International SCN8A Alliance

?? Happy Thanksgiving Wishing all the professionals, advocates, and supporters of the SCN8A community a peaceful and meaningful holiday. ?? From all of us at the International SCN8A Alliance. #Thanksgiving #scn8a #scn8aawareness #scn8aalliance #scn8afamily

?? Meet Solara ?? Solara is the bravest, toughest person you’ll ever meet. Despite facing intense obstacles, she radiates joy with a contagious laugh. Born barely breathing, she spent her first 10 days in the NICU. At 4 months old, life changed when her seizures reached up to 60 a day, leaving her unable to move or make a sound. Through relentless determination, therapies, and the ketogenic diet, Solara has achieved remarkable milestones. Today, she can: ?? Ride a horse with assistance ?? Use a robotic walker and a stander ?? Hold her honey bear to drink through a straw ?? Swim with full assistance Living with severe quadriplegic cerebral palsy, Autism Level 3, and a rare disease hasn’t dimmed Solara’s spirit. She’s preparing for intensive spinal surgery to correct severe scoliosis, and we know she’ll tackle this with the same strength and courage she’s shown her whole life. ?Solara's mom, Lara, want the world to see her little hero to show people the joy one can have living with a rare disease and severe disabilities.??? We need your support to help more people like Solara. Please go https://scn8a.info/give to help families with SCN8A. Thank you! #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aresearch #scn8aalliance #scn8aepilepsy #scn8asuperhero #scn8afamily #scn8aresearchroadmap #scn8adiversity

Join us in helping families with SCN8A. Together, we’re collaborating for a cure! On the Web: https://scn8a.info/give Thank You!

Bridging the Gap: SCN8A Genotype and Phenotype Correlations As experts in epilepsy and neurology, many of you are already well-versed in the complexities of SCN8A disorders. Our video, part of the “SCN8A Unraveled” series, takes a different approach—it’s designed as a resource for families, helping them understand how genetic mutations (genotypes) influence outcomes (phenotypes). In this episode, Dr. Katrine Johannesen explains these correlations in a way that empowers families to better comprehend their child’s condition. For clinicians, this video can serve as a bridge to strengthen communication with families, offering a shared language to discuss these critical topics. We hope you’ll find this tool valuable—not just for your own insights, but as something you can share with the families you support. Together, we can improve understanding, collaboration, and outcomes for everyone impacted by SCN8A disorders. Watch the full 20 minute video: https://lnkd.in/gjhn8nS8 Read the full published article here: https://lnkd.in/gwBsuzDf #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aresearch #scn8aalliance #scn8aepilepsy #scn8afamily #scn8afact

?? Meet Gerard, our 34-year-old SCN8A Superhero from Socabaya, Peru! ?? Hi, I’m Gerard ?? I work as a veterinarian’s assistant and have a deep love for all animals—especially horses, with whom I share a special connection. I’m proud to say I remain autonomous and live life one day at a time, despite the challenges SCN8A brings. I love working with my hands and have many hobbies, including carpentry, mechanics, and crafts. I’m a quick learner and take pride in my skills and ability to adapt. However, living with SCN8A isn’t always easy. I have a Gain of Function SCN8A mutation and strong seizures can make it difficult to face life and work, especially when they appear suddenly and leave me exhausted. Despite these challenges, I’m proud of my achievements. I also navigate dyslexia, ADHD, and ASD1 alongside my SCN8A mutation, but I continue to thrive and find fulfillment in my work and passions. I have an important question for the SCN8A community: What will happen if my seizures become completely uncontrolled? Could I lose abilities and my independence? We need your help to answer my questions and support research that could improve the lives of people like me. Please help by donating to fund treatments and drive critical research that will create a brighter future for everyone living with SCN8A. Your support makes all the difference. ??? ?? Please Help ? https://lnkd.in/g-tvH2dE #SCN8A #SCN8AAwareness #SCN8AStrong #ThisIsSCN8A #CureSCN8A #SCN8AResearch #SCN8AAlliance #SCN8ASuperhero #SCN8AEpilepsy #SCN8AFamily

