I want to take a moment to reflect on what this community has made possible.
We all remember the day we received the diagnosis and how it changed everything. Whether there was a sigh of relief or a hint of grief, it goes without saying that we are all changed by that moment. Families facing a MED13L diagnosis often experience uncertainty and long diagnosis periods. But connection changes everything and helps turn stories into science.
As we reflect on this MED13L Awareness Day, I want to share one story that captures exactly why The MED13L Foundation exists.
Meet Ivan, a physical therapist from the Philippines.
Ivan met Kaden (right, age 7) two years ago. At the time, Kaden required a stroller for mobility and needed moderate to maximal assistance to stand.
Early on, Ivan trained Kaden to initiate walking using a pediatric rolling walker with maximal assistance at the pelvis.
Over time, he progressed to inclined treadmill, walking with minimal assistance!
After 2 years of continued physical therapy, Kaden now spends time playing at the playground with his cousins and can perform stair climbing before going on the slides—showing meaningful gains in strength, coordination, and independence.
All MED13L stories look different, and we celebrate the milestones of this special one.
When asked what contributed most to this milestone, Ivan said,
Kaden's family's support.
Yes, the physical and occupational therapy sessions have helped tremendously, but Ivan emphasized how instrumental the support of Kaden's family was to his success.
Our global community of families, therapists, doctors, and researchers all have one thing in common: tenacity.
We MED13L warriors won't stop advocating until we find an answer. 💙
We need you this May. To share your story. To start a fundraiser. To donate.
Here are 5 easy ways to make the most of MED13L Awareness Month and make a huge impact on the direction of research!
We invite you to join us on May 21st at 12PM Eastern for a live Q&A session with our Chief Scientific Officer, Ricardo Ramirez.
This session is designed to make science more understandable, align research priorities with real family needs, and strengthen our community as partners in therapy development.
To support our international community, the presentation deck will also be translated. Spread the word and complete the survey here!
→ Laying the groundwork for clinical and natural history studies.
→ Accelerating early therapeutic development and early-stage research efforts.
→ Building a stronger research ecosystem made up of scientists, clinicians, and families.
None of this is possible without you. Your support is directly accelerating the path toward meaningful therapies for every individual and family impacted by MED13L syndrome.
Together, our collective efforts will create momentum and help steer research. Let’s use this month to show the strength, advocacy, and unity of the MED13L community.
