its prognosis, we have learned an incredible amount over the last several years.
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.