As a parent, rare epilepsy organization co-founder, and lifelong advocate, I undertook a Rare Epilepsy Landscape Analysis (RELA) (bit.ly/RELAanalysis) and (https://bit.ly/RELAappendix) in 2019. The RELA identified 75 Rare epilepsy organizations (there are over 100 today!) and developed a 111 question survey developed by and for the Rare epilepsy organizations and other key stakeholders. 44 rare epilepsy organizations participated illuminating their priorities and challenges across 5 key domains including information & support, research, professional education, advocacy. and operations.
Despite many different underlying causes, disease incidence and prevalence, and organization resources and maturity, this first-of-its-kind analysis found that Rare organizations were struggling with many similar challenges and aligned across many collaborative opportunities. Three 3 areas of shared priorities, obstacles, and collaborative solutions that rely on basic, clinical and translational research follow below. Additionally, an editorial titled Raring for Change was published in Epilepsy & Behavior, Epilepsy Behav. 2020 Oct; 111: 107276. (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7395595/)
- The Rares prioritize connecting patients to specialists to expedite diagnosis and ensure the most up-to-date care. Broadly dispersed patients as well as a broad spectrum of patients even within each disease and lack of professional collaboration are roadblocks to this priority. The Rares are aligned in creating rare centers of excellence and establishing multi-disciplinary clinics.
- The Rares prioritize understanding the mechanism of their diseases, developing natural history registries, and funding translational research. Connecting researchers to seed collaborations, acquiring sufficient patient data for clinical trials, and access to funding are among the most prevalent challenges. The Rares are aligned in developing resources like registries, biorepositories and other tools that could be used across diseases. They also see opportunities to co-develop clinical quality care scales for use across diseases.
- The Rares prioritize updating researcher thinking on rare conditions, educating professionals to detect and diagnose disease, and developing and disseminating best clinical practices. Small patient numbers, disparate experts, the underutilization of genetic and imaging testing to accurately and expeditiously diagnose patients, and unwillingness among some clinicians to learn beyond their scope of practice presents roadblocks. The Rares are aligned in developing and disseminating clinical diagnostic, evaluation and treatment guidelines as well as outreach/training/education to medical trainees and across multiple disciplines including geneticists, psychiatrists, neuropsychologists, endocrinologists etc.
Research investment and advances in genetics, imaging, and basic science accelerated the diagnosis of rare epilepsies. Precision medicine offers future promise for many of these diseases. However, to realize that promise we need investments in the infrastructure and tools now. With 100's of diseases, our community needs to find ways to be more efficient in developing resources that cut across the rare epilepsies.