The Costs of Rare: Everylife Foundation recently hosted a Rare Disease Congressional Caucus Briefing where they released a report titled “The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study” (2023) The report provides an in-depth analysis of the avoidable costs associated with seven rare diseases. Although the rare epilepsies were not specifically among the diseases analyzed in the most recent report, several of the disorders include seizures as part of their symptoms. These findings are generalizable to the rare epilepsies and highlight why we need the earliest, most complete possible diagnosis and treatments. The economic costs (and countless other emotional, physical, and psychological burdens) on individuals, caregivers, and the health care system are significant and staggering. The new study was a follow-up to Everylife Foundation's landmark 2021 “National Economic Burden of Rare Disease Study” which included many REN disorders including Angelman, Syngap, PMS, FoxG1, Sturge Weber, TSC, Aicardi, CDKL5, Dravet, GNAO1, LGS, Ohtahara, SCN8A, STXBP1, West, Batten, and others. Recent publications reiterate the case for the diagnostic and treatment value of genetic testing in both infants and adults. There is an economic argument as well. We need genetic and other diagnostic testing early and accessible to all persons who experience seizures. Expedited diagnosis and treatment may help minimize downstream effects, losses, and costs when those are delayed. Researchers Going the Extra Mile. Thanks to Dr. Dennis Lal and other collaborators for bringing our attention to interactive websites for families, clinicians, and researchers dedicated to comprehending several rare epilepsy disorders. Check out portals for: SLC6A1, GRIN, SCN, SCN1a and more. |
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More news from #IEC23. Another article of interest out of ICE#23 was a genetic study coordinated by the International League Against Epilepsy Consortium on Complex Epilepsies that discovered changes in DNA that increase the risk of developing epilepsy. Read the article in Nature Genetics here. This understanding is key to the development of new interventions and a testament to the value of international collaboration. ILAE press release is here. |
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REN Leaders on the Move... Always incredible to see REN leaders presenting and networking during Global Genes meeting. And more leaders from our network at Chan Zuckerberg below. |
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REN Supports Other Epilepsy Wide Initiatives like SUDEP Awareness. Learn more about SUDEP Action Day (Oct. 18) where Epilepsy Foundation and Partners Against Mortality in Epilepsy including Danny Did Foundation, American Epilepsy Society, Canadian Epilepsy Alliance, CURE Epilepsy, Dravet Syndrome Foundation, Epilepsy Alliance of America, Epilepsy Canada, and The Cameron Boyce Foundation are talking about about SUDEP and risk prevention. This year’s theme is My Safety Matters. Tool kits area available. Help spread the word: HERE Registration has opened for the 2023 PAME Conference on Thursday, November 30th. There is also a special session for bereaved families, people with epilepsy, and advocates scheduled for Wednesday, November 29th. There is a special session on mortality and rare epilepsies including REN leaders as panelists. |
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Welcome NEW REN Member... Shine Syndrome Foundation! We hope you will take the time to learn about SHINE Syndrome, or DLG4 Synaptopathy. It is an ultra-rare disease caused by a genetic mutation on the 17th Chromosome. Patients living with SHINE Syndrome typically endure trouble with Sleep Disturbances, Hypotonia, Intellectual Disabilities, Neurological Disorders, and Epilepsy, thus the name “SHINE”. |
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Connecting Patients & supporting REN Members... REN fielded patient requests for information and support regarding GRCh37 gene, EEF1A2, WWOX, Doose, Sunflower Syndrome, satb2gene, Tatton Brown Rahman Syndrome, and more. We also fielded multiple industry partners and clinicians inquiries. We make multiple referrals for information and support to REN Members each month. And REN's Members Only list-serve was relied upon for discussions key to our members. |
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REN is now on Linked In... Stay abreast of newsletters and other updates by following us on: https://www.linkedin.com/company/rare-epilepsy-network-ren/ We are excited to connect! Help us spread the word about the rare epilepsies by sharing our newsletter and socials with colleagues and friends. |
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With Gratitude, REN Coordinating Committee PS: MEMBERS ONLY: See you October 30th at 1 PM ET. |
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Help Clinicians & Researchers Gather Inputs |
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REN often collaborates with academic clinicians, researchers, and PAGs to disseminate surveys and other tools to deepen our understanding of rare epilepsies. We encourage you to share these with your constituents and colleagues where feasible. Have survey or other opportunity you would like to share with REN? Contact: iinfo@rareepilepsynetwork.org |
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The Inchstone Project Is conducting a DEE-wide caregiver survey to provide the foundation of caregiver priorities in their efforts to develop a new set of DEE-adapted Clinical Outcome Assessments. New tools are needed to capture the small but meaningful “inchstones” or new skills our children achieve. More sensitive measures are also critical to the success of the ever growing number of disease-altering treatments being brought to trial. In short, we can’t have Precision Medicine without Precision Measurement. If companies are promising - and maybe even delivering improvements in the many non-seizure outcomes then tools are required that can measure them! We are approaching over 200 submissions from 20 different disease areas. Thanks to all who have circulated the need and opportunity to your families. Groups with 20 completed surveys will receive a summary of their community's data - on priorities, ability levels, and the performance of several existing tools in measuring their children’s progress. Almost all our children affected by DEEs are now eligible - merely noting the existence of communication challenges! For more information, contact Sara at learn@deepconnections.net. The survey has been extended through the end of October. |
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REN joined the American Brain Coalition and others on the BRAIN Initiative Sign-on letter requesting robust funding for the BRAIN Initiative in Fiscal Year 2024, emphasizing that the Initiative is revolutionizing our understanding of the human brain and making progress toward treatments and cures for numerous diseases and disorders. Additionally, the letter states that any funding cuts to the BRAIN Initiative will have a damaging effect on neuroscience research. You can see the letter here. |
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Want More Funding for the epilepsies especially the Rares? Join Epilepsies Action Network (EAN) on November 2 at 4 PM ET to strategize fall advocacy targets and tactics. Register here. And Save The Date - Nov 14th - for a Congressional Briefing on the Epilepsies with the bipartisan new Epilepsy Caucus. Stay informed here. |
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Upcoming conferences for Rare Leaders and Your Communities. Any other conferences on your radar? Please share with info@rareepilepsynetwork.org. Disease focused scientific and patient conferences may be shared on REN's member only list-serve. |
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Funding for Rare Epilepsy Research |
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Rare Disease Days - Spreading Awareness |
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Resources @ Your Fingertips |
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Visit REN's website for resources and links to our partners. A few key resources from our members include: |
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Got Research Grants? Looking for Data? |
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The REN registry includes data for 1459 patients across 40 diseases! To access data for comorbidities, developmental milestones, seizure medications, side effects, seizure history and more, visit https://portal.rdca.c-path.org. Support is available to navigate accessing the REN data. |
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The Epilepsy Research Connection (ERC) is a repository of epilepsy research funding opportunities from non-profit and government organizations. Investigators can also register to receive new funding announcements. If your organization is interested in posting a grant notice on the Epilepsy Research Connection, please contact info@epirc.org for instructions. |
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Sign up here to receive this monthly enewsletter in your inbox! Visit our Website | Become a REN Member | Connect on Linked In | Follow on Twitter Share news, information and more to info@rareepilepsynetwork.org Rare Epilepsy Network (REN) working with urgency to improve outcomes of rare epilepsy patients and families by fostering patient-focused research and advocacy. |
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