International SCN8A Alliance

?? Today is Rare Disease Day and We're Shining a Light on SCN8A and the Rare Disease Community ?? Today, on Rare Disease Day, we recognize the over 300 million people worldwide living with a rare disease—including those affected by SCN8A-related disorders. With fewer than 1,000 known cases globally, SCN8A is an ultra-rare disorder that demands urgent research, clinical advancements, and advocacy. At the International SCN8A Alliance, we are working tirelessly to: ?? Advance cutting-edge research to improve treatments and outcomes. ?? Advocate for policy changes that increase access to care. ?? Build a global network of families, clinicians, and researchers driving solutions. SCN8A research doesn’t just impact our community—it has far-reaching implications for epilepsy, neurodevelopmental disorders, and even broader neurological conditions. ?? Every discovery brings us one step closer to better treatments—not just for SCN8A, but for many other conditions rooted in brain function. ?? Join us in spreading awareness and making an impact. Support rare disease research, share this post, and help us push for a future where no family faces a rare disease alone. ?? Learn more about our work at https://scn8a.info #RareDiseaseDay #SCN8A #RareButMighty #CureSCN8A #EpilepsyAwareness #RareEpilepsies #SCN8AFamily #CollaborationForACure #Neuroscience #EpilepsyResearch #SCN8AAwareness #SCN8AStrong #ThisIsSCN8A #SCN8AAlliance #SCN8AResearch #SCN8AEpilepsy #SCN8AAwarenessDay #SCN8ASuperhero #SCN8AResearchRoadmap #SCN8ADiversity #SCN8AStories

?? Advancing the National Plan for Epilepsies ?? The International SCN8A Alliance is driving real change for SCN8A families and the broader epilepsy community by helping to lead the National Plan for Epilepsy Act (S. 494 & HR 1189)—a bipartisan initiative designed to: ? Accelerate research toward precision treatments ? Improve patient care pathways and diagnosis timelines ? Expand access to life-saving therapies At a recent congressional briefing, Senator Eric Schmitt joined SCN8A Executive Director Gabi Conecker and other advocates to push for meaningful change. Gabi shared: "Kids like mine spend far too much time in hospitals where doctors don’t know what to do next. We need a national strategy to translate research into life-saving treatments." A National Plan means better collaboration, faster innovation, and direct benefits for the neurology and epilepsy community—but we need your help to make it happen. ?? We urge policymakers, clinicians, and researchers to stand with us in supporting this critical legislation. ?? Take action & contact your legislators: https://lnkd.in/dticE9HB Learn more about this bipartisan effort: https://lnkd.in/gjp6p2Mq Together, we can create a future with faster diagnoses, more targeted treatments, and real hope for families affected by epilepsy. #EpilepsyResearch #SCN8A #Neurology #Epileptology #EpilepsyAdvocacy #NationalPlanForEpilepsy #PrecisionMedicine #RareEpilepsies #MedicalInnovation

?? Expanding Access to SCN8A Care ?? We’re excited to announce a new SCN8A/SCN2A Multidisciplinary Clinic at Children’s Hospital Colorado, led by Dr. Megan Abbott! This clinic expands expert care alongside Children’s National Hospital (D.C.), where Dr. John Schreiber leads another multidisciplinary clinic—helping families navigate complex medical needs with: ? Specialists across epilepsy, genetics, GI & more ? Coordinated, patient-centered care ? Opportunities to advance SCN8A/SCN2A research "Families shouldn’t have to navigate SCN8A alone," says Gabi Conecker, SCN8A Alliance President. This is a major step forward in expert care & research acceleration! ?? Learn more: https://lnkd.in/gHPaKRz9 #SCN8A #SCN2A #EpilepsyResearch #RareEpilepsy #MultidisciplinaryCare #PediatricNeurology

?? Celebrate Rare Disease Month & Rare Disease Day on February 28th! ??? ?? Get Involved! Our SCN8A Community Art Auction is open for submissions! Whether you’re an artist, a supporter, or part of the SCN8A community, everyone can participate! We welcome all forms of creativity—including assisted artwork from those living with SCN8A, handmade crafts, paintings, photography, and more. Every contribution helps fund critical SCN8A research and supports families around the world. Let’s make this a celebration of creativity, connection, and impact! ?? Submit your artwork today:?https://lnkd.in/gFFmp2sT Find out more about the art auction at https://lnkd.in/g6thZBHH

We are excited that Gabi, our Executive Director, will be sharing the stage with remarkable people doing work in the rare disease space this afternoon bringing SCN8A to a larger, broader audience.

