MED13L Foundation

En Español A Message from our CSO: Katie Boychuck (Board Chair) with son, Collin, and Ricardo Ramirez, PhD (CSO) Dear MED13L Community, I recently had the privilege of meeting with two MED13L mothers during a Roadshow here in Boston. I am deeply grateful for the time they dedicated to expanding our biorepository, but even more meaningful were the conversations we shared about their families, their experiences, and how the MED13L Foundation can continue to better support our community. Those...

Hello MED13L Community, June feels like a turning point. May was a big month for us. You all raised nearly $10,000 during MED13L Awareness Month, and I am still incredibly moved by that. Every fundraiser, every share, and every dollar came from someone who showed up for this community with purpose. Thank you. What I want you to see in this newsletter is what that energy is helping make possible. The Clinical Care Resource Packet that a Notre Dame student team developed with us this spring is...

Hello MED13L Community, As we've moved through May, we want to take a moment to recognize the incredible strength, advocacy, and generosity of the MED13L community. May is MED13L Awareness Month, and every fundraiser created, donation made, story shared, and conversation started helps move research and awareness forward in meaningful ways. To all of our families, supporters, advocates, and donors — thank you. Your continued support is helping build real momentum for MED13L research, clinical...

May 13th is a very special day for all of us – I want to take a moment to reflect on what this community has made possible. We all remember the day we received the diagnosis and how it changed everything. Whether there was a sigh of relief or a hint of grief, it goes without saying that we are all changed by that moment. Families facing a MED13L diagnosis often experience uncertainty and long diagnosis periods. But connection changes everything and helps turn stories into science. As we...

Hello Reader, As we turn the page to May, our focus sharpens on something that unites and drives our entire community forward: awareness. May is World MED13L Awareness Month, and on May 13th, we recognize MED13L Day: a powerful moment to elevate our voices, share our stories, and expand the reach of this community in meaningful ways. Awareness is not just about visibility; it is what fuels research, strengthens advocacy, and brings new families into a network of understanding and support....

Hello Reader, As we moved through March, I’ve been inspired by the energy and engagement across the MED13L community. Every survey completed, every story shared, and every event attended strengthens our collective voice and accelerates progress. This month, that energy took shape in action. We have been expanding opportunities for families to participate in research closer to home through our partnership with the COMBINEDBrain Road Show, bringing biospecimen collection (blood, stool, and...

Hello Reader, As we move through February, I am energized by the momentum building across the MED13L community. Rare Disease Month reminds us that visibility changes outcomes. When we show up in research, in policy, and in public awareness, we accelerate progress. This month reflects that momentum in action. Sophie Seaver is representing MED13L in Washington, D.C. at Rare Disease Week on Capitol Hill, sharing her story and her music on a national stage. Advocacy like this ensures our...

Hello Reader, As we begin a new year, I am filled with optimism for what lies ahead for the MED13L community. January is a time for intention setting, reflecting on what we’ve built together, and preparing for the opportunities that will move us closer to meaningful therapies, stronger connections, and greater visibility for MED13L Syndrome. February is especially important as we recognize Rare Disease Month. It is a powerful opportunity to spread awareness and continue building momentum...

Hello Reader, As we close out 2025, I am filled with gratitude for a year defined by real progress and shared purpose. When we asked you to help us Make Every MED13L Story Count, you showed up and together we turned lived experience into measurable impact. This year, MED13L reached important milestones. We published the first ever MED13L GeneReview, expanded research readiness through biomarker development, EEG data collection, and our biorepository, and for the first time funded genetic...