International SCN8A Alliance

✨ 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

🌟 Stay connected with the latest advancements in SCN8A research and community support! 🌟 Join our newsletter and be part of a network that brings essential updates, inspiring stories, and valuable resources directly to your inbox. Whether you're a clinician, researcher, or advocate, our newsletter provides insights into treatment innovations, patient advocacy, and ways to participate in vital research. Sign up today to ensure you never miss out on information that could make a difference in understanding and managing SCN8A-related disorders. Together, let's empower our community and drive forward positive change! 🔗 https://lnkd.in/gWYEFxYR #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aresearch #scn8aalliance #scn8aepilepsy #scn8afamily #scn8aresearchroadmap

🚀 Watch Now: The SCN8A Research Roadmap - A Community-Driven Effort 🌟 Curious about the future of SCN8A research? 🤔🎥 Check out this short video where Gabi Conecker, Executive Director of the International SCN8A Alliance, shares how the #SCN8A Research Roadmap was created with invaluable input from caregivers, clinicians, scientists, and industry partners. 🧑⚕️👩🔬👨👩👧 ✨ You'll also hear from Jo-Anne Kelly, an SCN8A parent and leader from SCN8A Australia, about the incredible passion and dedication driving this initiative forward. 💪❤️ Together, we’re identifying the most pressing research priorities to help improve the lives of those affected by SCN8A. 🌍💙 Watch now to learn more about this groundbreaking community effort! 📺👇 📖✨ Read More or Watch the recent Roadmap Community Update: ✨🎥 🔗 https://lnkd.in/gng8XErq #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aresearch #scn8aalliance #scn8aepilepsy #scn8afamily #scn8a

✨ Managing Behavioral Challenges: SCN8A Family Meeting Highlights ✨ 💜 In our last SCN8A Family Meeting, we came together to discuss managing behavioral challenges, including those related to SCN8A genetic variants. Families shared their 🗣️ experiences, 💡 insights, and 🛠️ strategies for addressing issues such as seizures, developmental delays, and sensory sensitivities. 🤝 It was a supportive space where participants could connect and exchange advice on therapies, medications, and daily care. 🌟 Check out the word cloud below, highlighting some of the key topics and themes from our discussion! 📊 We're so grateful to everyone who joined and shared their stories. Let’s continue to support each other on this journey! 💜 🗓️ Sign up for meetings here: https://lnkd.in/g4ziJJyA 🗓️ 📣 Stay tuned for a new meeting schedule! 📣 #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aresearch #scn8aalliance #scn8aepilepsy #scn8afamily #scn8a

🌟 Supporting SCN8A Caregivers Worldwide 🌟 Our upcoming meeting is a special space for caregivers to find support and share insights on managing challenging behaviors and collaborating with schools and child care providers. We encourage clinicians to recommend this opportunity to families in their care, helping them connect with a community that truly understands. This session offers: A chance to share experiences and connect with others who truly understand the journey. Insights from families who have navigated similar challenges. Direct interaction with Dr. Hammer and a global community of caregivers. AI-assisted language translation to ensure you can participate comfortably, no matter your language. 📅 Date & Time: October 19, 3-5 PM EDT | 12-2 PM PDT | 9-11 PM CET | October 20, 6-8 AM AEDT 📝 Sign Up Here: https://lnkd.in/gC2j3xgv #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aresearch #scn8aalliance #scn8aepilepsy #scn8afamily

🗣️ Today is SUDEP Action Day 🗣️ 💬 Our recent Global Consensus found that Sudden Unexpected Death in Epilepsy (SUDEP) presents a severe risk for individuals with Severe Developmental and Epileptic Encephalopathy (DEE), and likely others, in the SCN8A population. Both clinicians and caregivers agree that key risk factors include uncontrolled/frequent seizures and generalized convulsive seizures and that discussing SUDEP should be integrated into clinical visits to review both risk and prevention strategies. Raising awareness and facilitating these critical conversations can help reduce the high rate of premature deaths in the SCN8A community. Learn More about SUDEP: https://lnkd.in/g2wb9zm5 More on the recent Global SCN8A Consensus: https://lnkd.in/g3nRSV87 #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aalliance #scn8aepilepsy #scn8afamily #sudep

