The Voices of MED13L

MED13L Research Update: Where We Are and Where We’re Headed.

In this special research update episode of Voices of MED13L, Rowan Dias opens with reflections from the World Orphan Drug Congress and the MED13L Foundation’s first year participating in the Million Dollar Bike Ride before introducing a recorded community update with Dr. Ricardo Ramirez, Chief Scientific Officer of The MED13L Foundation. Dr. Ramirez walks families through the Foundation’s current research priorities, including natural history studies, adult outcomes, community surveys, biomarkers, drug repurposing, gene therapy, and the path toward future observational studies. He also addresses questions from the MED13L community about speech development, treatment timing, variant types, long-term care, sleep, the gut-brain connection, and how families can participate in research. This episode offers an accessible overview of where MED13L research stands today, why community participation matters, and how the Foundation is working to move science forward with urgency, safety, and the voices of families at the center. Support the show [https://med13l.org/donate/] Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ [https://secure.qgiv.com/event/med13lfoundationp2p/] Profile Frame for Socials: https://twb.nz/med13lfoundation [https://twb.nz/med13lfoundation] Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ [https://med13l.org/research-hub/join-med13l-research-opportunities/med13l-registry-enrollment/] Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l [https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l] Community Checklist: Google Drive Link [https://drive.google.com/file/d/18oPhYD4NtfoOyJbqP7V7NCKnR0tNnX63/view?usp=sharing] CRID: thecrid.org [https://thecrid.org/] Citizen Health: citizen.health/partners/med13l-foundation [https://www.citizen.health/partners/med13l-foundation] Simons Searchlight: https://research.simonssearchlight.org/account/create [https://research.simonssearchlight.org/account/create] Rare-X: rare-x.org/med13l [https://rare-x.org/med13l/] Website: med13l.org [https://med13l.org/] Facebook: facebook.com/med13lfoundation [https://www.facebook.com/med13lfoundation/] Instagram: instagram.com/med... [https://www.instagram.com/med13lfoundation/#]

May is MED13L Awareness Month

An Honest Look at MED13L, Our Community, and the Foundation Behind It MED13L Awareness Month Special | May 2026 This Awareness Month, host Vanessa Dias gets honest — about the spectrum of MED13L, the families the foundation hasn't yet heard from, and what it actually looks like to run a rare disease foundation as a volunteer parent doing the work between therapy drop-offs and bedtime. She also pulls back the curtain on the foundation itself: a small group of volunteer parents, most of them mothers, all of them living a version of the same life you are — and what it would mean for the whole community to lean in just a little more. In this episode: * Updates on the patient census, genetic report uploads, and the Million Dollar Bike Ride in Philadelphia on June 13th * Why those "me too" threads on Facebook need to make their way to the registry * The full spectrum of MED13L — medically, developmentally, and across families * An honest look at who runs this foundation and how the work actually gets done * The hiring of a Chief Scientific Officer and what that means for research Connect & Get Involved:  Want to be featured on the podcast?  Or host your own episode?  Email vdias@med13l.org 🔬 Research opportunities: med13l.org/research-hub/join-med13l-research-opportunities  📄 Latest publications: med13l.org/research-hub/publications  📧 Reach the team: info@med13l.org [info@med13l.org]  🚴 Join the Million Dollar Bike Ride team: June 13th, Philadelphia [https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l]  Support the show [https://med13l.org/donate/] Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ [https://secure.qgiv.com/event/med13lfoundationp2p/] Profile Frame for Socials: https://twb.nz/med13lfoundation [https://twb.nz/med13lfoundation] Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ [https://med13l.org/research-hub/join-med13l-research-opportunities/med13l-registry-enrollment/] Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l [https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l] Community Checklist: Google Drive Link [https://drive.google.com/file/d/18oPhYD4NtfoOyJbqP7V7NCKnR0tNnX63/view?usp=sharing] CRID: thecrid.org [https://thecrid.org/] Citizen Health: citizen.health/partners/med13l-foundation [https://www.citizen.health/partners/med13l-foundation] Simons Searchlight: https://research.simonssearchlight.org/account/create [https://research.simonssearchlight.org/account/create] Rare-X: rare-x.org/med13l [https://rare-x.org/med13l/] Website: med13l.org [https://med13l.org/] Facebook: facebook.com/med13lfoundation [https://www.facebook.com/med13lfoundation/] Instagram: instagram.com/med... [https://www.instagram.com/med13lfoundation/#]

