The Voices of MED13L

The MED13L Foundation
  • 5.0 (3)
  • Life Sciences

"The Voices of MED13L" is a podcast dedicated to raising awareness, sharing stories, and building community around MED13L syndrome—a rare genetic disorder that affects development and communication. Each episode highlights the voices of families, experts, and advocates working to understand and navigate life with MED13L. From personal journeys and medical insights to educational tools and research updates, the podcast offers hope, support, and connection for anyone impacted by this rare condition. Whether you're a parent, professional, or simply curious, "The Voices of MED13L" is a space to listen, learn, and stand together in the face of the unknown. Visit us at www.med13l.org  Follow us on Instagram & Facebook: @med13lfoundation X: @med13l_fdn

  1. Jun 15

    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 Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ Profile Frame for Socials: https://twb.nz/med13lfoundation Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l Community Checklist: Google Drive Link CRID: thecrid.org Citizen Health: citizen.health/partners/med13l-foundation Simons Searchlight: https://research.simonssearchlight.org/account/create Rare-X: rare-x.org/med13l Website: med13l.org Facebook: facebook.com/med13lfoundation Instagram: instagram.com/med...

    1h 6m

  2. May 11

    May is MED13L Awareness Month

    An Honest Look at MED13L, Our Community, and the Foundation Behind It Season X | 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 13thWhy those "me too" threads on Facebook need to make their way to the registryThe full spectrum of MED13L — medically, developmentally, and across familiesAn honest look at who runs this foundation and how the work actually gets doneThe hiring of a Chief Scientific Officer and what that means for researchConnect & 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  🚴 Join the Million Dollar Bike Ride team: June 13th, Philadelphia Support the show Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ Profile Frame for Socials: https://twb.nz/med13lfoundation Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l Community Checklist: Google Drive Link CRID: thecrid.org Citizen Health: citizen.health/partners/med13l-foundation Simons Searchlight: https://research.simonssearchlight.org/account/create Rare-X: rare-x.org/med13l Website: med13l.org Facebook: facebook.com/med13lfoundation Instagram: instagram.com/med...

    23 min

  3. Apr 16

    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 Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ Profile Frame for Socials: https://twb.nz/med13lfoundation Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l Community Checklist: Google Drive Link CRID: thecrid.org Citizen Health: citizen.health/partners/med13l-foundation Simons Searchlight: https://research.simonssearchlight.org/account/create Rare-X: rare-x.org/med13l Website: med13l.org Facebook: facebook.com/med13lfoundation Instagram: instagram.com/med...

    36 min

  4. Mar 13

    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 herselfWhat school, friendships, and confidence look likeWhere she needs support — and where she shinesHow boarding school has helped her grow socially and academicallyWhat independence can look like for teens with MED13LWhy progress is real, just on a different timelineThis 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 Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ Profile Frame for Socials: https://twb.nz/med13lfoundation Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l Community Checklist: Google Drive Link CRID: thecrid.org Citizen Health: citizen.health/partners/med13l-foundation Simons Searchlight: https://research.simonssearchlight.org/account/create Rare-X: rare-x.org/med13l Website: med13l.org Facebook: facebook.com/med13lfoundation Instagram: instagram.com/med...

    31 min

  5. Mar 3

    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 treatmentsWhy natural history studies are essential for clinical trial readinessHow longitudinal data helps researchers understand development over timeThe role of neurobehavioral assessments (including the Vineland) in FDA-approved outcome measuresWhy standardized data collection is critical for future therapeuticsNew clinical observations emerging from the MED13L cohortHow 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 teamNeurobehavioral assessmentsStandardized questionnaires (including the Vineland)Medical record reviewOptional photo and biospecimen contributionThis data builds the foundation for: Clinical trial readinessFDA-accepted outcome measuresPublished research to educate physicians worldwideFuture therapeutic development💛 Why It Matters Every story matters — especially in rare disease. Participation helps: Define what MED13L looks like across the lifespanIdentify patterns in development, seizures, puberty, motor differences, and moreInform physicians so families are no longer handed a Google printoutBuild the roadmap toward future treatmentsHope 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 SearchlightRare-XCitizen 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 Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ Profile Frame for Socials: https://twb.nz/med13lfoundation Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l Community Checklist: Google Drive Link CRID: thecrid.org Citizen Health: citizen.health/partners/med13l-foundation Simons Searchlight: https://research.simonssearchlight.org/account/create Rare-X: rare-x.org/med13l Website: med13l.org Facebook: facebook.com/med13lfoundation Instagram: instagram.com/med...

