Updated: Jan 19
Diagnosed with a new rare epilepsy and looking for community? Tips follow from the Rare Epilepsy Network (REN) leaders.
Do a google and Facebook search for the gene looking for a support group, list-serve or existing nonprofit organization. Look beyond your geographic borders as given the rarity of the conditions, groups may be forming around the world. Also be sure to search the gene name, the syndrome name, the OMIN name, including fully spelled out and abbreviations.
If there is no Facebook group and Google turns up nothing, consider looking on Pubmed to find the papers that describe the families. PubMed® comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites. From there, you can reach out to the corresponding author and see if they will connect the families. There needs to be one family that is willing to share their info with the author so they can share it with their families because, of course, the authors cannot reveal information. The researchers can serve as the matchmaker among families if the researcher and families are amenable.
If a group does not exist, consider starting a Facebook group so others can find you. Be sure to alert any clinicians, geneticists and researchers that you have established a Facebook group so they can refer other families to your group. It may take a little time but with the explosion of gene testing and the Internet, groups will gradually build up.
Confirm if your gene is included on epilepsy and other relevant gene panels. You may have to go company by company to confirm inclusion. If it is not, advocate to have it added. Look for inclusion in epilepsy but other relevant panels as well for autism, movement disorders, and more. Additionally, advocate to companies that if someone tests positive for your gene, the company should include information for your nonprofit organization in the report received by the patient.
Advocates can play an important role in collaborating with researchers to apply for an R13 conference grant. Advocates can apply for one yourself to bring together interested researchers along with families (so they can meet outside of the clinic). This is effective for pushing the research arm. Bringing together as many families as you can helps the researchers understand better how the syndrome affects individuals and their families. Publishing the findings from this meeting will help codify what is known presently and be part of the roadmap for building out new knowledge.
Thanks to the following Rare Epilepsy Leaders for their helpful suggestions in the crafting of this blog,
Charlene Son Rigby, STXBP1
Lisa Manaster, CACNA1A Foundation
Lisa Schoyer, RASopathy Network
Tracy Dixon-Salazar, LGS
Vanessa Vogel-Farley, Dup15Q