The Voices of MED13L

An Honest Look at MED13L, Our Community, and the Foundation Behind ItMED13L Awareness Month Special | May 2026This 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 [email protected]🔬 Research opportunities: med13l.org/research-hub/join-med13l-research-opportunities 📄 Latest publications: med13l.org/research-hub/publications 📧 Reach the team: [email protected] 🚴 Join the Million Dollar Bike Ride team: June 13th, Philadelphia Support the showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

Growing Up with MED13L: Life at 14In 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 showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

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 showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

Why the MIND Study Matters: Building Clinical Trial Readiness for MED13LIn 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 readiSupport the showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

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, connectionSupport the showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

Growing Up With MED13L: Life at Age 12In 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 showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

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 showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

Mini Episode: 13 Minutes with MED13LHost: Katie Boychuck, Chair of the MED13L FoundationIn this first-ever 13 Minutes with MED13L mini-episode, Foundation Chair Katie Boychuck walks families step-by-step through Citizen Health—a secure, easy-to-use platform the Foundation is recommending to help parents centralize their child’s medical information.Katie shares openly as both a leader and a MED13L parent, explaining why organizing records in one place can make care coordination, appointments, and day-to-day decision-making far more manageable. She also highlights the importance of the MED13L Census, touches on Rare-X enrollment progress, and shows exactly how simple it is to create a Citizen Health account using your child’s CRID.If you’ve been meaning to sign up but haven’t found the time, this episode offers a clear, supportive walkthrough you can follow in real life—right from your phone, your car, or wherever you are in the middle of your busy day.Together, we are not so rare.Support the showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

Episode 2: Introducing Phil Buta & Why Surveys MatterIn this episode, we welcome Phil Buta, the newest leadership voice at The MED13L Foundation. With nearly 20 years in nonprofit work, Phil shares what inspired him to join our community and how he hopes to support fundraising, research, and long-term strategy.We also break down one of the most important topics for every MED13L family: why surveys and data collection are essential for advancing research. Katie, Inon, and Vanessa explain how caregiver surveys, medical record uploads, and CRI numbers directly shape what scientists can study and how clinicians understand our children.Topics include: • Phil’s background and what brought him to the Foundation • The role of Citizen, RareX, and the CRI in research • How caregiver-reported data becomes the backbone of scientific progress • New Citizen incentives and the AI Advocates tool • Why the ORTA Toileting Study may become a key biomarker • How publications influence clinical care—and why our community’s data is neededThis episode offers a clear, practical guide to the steps that help move MED13L research forward. Every family’s participation matters, and every story strengthens the path toward future treatments.Questions or need guidance? 📧 [email protected] the showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

Episode Highlights1️⃣ Seek Support from Specialists – Learn which specialists to see: cardiologist, neurologist, developmental pediatrician, orthopedist, speech, occupational & physical therapists, and feeding specialists. – Contact your local school district early for early intervention services. – Visit our Glossary for common medical and therapy terms: med13l.org/resources – Ensure all providers use the MED13L ICD-10 Code (Q87.85) to correctly document and track care.2️⃣ Be Counted in the 2025 MED13L Census Visit med13l.org and click Register to be counted. Every registration helps researchers and clinicians see the true scope of MED13L and adds your family to the global map.3️⃣ Stay Informed — Sign Up for the Newsletter Join the mailing list for updates, research news, and family stories. Catch up on past issues in our Newsletter Archive.4️⃣ Learn the Basics — Start with the FAQ Page Get trusted answers to the most common questions: New to MED13L? Visit our FAQ.5️⃣ Join the MED13L Registries — Turn Stories Into Science – Apply for your Clinical Research ID (CRID): thecrid.org – Enroll with RARE-X (caregiver surveys): rare-x.org/med13l – Upload records securely via Citizen: citizen.health/partners/med13l-foundation6️⃣ Connect With the Community Join our social spaces for connection and support: – Register with the Foundation – Facebook Family Group – Instagram @med13lfoundation – Slack Group Signup🌐 Visit: www.MED13L.org 📬 Contact: [email protected] 💙 Together, we’re turning stories into science — and science into treatments.Support the showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

Episode 1: Welcome & Where We’re HeadedHosted by Vanessa Dias & Katie BoychuckIn this trailer episode, we introduce the hosts and The MED13L Foundation—how it started, what drives us, and why this podcast exists.Whether you're navigating a new diagnosis, supporting a loved one, or working in research or medicine, this episode offers a personal and accessible introduction to MED13L Syndrome and the global community coming together around it.We share the story of how the Foundation began, our mission and values, and what success looks like as we push toward earlier diagnoses, stronger family support, and meaningful progress in research.What you’ll hear in this episode:– Meet your hosts– How the MED13L Foundation came to be– Our mission, values, and goals– How we’re building connection, support, and hope– What to expect from future episodesResourcesRegister with the Foundation’s Census: HEREAccess the Community Checklist: HERECitizen Health: https://www.citizen.health/partners/med13l-foundationRare-X: https://rare-x.org/med13l/Website: www.med13l.orgFacebook:  https://www.facebook.com/med13lfoundation/Instagram:  https://www.instagram.com/med13lfoundation/#Next up:Updates and the Foundation’s most pressing needs.Submit topics you'd like to hear covered HEREMusic Credit: Intro and outro music for the Voices of MED13L Foundation podcast was composed and performed by Sophie Seaver, sibling of an individual with MED13L syndrome. We thank Sophie for sharing her talent with our community.Support the showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...

Officially Launching in October 2025!Welcome to The Voices of MED13LThe Voices of MED13L Podcast is brought to you by The MED13L Foundation and co-hosted by Katie Boychuck, Chair, and Vanessa Dias, Vice Chair. Both are parents of children with MED13L, and their personal journeys have set them on a path to push for research, create change for a better future, foster connection within the community, and continue the search for treatments and ultimately a cure.In this podcast, you’ll hear:Updates on the latest research and therapeutic discoveryStories from families living with MED13L around the worldInsights from clinicians and researchers working to unlock new possibilitiesTogether, Katie and Vanessa bring the voices of science, family, and community into one space — helping fuel hope for tomorrow while strengthening the bonds of today.✨ Subscribe today and join us for The Voices of MED13L — where connection, discovery, and hope meet.This trailer episode is hosted by Rowan Dias, a student at Deerfield Academy in the Class of 2027 and sibling of a child with MED13L Syndrome, who, with the help of a generous grant from Deerfield Academy's Center for Service and Global Citizenship, helped set up the podcast during a summer internship to expand the Foundation’s reach to families, researchers, and supporters.Visit our website at www.med13l.org & follow us on social media @med13lfoundationSupport the showResourcesMED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/Profile Frame for Socials: https://twb.nz/med13lfoundationBe Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13lCommunity Checklist: Google Drive LinkCRID: thecrid.orgCitizen Health: citizen.health/partners/med13l-foundationSimons Searchlight: https://research.simonssearchlight.org/account/createRare-X: rare-x.org/med13lWebsite: med13l.orgFacebook: facebook.com/med13lfoundationInstagram: instagram.com/med...