    42 min

  6. Feb 12

    Growing Up With MED13L: Life at 11

    Growing Up with MED13L: Life at 11 (with Anna Fracalossi) Welcome back to The Voices of MED13L, the official podcast of the MED13L Foundation. I’m Inon Shampanier—dad to a child with MED13L and your host for today’s episode, as we continue our Growing Up with MED13L series, where families share what daily life looks like at different ages and stages. In this episode, we’re joined by MED13L parent Anna Fracalossi, mom to Elisa (11). Anna shares their long diagnostic journey—first noticing developmental delays around six months, moving from Brazil to the United States, navigating years of therapies and specialist visits, and finally receiving an MED13L diagnosis through exome sequencing when Alisa was seven. Anna then brings us into Alisa’s life today at age 11: her routines, therapies, and the joys she’s found through movement and community—swimming, tennis, and Miracle League baseball. We also talk candidly about behavioral rigidity, emotional regulation, and how ABA has helped Alisa build tools to communicate feelings, shorten the intensity of tantrums, and navigate frustration. A highlight of the conversation is Alisa’s transition to middle school, where she participates in a more inclusive academic setting alongside typically developing peers—with thoughtful supports in place. Anna shares what that transition has looked like socially and academically, and why peer role models have mattered so much for Alisa’s growth and independence. This episode is also filled with hope: Anna reflects on Alisa’s steady progress in communication (from no words to full sentences), her love of the arts—music, ballet, opera, and visual art—and the new developmental milestones of preteen life: growing independence, shifting interests, and emerging self-advocacy. Above all, Anna offers a powerful message to families who are new to MED13L: be gentle with yourself, allow space for grief and change, and trust that over time you can rebuild expectations into something grounded in joy, connection Support the show Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ Profile Frame for Socials: https://twb.nz/med13lfoundation Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l Community Checklist: Google Drive Link CRID: thecrid.org Citizen Health: citizen.health/partners/med13l-foundation Simons Searchlight: https://research.simonssearchlight.org/account/create Rare-X: rare-x.org/med13l Website: med13l.org Facebook: facebook.com/med13lfoundation Instagram: instagram.com/med...

    1h 1m

  7. Jan 14

    Growing Up With MED13L: Life at 12

    Growing Up With MED13L: Life at Age 12 In this episode of The Voices of MED13L, we launch our new Growing Up With MED13L series with a powerful and honest conversation titled “Life at 12.” Host Vanessa is joined by fellow MED13L parent Katie Johnston, mom to Addie, a bright, confident 12-year-old living with MED13L syndrome. Katie shares Addie’s journey to diagnosis at age nine and reflects on what life looks like today—academically, socially, emotionally, and at home. From navigating special education services and IEP advocacy, to communication challenges, puberty, independence, friendships, and sibling dynamics, this episode offers a real-world look at the joys and complexities of raising a preteen with MED13L. Listeners will hear how receiving a diagnosis brought clarity, community, and renewed strength for advocacy, as well as practical insights on therapies, AAC use, school placement, routines, and fostering independence. Katie also speaks candidly about acceptance, hope, and what she envisions for Addie’s future. This episode is especially meaningful for families wondering what the MED13L journey can look like beyond early childhood—and a reminder that while every child’s path is different, none of us walk it alone. Support the show Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ Profile Frame for Socials: https://twb.nz/med13lfoundation Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l Community Checklist: Google Drive Link CRID: thecrid.org Citizen Health: citizen.health/partners/med13l-foundation Simons Searchlight: https://research.simonssearchlight.org/account/create Rare-X: rare-x.org/med13l Website: med13l.org Facebook: facebook.com/med13lfoundation Instagram: instagram.com/med...

    39 min

  8. Jan 2

    Intro to Growing Up With MED13L

    Welcome to The Voices of MED13L, the official podcast of the MED13L Foundation. In this special trailer, host Vanessa Dias introduces Growing Up with MED13L — a new ongoing series that explores what life looks like for individuals with MED13L at every age and stage. Each episode features a family from our global community, sharing their lived experiences — from early diagnosis to daily routines, school transitions, therapy progress, and life as a teen or young adult. The series isn’t chronological, because our journeys are not the same. Whether you’re hearing from a family whose child is close in age to yours or several years ahead, these conversations offer connection, perspective, and hope. Together, we’ll highlight the incredible resilience, progress, and love that define growing up with MED13L — and remind every listener that they are not alone. 🎧 This is Growing Up with MED13L: Life at Every Age. Support the show Resources MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/ Profile Frame for Socials: https://twb.nz/med13lfoundation Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/ Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l Community Checklist: Google Drive Link CRID: thecrid.org Citizen Health: citizen.health/partners/med13l-foundation Simons Searchlight: https://research.simonssearchlight.org/account/create Rare-X: rare-x.org/med13l Website: med13l.org Facebook: facebook.com/med13lfoundation Instagram: instagram.com/med...

    2 min
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Trailers

Ratings & Reviews

5
out of 5
3 Ratings

About

"The Voices of MED13L" is a podcast dedicated to raising awareness, sharing stories, and building community around MED13L syndrome—a rare genetic disorder that affects development and communication. Each episode highlights the voices of families, experts, and advocates working to understand and navigate life with MED13L. From personal journeys and medical insights to educational tools and research updates, the podcast offers hope, support, and connection for anyone impacted by this rare condition. Whether you're a parent, professional, or simply curious, "The Voices of MED13L" is a space to listen, learn, and stand together in the face of the unknown. Visit us at www.med13l.org  Follow us on Instagram & Facebook: @med13lfoundation X: @med13l_fdn

Information

  • Creator
    The MED13L Foundation
  • Years Active
    2025 - 2026
  • Episodes
    13
  • Rating
    Clean
  • Copyright
    © 2026 The Voices of MED13L
  • Show Website
    The Voices of MED13L

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