The Voices of 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

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

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

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

Mini Episode: 13 Minutes with MED13L

Host: Katie Boychuck, Chair of the MED13L Foundation

In 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 show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

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

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

Episode 2: Introducing Phil Buta & Why Surveys Matter

In 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 needed

This 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]

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

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

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

Episode Highlights

1️⃣ 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-foundation

6️⃣ 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 show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

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

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

Episode 1: Welcome & Where We’re Headed

Hosted by Vanessa Dias & Katie Boychuck

In 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 episodes

Resources

Register with the Foundation’s Census: HERE
Access the Community Checklist: HERE
Citizen Health: https://www.citizen.health/partners/med13l-foundation
Rare-X: https://rare-x.org/med13l/
Website: www.med13l.org
Facebook:  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 HERE

Music 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 show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

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

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

Officially Launching in October 2025!

Welcome to The Voices of MED13L

The 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 discovery
• Stories from families living with MED13L around the world
• Insights from clinicians and researchers working to unlock new possibilities

Together, 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 @med13lfoundation

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

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

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...