MED13L Foundation

Hello Reader, As we approach Thanksgiving, I find myself reflecting on all that has happened in 2025 and my heart is overflowing with gratitude. This year, we asked our community to show up in big ways. We asked you to enroll in RARE-X and Citizen so we could better understand our children. And you did—you made every story count. We asked you to travel to Boston for our Family & Research Meet-Up, to participate in the Natural History Study, EEGs, blood draws, and all the pieces required to...

Hello Reader, Nick and Michelle Seaver here, writing with an unusual ask for the MED13L community. Some of you met our daughter, Sophie, at the conference in July, where she led music therapy sessions. Sophie's twin sister has MED13L. As with many of you, MED13L has defined much of our family’s life, including through our work with the incredible MED13L Foundation. MED13L has shaped Sophie in profound ways. Sophie, a musician, recently submitted two original songs to the EveryLife...

Hello Reader, Some of us are saying goodbye to summer and hello to school and the challenges of new routines, while others may feel like summer slipped away as we sat in therapy rooms and carried on with year-round schedules. However this season looks for you, know that you’re not alone—you have a community that truly understands. I’m so grateful for everyone who came together at our 2025 MED13L Research & Family Meetup in Boston, held alongside the CTNNB1 community. Together, we brought our...

Hello Reader, As we step into June, our mantra of “Make Every Story Count” continues to guide us. Every data point shared, every story told, and every connection made brings us one step closer to answers for MED13L Syndrome. This month, we shine a light not only on our brave MED13L community, but also on the siblings and peers who walk this journey alongside them. Their love, patience, and resilience remind us that every member of our community plays a meaningful role in our collective story....

Hello Reader, This year’s theme, Make Every Story Count, drives us forward. From Rare Disease Day to now, your impact stories on social media and data contributions (via RARE-X and Simons Searchlight) are building community and unlocking the mysteries of MED13L. We celebrate the growing global movement—leaders organizing in new countries to ensure no family stands alone. Whether you walk with us or alongside us, we are stronger together. Today, we honor you, MED13L families, and all you do....

February, 2025 Hello Reader, We’re so excited to invite you to the MED13L Family & Research Meet-up in Waltham, MA, happening July 9th–13th! We are also so excited to announce the meeting is co-hosted with our good friends at CTNNB1 Connect and Cure. Think of it as a mash-up of science, support, and community—where families, researchers, and clinicians come together to learn, connect, and make a difference. Whether you’re sharing stories, swapping ideas, or just soaking it all in, this is one...

December 31, 2024 Dear Reader As we close out 2024, we invite you to share our excitement for what lies ahead for our MED13L community. Because of your past support, we have big plans for 2025. Planning for the 2025 Research and Family Conference is nearly complete, and we look forward to welcoming as many of you as possible! More research is urgently needed to better understand MED13L and to search for treatments that will improve the quality of life for all those affected by the syndrome....

December , 2024 Dear Reader For some, 2024 was a year of excitement, quality family time and learning. For others, especially those in our community who recently received a diagnosis for a loved one, it was a year of uncertainty and perhaps even fear. Because of your past support, the MED13L Foundation has been there all year for everyone in our community. Your gives have turned into resources like support group sessions, online community support and the funding of several promising research...

October, 2024 Hello Reader, Conferences, Conferences, Conferences! The MED13L Foundation has been busy! From attending Global Genes in Kansas City to presenting our Strategic Research Roadmap in Boston, and now planning the 2024 Virtual Research Meeting and 2025 In-Person Family and Research Meet-Up—there’s so much happening! Read on to learn about the exciting research readiness tools we discovered at these conferences and the opportunities for you to dive deeper into MED13L research and...