Information to Act On
On this page you’ll find resources specifically created for SCN8A families.
With the publication of the first-ever scientific consensus on SCN8A, a major milestone for every rare disorder, we have established a baseline for the care and treatment of those with SCN8A. You can read and share the full version with your clinicians HERE.
To make this crucial information accessible to SCN8A families, we are committed to translating complex medical data into practical, understandable guidance to help you effectively advocate for your loved one. Below are resources to help.
Downloadable Information for SCN8A FAmilies
SCN8A Consensus Summary
Here is an amazing synthesis of the global consensus on SCN8A.
Newly Diagnosed Guide
An incredible resource for those with a recent SCN8A diagnosis. It’s meant to help get you up to speed on the most important aspects of an SCN8A diagnosis.
SCN8A Family Kits
These kits, which include beautiful books are designed to inform, , and open communication channels for SCN8A families and your remarkable VIP siblings.
SCN8A Family Support Meetings
Our meetings allow you to talk to leaders in the fields of SCN8A research. Bring your questions!
Weekly Online Meetings
Connect directly Dr. Michael Hammer, the geneticist who identified SCN8A as a cause of epilepsy, and SCN8A mom/advocate Gabi Conecker. Discuss your experiences and gain insights in sessions that offer real-time translation in multiple languages.
Clinical Features / Phenotypes Meetings
This continues the Loss of Function group and now includes mild GOF families in which behavior and social issues are of major concern.
Clinical Features: Later Onset, Difficulty Controlling Seizures/Medication Issues, Therapies, Motor and Social Skill Challenges
Our Mild/Moderately Impacted Children meetings will primarily focus on the issues of Seizure Control, Medications, Development, and Therapies. This broadens the former groups focused on often moderate GOF variants (e.g. 1617, fast inactivation).
Clinical Features: Early Onset, Global Developmental Delays, Limited Mobility, Refractory, Medically Fragile
Our Severely Impacted Children meetings will primarily focus on the issues important to children who are Non-ambulatory, G/J fed, and have Global Developmental Delays. This formally broadens the former 850 group to establish a clear focus on families with children presenting with similar recurring challenges.
Special Briefings & Topics
Data briefings will be scheduled quarterly and will include updates with Dr. Hammer. We’ll recap new findings from his research based on registry data and updates on the new Consensus Diagnosis & Treatment for SCN8A as they are finalized.
Special sessions will be held around topics of broad interest to the community and will be based on input from the community.
Language Group Meetings
Join our SCN8A network for the Spanish-speaking community held in Spanish! Connect with and ask questions of Dr. Hammer, gain insights into the latest research, treatment options, and coping strategies, facilitated by a human medical translator. Engage with other Spanish-speaking families, share experiences, and find resources uniquely suited to your cultural and linguistic needs. Experience the inclusivity as you connect with Dr. Hammer and the global SCN8A community.
Join our SCN8A network for the Portuguese-speaking community held in Portuguese! Connect with and ask questions of Dr. Hammer, gain insights into the latest research, treatment options, and coping strategies, facilitated by a human medical translator. Engage with other Portuguese-speaking families, share experiences, and find resources uniquely suited to your cultural and linguistic needs. Experience the inclusivity as you connect with Dr. Hammer and the global SCN8A community.
Join our SCN8A network for the Italian-speaking community held in Italian! Connect with and ask questions of Dr. Hammer, gain insights into the latest research, treatment options, and coping strategies, facilitated by a human medical translator. Engage with other Italian-speaking families, share experiences, and find resources uniquely suited to your cultural and linguistic needs. Experience the inclusivity as you connect with Dr. Hammer and the global SCN8A community.
Join our SCN8A network for the Dutch-speaking community held in Dutch! Connect with and ask questions of Dr. Hammer, gain insights into the latest research, treatment options, and coping strategies, facilitated by a human medical translator. Engage with other Dutch-speaking families, share experiences, and find resources uniquely suited to your cultural and linguistic needs. Experience the inclusivity as you connect with Dr. Hammer and the global SCN8A community.
Join our SCN8A network for the Japanese-speaking community held in Japanese! Connect with and ask questions of Dr. Hammer, gain insights into the latest research, treatment options, and coping strategies, facilitated by a human medical translator. Engage with other Japanese-speaking families, share experiences, and find resources uniquely suited to your cultural and linguistic needs. Experience the inclusivity as you connect with Dr. Hammer and the global SCN8A community.
Connect and learn! Network meetings are your place for LIVE support and research updates. SCN8A networks, sponsored by the 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, discuss local resources in your region, learn about the newest SCN8A developments AND connect with other families in your geographic area or families with similar variants.
