Description

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 

🚴 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...