?? Meet Billy, our 22-year-old SCN8A Superhero from Syracuse, New York! ?? Hi, I’m Billy ?? I’m a social butterfly with a strong personality—I’m loving, social, and empathetic. I live at home and thrive on routines, though change can sometimes be hard to accept. Some of my favorite things include traveling, car rides, and airplane trips. I love watching the news and socializing with everyone I meet! I have a Loss of Function SCN8A mutation. Speech is one of my biggest challenges. I love to socialize, but it’s frustrating when I’m not understood. I sometimes struggle to be with adults, and socializing with kids can be difficult too. Despite these challenges, I’m proud of advocating for myself and making my own decisions. While I always have my family by my side, I enjoy flexing my independence whenever I can. I have some important questions, too. What will happen when I’m no longer able to live with my family, and who will care for me when my mom gets too old? We need your help to find answers for me and others like me in the SCN8A community. Today, we’re raising funds for treatments and research that could improve the future for me and other children and adults living with SCN8A. Your support means everything. ??? ?? Please Help ? https://lnkd.in/g-tvH2dE #SCN8A #SCN8AAwareness #SCN8AStrong #ThisIsSCN8A #CureSCN8A #SCN8AResearch #SCN8AAlliance #SCN8ASuperhero #SCN8AEpilepsy #SCN8AFamily

?? Don't miss a beat when it comes to SCN8A research and community progress! ?? Stay in the loop with key updates, real stories that uplift, and resources that support your journey. Whether you’re a clinician, researcher, or passionate advocate, we make sure you’re in the know about treatment breakthroughs, patient advocacy, and opportunities to contribute to crucial research efforts. Join us today to keep informed and connected with the information that can make a real impact. Together, we can strengthen our community and inspire meaningful progress. ?? https://lnkd.in/gp7H3YS3 #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aresearch #scn8aalliance #scn8aepilepsy #scn8afamily #scn8aresearchroadmap

?? Join Us for an SCN8A Community Dinner at AES 2024 in Los Angeles! ?? Are you attending AES 2024? We’re hosting a special SCN8A Family Dinner on Saturday, December 7th in Los Angeles, and we would be thrilled to have you join us. This is an opportunity to connect with SCN8A families, researchers, clinicians, and pharma partners, all committed to advancing understanding and support for SCN8A. Event Highlights: - Meet and engage with SCN8A families and professionals - Discuss the latest in SCN8A research, advocacy, and care - Strengthen collaborations within the SCN8A and epilepsy/NDD communities ?? Date: Saturday, December 7th at 5:30-8pm ?? Location: Walking distance from the Bonaventure hotel and convention center; exact details will be shared in the coming weeks. ?? Cost: Complimentary for all attendees Please RSVP to confirm your attendance so we can plan accordingly:?scn8a.info/la-dinner-rsvp We hope to see you there and make this a memorable evening of community and connection! #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aalliance #scn8aepilepsy #scn8asuperhero #scn8afamily #scn8a

? Epilepsy Awareness Month ? This month, we come together to raise awareness for all forms of epilepsy, including rare epilepsies like SCN8A. The smiles and stories of our amazing community members, like those featured here, remind us why we fight so hard for progress and understanding. ?? Epilepsy affects over 50 million people worldwide, but it’s essential to highlight the unique challenges faced by families dealing with rare epilepsies like SCN8A-related epilepsy. These conditions bring extraordinary hurdles, but they also showcase incredible strength and resilience. During Epilepsy Awareness Month, we celebrate and support everyone in the epilepsy community. We aim to spread awareness, drive research, and shine a light on those living with seizures, especially those whose battles are often less visible. ?? Together, let’s advocate for better treatments and a brighter future. ?? Every story matters. ??? Every voice counts. ?? Learn more about how you can make a difference in the lives of those with SCN8A epilepsy and developmental disorders: ?? https://lnkd.in/gFmtPHWE? #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aresearch #scn8aalliance #scn8aepilepsy #scn8afamily #epilepsy #epilepsyawareness #epilepsyawarenessmonth #epilepsywarrior #epilepsystrong #epilepsyfighter #endepilepsy #epilepsy

? Caring for a child with SCN8A means supporting an entire family, and these FREE Caregiver and Sibling Kits are here to help. ? The Caregiver Kit includes valuable resources like a seizure action plan, created with rare epilepsy experts, to help parents navigate daily challenges. The Sibling Kits provide age-appropriate tools to help siblings express their feelings and feel valued for their unique role. In fact, studies show that 52-76% of siblings who feel knowledgeable about their sibling's condition report lower anxiety and depression—highlighting the impact of resources like these. Order yours today and discover resources that make a difference for the whole family. ??? bit.ly/scn8a-sibling-kits