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October, 2026
Hello Reader,
A Note from Our Chief Scientific Officer
Dear MED13L Families,
October has kept our focus on two questions: how mitochondrial dysfunction may affect brain cells in MED13L, and how we can better support adults living with the syndrome. Both depend on families like yours.
This month I recorded a short video to walk you through where our research stands, including our progress with Simons Searchlight and why completing your surveys makes such a difference. You’ll also find videos below on our Strides for Stripes: Move for Mito campaign and Dr. Maya Chopra’s recent presentation. I hope you’ll take a few minutes with them.
I’m also glad to introduce Maria Remillard, a MED13L parent who is helping lead our psychology work for adults. Some of you may have already heard her on our latest Voices of MED13L episode, “Life at 34,” part of our Growing up with MED13L series. You can read more from Maria below, where she shares her story and a new survey for parents and caregivers of adults with MED13L. I hope you’ll take part.
Before you go, two dates to hold. We’ll gather in Denver on December 4 for a community meetup, and our Road Full of Promise fundraiser follows on January 30. More details on each are coming soon.
Thank you for being part of this community. None of it happens without you.
With gratitude,
Ricardo N. Ramirez, PhD
Chief Scientific Officer
MED13L Foundation
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Latest Registry Update: Enrolling is only the beginning
The registries are where MED13L research starts, and they only work when our families are in them. Simons Searchlight and Citizen Health together hold the most complete picture we have of this condition, and right now only a small fraction of our community is taking part.
Only 89 of us are enrolled in Simons Searchlight, and enrolling is just the first step. In Citizen Health, only 44 families have completed their surveys, and the surveys are where your family’s experience actually reaches researchers.
We need more. If you’re already enrolled, log in and finish your surveys. If you haven’t joined yet, now is the time. Every family’s information helps the Foundation see where our community really stands.
Reminder! Have you linked your CRID to your Simon's Searchlight account?
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Meet Maria! Mom to Katie, an adult living with MED13L Syndrome.
We’re glad to welcome Maria to the MED13L Foundation as a volunteer. She brings 35 years of leadership in wireless communications and seven years of nonprofit work through Marcel’s Way, and she joins us as a MED13L parent and mom to Katie.
Maria is helping lead our adult-focused psychology work, starting with a new survey for adults experiencing psychosis or regression. If this is part of your family’s experience, we hope you’ll take part. The survey asks about lived experiences, current care, medications, and access to specialists, and what we learn will shape an upcoming webinar with a medical and mental health expert on intervention and treatment options for our community.
Please add your voice by completing the survey!
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One Year In: Our Natural History Study with Dr. Maya Chopra
Dr. Maya Chopra joined The Medopathies Webinar to share where our Natural History Study stands after its first year. She leads the study at Boston Children’s Hospital as part of the ACTION Initiative (Accelerating Clinical Trial Readiness Innovations for Monogenic Neurodevelopmental Disorders).
Her talk is about what it takes to move from understanding a condition to treating it. She explains how variants differ from one person to the next, why a trial endpoint only counts once it has been validated, and why a measurement tool matters only when it captures change families can actually feel. Closing that gap between science and treatment is the hard part.
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In case you missed it: Join us this October as we Strides for Stripes to fundraise for a mitochondrial study!
We're off to a great start! The MED13L community is moving together this month, and we'd love for you to join us. However you move counts here. Walking, rolling, running, dancing, therapy steps, and stroller miles all move us forward.
We're raising $20,000 to fund the next step in MED13L research. Researchers have found evidence of mitochondrial dysfunction in MED13L patient-derived cells, and the goal now is to study patient-derived brain cells to understand what's happening and look for treatments.
Don't wait to get started! Register, start a page, and stride for someone you love. Every gift moves the science forward.
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Get your tickets! In person Research & Family Meetup
Denver, CO Hear the latest MED13L research, meet our Chief Scientific Officer Ricardo Ramirez, PhD, and connect with families who understand your day without explanation.
Registration is still open! Join us this December in Denver for a day of MED13L research updates and a community event at Lucky Strike!
📅 Friday, December 4, 2026
📍 Grand Hyatt Denver, Denver, Colorado
🚨 HOTEL BOOKING ALERT: The hotel block cutoff is Tuesday, November 10! Be sure to reserve your room before the deadline.
Register early to help us plan the day and shape the agenda around what families need.
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*For ACTION study participants we ask you to prioritize your visit to Boston for your in person evaluation with Dr. Chopra if your ability to travel is limited.
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🎸 Road Full of Promise Returns January 30th
Chicago, IL Save the date! Road Full of Promise returns on January 30, 2027, at Joe’s Live just outside Chicago for a night of live music, community and hope for MED13L families.
Last year, the event raised more than $250,000 for MED13L research, and this year will be even more meaningful as we prepare to welcome families and researchers to Chicago for our 2027 MED13L Research & Family Summit.
🎟️ Tickets and sponsorship opportunities coming soon!
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SAVE THE DATE FOR ONE OF MED13L'S BIGGEST NIGHTS!
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The MED13L Foundation goes to Notre Dame University's 2026 Brumm Patient Advocacy Summit
Katie Boychuck represented The MED13L Foundation at Notre Dame’s 2026 Brumm Patient Advocacy Summit, connecting with patient advocates, researchers, students, and future healthcare professionals across the rare disease community.
A highlight of the day was the opportunity to present the Foundation’s work on the MED13L Clinical Care Consideration Packet during the poster session. Katie spoke directly with medical students, researchers, and future physicians about the challenges MED13L families often face in the healthcare system—and how greater awareness, preparation, and partnership with families can lead to better care.
The summit also created valuable opportunities to strengthen relationships with leaders in rare disease research, including Dr. Allison Bradbury of the Center for Gene Therapy at Nationwide Children’s Hospital, whose work is focused on advancing gene therapy approaches for ultra-rare diseases.
Katie also had the opportunity to hear from keynote speaker Cara Coleman, author of The Bluebird Way, whose work emphasizes the importance of family-centered healthcare and meaningful partnerships between families and providers.
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Events like the Brumm Patient Advocacy Summit help us continue building the relationships, awareness, and collaborations needed to move MED13L forward—from improving clinical care today to advancing research and future treatments.
We are grateful to the Notre Dame Patient Advocacy Initiative for creating a space where families, researchers, advocates, and the next generation of healthcare leaders can learn from one another and work together.
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🎃 Happy Halloween from the MED13L Community!
Halloween can look a little different for every child, and for many MED13L families, that may mean adapting traditions, skipping certain activities, or celebrating in your own way. However your family marks the day, we hope it brings moments of joy, connection, and fun.
Tag The MED13L Foundation in your Halloween photos and costumes so we can celebrate together! 👻🧡
@MED13LFOUNDATION
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The Voices of MED13L Podcast
Growing up with MED13L is back. The series follows people with MED13L and those who love them, one age at a time, and this episode brings us to Life at 34.
Most of what gets shared about MED13L centers on early childhood. This one sits with adulthood instead, and what a full life looks like at this age, from the people who know it firsthand. It’s a warm, honest listen.
Take a listen, and tell us what it brings up for you.
Want to be a guest of the show? Email social@med13l.org
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DID YOU SEE? NEW ITEMS ADDED TO OUR BONFIRE SHOP: Help make MED13L known! Explore the latest additions to our official merch shop and turn everyday conversations into opportunities for awareness and advocacy. |
COMMUNITY PRIORITIES
THIS MONTH, WE NEED 5 MIN OF YOUR TIME
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