Growing Up With MED13L: Life at 14

Growing Up with MED13L: Life at 14 In this episode of Voices of MED13L, we continue our Growing Up with MED13L series with an honest look at the teenage years. Host Vanessa Dias is joined by Chelsea and Vern Klassen, who share what life looks like today for their 14-year-old daughter, Caitlynn. They offer a candid glimpse into Caitlynn’s world—from her communication journey with AAC and experiences in school to friendships, family dynamics, and increasing independence. Chelsea and Vern also speak openly about the realities of raising a teen with complex needs, including balancing support with autonomy, navigating puberty, and thinking ahead to the future—while celebrating the joy, personality, and strengths that define who Caitlynn is. For families earlier in their MED13L journey, this episode provides something invaluable: perspective on what the teenage years can look like, along with reassurance and hope for the road ahead. 💬 In this episode, we discuss: *  Communication challenges and breakthroughs with AAC  *  School supports and learning in a modified curriculum  *  Social development, friendships, and sibling relationships  *  Independence in daily living and life skills  *  Navigating puberty and healthcare decisions  *  Long-term planning and redefining expectations  💛 A powerful conversation about growth, grief, resilience, and the beauty of meeting your child exactly where they are. Support the show [https://med13l.org/donate/] Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ [https://secure.qgiv.com/event/med13lfoundationp2p/] Profile Frame for Socials: https://twb.nz/med13lfoundation [https://twb.nz/med13lfoundation] Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ [https://med13l.org/research-hub/join-med13l-research-opportunities/med13l-registry-enrollment/] Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l [https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l] Community Checklist: Google Drive Link [https://drive.google.com/file/d/18oPhYD4NtfoOyJbqP7V7NCKnR0tNnX63/view?usp=sharing] CRID: thecrid.org [https://thecrid.org/] Citizen Health: citizen.health/partners/med13l-foundation [https://www.citizen.health/partners/med13l-foundation] Simons Searchlight: https://research.simonssearchlight.org/account/create [https://research.simonssearchlight.org/account/create] Rare-X: rare-x.org/med13l [https://rare-x.org/med13l/] Website: med13l.org [https://med13l.org/] Facebook: facebook.com/med13lfoundation [https://www.facebook.com/med13lfoundation/] Instagram: instagram.com/med... [https://www.instagram.com/med13lfoundation/#]

Growing Up With MED13L: Life at 16

In this episode of Voices of MED13L, we continue our series Growing Up with MED13L with a powerful, in-depth look at the teenage years. Host Vanessa Dias is joined by fellow MED13L parent Michelle Seaver, who shares what life looks like for her 16-year-old daughter today — from communication and learning to socialization, independence, and daily routines. Many families wonder what adolescence might hold for their child with MED13L. Michelle offers an honest and hopeful look at the realities of life at 16: * How her daughter communicates and advocates for herself * What school, friendships, and confidence look like * Where she needs support — and where she shines * How boarding school has helped her grow socially and academically * What independence can look like for teens with MED13L * Why progress is real, just on a different timeline This conversation is grounded, encouraging, and deeply relatable for any family thinking about the road ahead. Michelle also shares insights on therapies, life skills, reading development, and the importance of community — along with a glimpse into future possibilities through programs like Riverview and beyond. Growing Up with MED13L: Life at 16 is part of our ongoing series highlighting lived experiences across childhood and adolescence. For newly diagnosed families or anyone wondering what the future may look like, this episode offers reassurance, perspective, and real stories of growth. Support the show [https://med13l.org/donate/] Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ [https://secure.qgiv.com/event/med13lfoundationp2p/] Profile Frame for Socials: https://twb.nz/med13lfoundation [https://twb.nz/med13lfoundation] Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ [https://med13l.org/research-hub/join-med13l-research-opportunities/med13l-registry-enrollment/] Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l [https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l] Community Checklist: Google Drive Link [https://drive.google.com/file/d/18oPhYD4NtfoOyJbqP7V7NCKnR0tNnX63/view?usp=sharing] CRID: thecrid.org [https://thecrid.org/] Citizen Health: citizen.health/partners/med13l-foundation [https://www.citizen.health/partners/med13l-foundation] Simons Searchlight: https://research.simonssearchlight.org/account/create [https://research.simonssearchlight.org/account/create] Rare-X: rare-x.org/med13l [https://rare-x.org/med13l/] Website: med13l.org [https://med13l.org/] Facebook: facebook.com/med13lfoundation [https://www.facebook.com/med13lfoundation/] Instagram: instagram.com/med... [https://www.instagram.com/med13lfoundation/#]