The SCN8A Research Roadmap builds on critical input from caregivers, who have identified key gaps in SCN8A care and treatment. The biggest priorities include improving seizure control (60% of caregivers), addressing challenges related to gross motor skills, communication, and cognition, and developing more effective treatments with fewer side effects. These findings are driving our efforts to advance research and care for the SCN8A community. By focusing on these caregiver-identified gaps, the roadmap ensures research remains aligned with the real needs of those affected by SCN8A. 🔗 Explore the full findings here: https://lnkd.in/g3wepe93 #scn8a #scn8aawareness #scn8astrong #thisisscn8a #thisisscn8a #scn8aresearch #scn8aalliance #scn8aepilepsy #scn8aresearchroadmap

🌟 Meet Sadie, our 5-year-old SCN8A Superhero from Texas! 🌟 Hi, I’m Sadie 💜 I love expressing myself and getting lots of love and support from my family. I live with my mom, dad, sister, and twin brother! I’m in kindergarten this year and working hard on my verbal communication skills. Some of my favorite things include playing with my dolls, practicing tracing letters, playing dress-up, and drawing. I also love spending time with my dog, Charlie, rabbit, Mopsy, and our Highland cows! 🐾 My biggest challenge is verbal communication. My speech is delayed, but I work hard with speech therapy and use a communication device at school. I also have behavior issues and experience several meltdowns each day, but I keep pushing through! One of my biggest achievements? I’m so proud of my 4 1/2 year stretch of seizure freedom! 🎉 But we still have questions. What are the long-term effects of being on large doses of medication? Could these large doses cause me harm in the future? 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 living with SCN8A. Your support means everything. 💜✨ 🔗 Please Help ✨ https://lnkd.in/g-tvH2dE #SCN8A #SCN8AAwareness #SCN8AStrong #ThisIsSCN8A #CureSCN8A #SCN8AResearch #SCN8AAlliance #SCN8ASuperhero #SCN8AEpilepsy #SCN8AFamily

💜 SCN8A Family & Caregiver Gathering - Challenges of Severely Impacted Children 💜 👨👩👧👦 Join our SCN8A Family Meeting, where families can connect with each other and speak directly with Dr. Michael Hammer. 💡 Gain insights on research, treatments, and coping strategies for families facing the most severe challenges of SCN8A. 📅Date & Time: Saturday October 12, 3:00 pm – 5:00 pm EDT | 12:00 pm – 2:00 pm PDT | 9:00 pm – 11:00 pm CET | October 13, 6:00 am – 8:00 am AEDT 💻 Register Here: scn8aalliance.org/events #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aresearch #scn8aalliance #scn8asuperhero #scn8afamily #scn8aepilepsy #scn8a

✨ Understanding the Functional Impact of SCN8A Variants and Treatment Options ✨ SCN8A controls how some brain cells send electrical signals to each other and acts like a gatekeeper for sodium, helping electricity flow through neurons. 🔬 The function of SCN8A variants is key to predicting treatment responses. Variants are generally categorized as either "gain- of- function" or "loss- of-function," each requiring different treatment approaches. The following guidance is based on our recent global consensus. ⚡ Gain-of-function (GOF) variants are too active, as if the gate is letting too much electricity through, too often, or too quickly. This can overstimulate the brain, causing seizures or abnormal muscle movements because the neurons are firing too much or too fast often leading to seizures, movement disorder and/or developmental delays. For GOF recommended medications include: ✅ Oxcarbazepine and Carbamazepine are optimal first-line treatments. ⚠️ Levetiracetam should be used with caution due to potential negative effects. 🧠 With Loss-of-function (LOF) variants, the gate isn’t letting enough electricity through so the neurons can’t communicate effectively. This can leas to reduced brain activity and cause developmental delays, difficulty moving, or other neurological problems. The recommended treatments include: ✅ Valproate, Ethosuximide, and Lamotrigine as preferred first-line options. ⚠️ Sodium channel blockers should be used with caution, as they may not be effective or could worsen symptoms. 🧬 Choosing the right treatment depends on whether the SCN8A variant is gain- or loss-of-function. Identifying the specific variant helps families manage symptoms and improve outcomes for their loved ones. If you are interested in adjusting your loved one's medications, please connect with their doctor to discuss and reach out if you need any support! 💙 More information can be found at https://lnkd.in/gkeMetBD #scn8a #scn8aawareness #scn8astrong #thisisscn8a #curescn8a #scn8aresearch #scn8aalliance #scn8aepilepsy #scn8afact #supportscn8a