Families Supporting the MED13L Syndrome Cause
We strive to spread awareness, provide family support, and advance medical research in search of a cure for MED13L syndrome.
What is MED13L?
MED13L Syndrome: A Rare Genetic Neurodevelopmental Disorder
MED13L Syndrome was first described as a neurodevelopmental disorder in 2013. It was further expanded by both Adegbola and Asadollahi as a Syndrome with global developmental delay, intellectual disability (ID) with speech and movement delay, hypotonia (low tone), and recognizable facial features. Currently, there are about 100 cases reported in medical literature.
Donate & Support
Your support will have a direct impact on the MED13L community, and your donation will go directly to our community engagement and research initiatives.
Welcome
Welcome, we’re glad you found us.
Our foundation is a collective group of individuals, parents, researchers, and medical professionals banded together to advance research and understanding of MED13L Syndrome.
Our MED13L community is popping up all over the globe! Help support each other no matter the distance between us.
Symptom Checker
The MED13L Foundation and Probably Genetic have partnered to enhance genetic testing access and advance research in our community.
New Diagnosis
Visit our new diagnosis help page now and find tailored resources, guidance, and community connections to navigate this path together.
Tell Your Story
Diagnosed with MED13L or serving as a caregiver? Register on our website to create a profile on our community map and tell your story.
Share your story & empower our community.
Share your story in the Rare-X natural history database. Together, let’s illuminate the path to understanding and advancing research for MED13L Related Neurodevelopmental Disabilities. Our goal is 100% community participation for a brighter future for our children.
Stay Current
Recent News
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Naproxen Shown to Upregulate MED13L.
By Vanessa Dias -
Our Strength Is In Our Numbers
By Inon Shampanier -
Making Rare Mean Recognized, Not Forgotten
By Katie Boychuck -
Join us! World MED13L Syndrome Day 2023
By Nick Seaver
Get Updates
Subscribe for News
Watchlist
Events & Research Opportunities
Learn about opportunities to host a fundraiser or event.
In order to support the MED13L Foundation cause it is critical that we get more people involved in hosting and sponsoring events to raise money and awareness.
Information & Help
Resources & Tools
Research Opportunities
Learn about research opportunities that the MED13L community offers. Whether you’re a patient, caregiver, or medical professional, there’s a chance for you to contribute to groundbreaking studies.
Education & Resources
By providing the most current information, comprehensive research findings, and expert insights, we empower the MED13L community to make well-informed decisions and more effectively navigate their complex journey.
Newly Diagnosed Help
If you are diagnosed with MED13L or a MED13L caregiver, put yourself on the map, and connect with other community members around the world.
Join our Patient Registry
Join our patient registry at RARE-X; Be sure to upload your genetic report to enlist your child in our de-identified database.
Follow our socials
#MED13Lfoundation
From Our President
Dear MED13L Community,
Welcome to a community built on hope, resilience, and the shared belief that together, we can create a brighter future for our loved ones. My name is Katie Barry Boychuck, and I’m here to join you on this journey. When my son, Collin, was diagnosed with MED13L Syndrome, our world changed forever. Like so many of you, we faced more questions than answers, but I knew standing still wasn’t an option.
Driven by my love for Collin and inspired by the incredible families in the rare disease community, I’ve become a relentless advocate for research, treatments, and support. Through The MED13L Foundation, we’re building a future where our children are seen, heard, and given every opportunity to thrive.
I invite you to watch the video below, which shares my why—the love for my son and our community—and my how—the commitment to pushing for progress so no family has to navigate this journey alone. Together, we are stronger. Together, we can make a difference.
With hope and determination,
Katie Barry Boychuck
The MED13L Foundation