Why the MIND Study Matters: Building Clinical Trial Readiness for MED13L with Abigail Svedeen, MS, CGC

Why the MIND Study Matters: Building Clinical Trial Readiness for MED13L In this powerful and informative episode of Voices of MED13L, Vanessa sits down with Abigail Sveden, MS, CGC, a genetic counselor at the Boston Children's Hospital and member of the Rosamund Stone Zander Translational Neuroscience Center (TNC). Together, they unpack the critical importance of the MIND Study — MED13L Syndrome Investigation of Natural History and Development — and what it means for families today and for the future of therapeutics. 🧬 What You'll Learn in This Episode: * What translational neuroscience really means — and how lab discoveries move toward real-world treatments * Why natural history studies are essential for clinical trial readiness * How longitudinal data helps researchers understand development over time * The role of neurobehavioral assessments (including the Vineland) in FDA-approved outcome measures * Why standardized data collection is critical for future therapeutics * New clinical observations emerging from the MED13L cohort * How participation today helps prevent future families from facing a “Google search diagnosis” Abigail shares how the TNC brings together experts in genetics, neurodevelopment, EEG, regulatory science, and basic research — all working toward one goal: improving outcomes for individuals with rare neurodevelopmental disorders like MED13L. Vanessa also speaks candidly about the parent experience — the emotional weight of surveys, the importance of being heard, and why documenting your child’s story is one of the most powerful contributions you can make to the community. 📊 MIND Study Snapshot * 🎯 Goal enrollment: 30 participants * ✅ 27 fully enrolled * 📈 24 have completed Year One components * 🔁 Annual follow-up is critical for longitudinal data * 📍 In-person visits at Boston Children’s Hospital prioritized (virtual options available) Participation includes: * Interview-style visits with the study team * Neurobehavioral assessments * Standardized questionnaires (including the Vineland) * Medical record review * Optional photo and biospecimen contribution This data builds the foundation for: * Clinical trial readiness * FDA-accepted outcome measures * Published research to educate physicians worldwide * Future therapeutic development 💛 Why It Matters Every story matters — especially in rare disease. Participation helps: * Define what MED13L looks like across the lifespan * Identify patterns in development, seizures, puberty, motor differences, and more * Inform physicians so families are no longer handed a Google printout * Build the roadmap toward future treatments Hope is built on data.  Data is built by families. 🔬 Additional Research Opportunities If the MIND Study is full, there are other ways to participate: * MED13L Census (homepage of med13l.org) * Simons Searchlight * Rare-X * Citizen Health (5-minute registration that helps collect medical records) Links are available on the MED13L Foundation research page and below. 📩 Interested in the MIND Study? To learn more or inquire about participation, contact: Abigail Sveden, MS, CGC 📧 abigail.sveden@childrens.harvard.edu Support the show [https://med13l.org/donate/] Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ [https://secure.qgiv.com/event/med13lfoundationp2p/] Profile Frame for Socials: https://twb.nz/med13lfoundation [https://twb.nz/med13lfoundation] Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ [https://med13l.org/research-hub/join-med13l-research-opportunities/med13l-registry-enrollment/] Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l [https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l] Community Checklist: Google Drive Link [https://drive.google.com/file/d/18oPhYD4NtfoOyJbqP7V7NCKnR0tNnX63/view?usp=sharing] CRID: thecrid.org [https://thecrid.org/] Citizen Health: citizen.health/partners/med13l-foundation [https://www.citizen.health/partners/med13l-foundation] Simons Searchlight: https://research.simonssearchlight.org/account/create [https://research.simonssearchlight.org/account/create] Rare-X: rare-x.org/med13l [https://rare-x.org/med13l/] Website: med13l.org [https://med13l.org/] Facebook: facebook.com/med13lfoundation [https://www.facebook.com/med13lfoundation/] Instagram: instagram.com/med... [https://www.instagram.com/med13lfoundation/#]