Growing Up With MED13L: Life at 18

Growing Up With MED13L: Life at 18

In this episode of Growing Up With MED13L, we go back to the very beginning with Belen Fernandez Crespo, mother to 18-year-old Nacho, joining us from Spain. Belen knew something was different when Nacho was still a baby, long before anyone would listen. He went undiagnosed for eleven years, and when the name MED13L finally arrived, it brought her something unexpected: relief. In this honest and moving conversation, she shares what those early years were really like, from a little boy who was "locked in his body" and could not point, nod, or shake his head, to the small, hard-won moments that changed everything. She talks about the therapies that helped and the ones that were nothing more than false hope, the optician who finally gave Nacho glasses and opened up the world to him, and the communication device he now uses to build sentences of his own. Nacho is loving and charming, quick to greet you with a hug and a kiss on the cheek. He adores his books, his toys, and climbing steep trails with the parents who go at his pace and never rush him. Belen is just as honest about the uncertainty of what comes next as Nacho ages out of school, and about the fear she carried on her own for far too long. Her advice to other families is simple and hard-earned: never give up, hold on to the small victories, and do not keep your pain to yourself. Wherever you are in your own MED13L story, we hope you feel a little less alone after spending this time with Belen and Nacho. Sign up for our newsletter, fill out the family census at med13l.org, and catch up on any surveys waiting for you. When you are rare, everyone counts, and every family's voice helps move research forward. 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/#]

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/#]