We’re pleased to announce a new publication in Therapeutic Advances in Rare Disease highlighting the International SCN8A Alliance’s collaborative efforts with clinicians, researchers, and industry partners. The article—"Patient leadership and partnerships accelerate therapies for SCN8A and other developmental and epileptic encephalopathies"—demonstrates how coordinated data sharing (via the International SCN8A Registry), scientific meetings, and global consensus guidelines are driving critical breakthroughs. ?? Want to learn more about the latest SCN8A research and its impact on therapies? Read the full article here: https://lnkd.in/gBGxfWCb, or explore resources at www.SCN8A.info. Let’s continue working together to improve outcomes for individuals living with rare epilepsies! ?? #scn8aawarenessday #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aalliance #scn8aresearch #scn8aepilepsy #scn8afamily #scn8asuperhero #scn8aresearchroadmap #scn8adiversity #scn8astories

?? Meet Kiya: A Beautiful Child in the SCN8A Community! ?? Kiya is a joyful, loving 9-year-old with a contagious laugh and a passion for singing! ??? This year, she had her very first choir concert and absolutely shined on stage. Her kindness and warm heart make her a friend to everyone she meets. ?? Despite her incredible spirit, Kiya faces challenges like fatigue, making daily activities and school extra tough. Simple tasks like writing can be exhausting, and she often needs her wagon for breaks. But through it all, she continues to push forward and inspire those around her. Biggest Milestone: Kiya has been seizure-free for FOUR years! She’s also making steady progress in school, learning more each day. Are you a neurologist or epileptologist treating SCN8A patients like Kiya? Expand your reach by joining the Global SCN8A Clinicians Network, collaborating on best practices and upcoming case conferences. Reply below or message us directly to get involved. #scn8aawarenessday #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aalliance #scn8aresearch #scn8aepilepsy #scn8afamily #scn8asuperhero #scn8aresearchroadmap #scn8adiversity #scn8astories

We are so excited for this event and thrilled that our Executive Director, Gabrielle Conecker, will be speaking at this momentous event on behalf of SCN8A families and the broader rare epilepsy community.

?? Monday, February 10th, 2025, is International Epilepsy Day! ?? Epilepsy is more than just seizures—it impacts daily life in countless ways. This International Epilepsy Day, we join the global epilepsy community in raising awareness and advocating for better care, inclusion, and research. This year’s focus is on closing the treatment and inclusion gaps as part of the World Health Organization’s 10-year Global Action Plan (IGAP). By 2031, the goal is to: ? Expand epilepsy care by 50% worldwide ? Ensure 80% of countries have laws that protect the rights of people with epilepsy ??? From the SCN8A community, we are spotlighting Ksawier, our SCN8A Superhero from Poland! Ksawier’s love for life shines bright, even as he faces the challenges of epilepsy and other conditions caused by the SCN8A gene. His mother, Agnieszka, shares: “When he smiles, all the heavy past becomes insignificant… He fights, and I know that I will never give up either.” ??Thank you, Ksawier, for inspiring us with your strength and joy!?? ?#MyEpilepsyJourney #InternationalEpilepsyDay #EpilepsyAwareness #ClosingTheGap #IGAP #EndEpilepsy #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aalliance #scn8aepilepsy #scn8afamily #scn8asuperhero #scn8aresearchroadmap #scn8adiversity #scn8astories #scn8afact

?? TODAY is International SCN8A Awareness Day! ?? Join us TODAY at 11 AM EST for our annual global gathering, where we will discuss the State of SCN8A—the progress we’ve made, the challenges we face, and the path forward for better treatments and a cure. SCN8A is more than just a rare disorder—it’s a critical brain gene that plays a key role in regulating electrical signaling. Research into SCN8A doesn’t just impact our community—it has the potential to drive discoveries for traumatic brain injury (TBI), other epilepsies, neurodevelopmental disorders, and even neurodegenerative diseases. This is more than just a meeting. It’s a moment for our global SCN8A community—families, clinicians, researchers, and industry partners—to come together, share experiences, and drive the conversation forward. ?? With live two-way translation in 50+ languages, every voice matters. ?? Join us: https://lnkd.in/guGMD4Up ?#scn8aawarenessday #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aalliance #scn8aresearch #scn8aepilepsy #scn8afamily #scn8asuperhero #scn8aresearchroadmap #scn8adiversity #scn8astories