SCN8A Family Science & Support Meetings
We offer SCN8A family that are open to anyone who wishes to join so that everyone can learn about genetics and contribute to accelerating treatments for our children. These groups are run by two SCN8A parents: Dr. Michael Hammer, father to Shay and the geneticist who discovered SCN8A as pathogenic for epilepsy in humans in 2012 and Gabrielle Conecker, mother to Elliott and Co-Founder of Wishes for Elliott. Families who go to these meetings will have personal access to consults with Dr. Hammer, who shares SCN8A registry data and special briefings.
The mission of our partnership is to bring families together with a wide range of stakeholders to better understand the genetics behind SCN8A and to collaborate toward finding a cure.
We are pleased to share a planned restructuring of the International SCN8A Alliance network meetings to better meet the needs of more SCN8A families. As many of you know, nearly weekly meetings have been hosted by Dr. Hammer and Gabi, offering quarterly sessions by various regions, recurrent variants, languages, and special caretaker groups. These sessions have provided powerful “bi-directional learning” where Dr. Hammer provides data from recent analyses from the Registry, families share updates, and discussion helps identify emerging priorities for research and learning.
To respond to frequent requests for additional groupings and to better serve the global community, we are planning a realignment of topics for the first 8 months of 2023. The new schedule will include the following opportunities. And please recall, while we are making these groups to help guide conversation and learning, anyone is welcome to join any meeting, anytime.
Our main goal is to learn as much about SCN8A as we can and we use these meetings to learn from you, as citizen scientists.
Much of what we discuss comes from what we’ve learned from the dedicated SCN8A Registry operated by Dr. Michael Hammer. The data from the Registry is playing a critical role in helping bring new SCN8A targeted treatments to our children.
The more you share, the more we learn!
Phenotypes/Major Presenting Issues
Severe: 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.
Moderate: 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).
Loss of Function and/or Behavioral/Social Issues
- This continues the Loss of Function group and now includes mild GOF families in which behavior and social issues are of major concern.
Caregiver Groups
- General Caregivers Community
- Dad’s Group
- Newly Diagnosed Community
Language Groups
- Spanish
- Portuguese
- English International
- Rotating Language Meetings
NEW: Special Briefing and Topics
Updated Data Briefings (e.g. on Registry, Treatment Guidelines)
- Data briefings will be scheduled quarterly and will include updates where Dr. Hammer will recap new findings from his research based on registry data and updates on the new diagnosis and treatment guidelines as they are finalized.
Open Special Topic Session (e.g. GI/Nutriceuticals)
- Special sessions will be held around topics of broad interest to the community and will be based on input from the community.
