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September, 2026
Hello Reader,
A NOTE FROM OUR CHIEF SCIENTIFIC OFFICER
Dear MED13L Families,
September brings a familiar milestone for many of our families: Back to school. For MED13L parents and caregivers, this time of year can bring excitement, new routines, and new opportunities, but also a lot of preparation, advocacy, and uncertainty. Every child learns and develops differently, and your families know better than anyone the importance of making sure our children are seen for what they can do, not simply what they cannot.
That spirit is at the heart of our Bragging Stripes campaign. We have loved seeing families share the strengths, personalities, accomplishments, and everyday victories that make our children who they are. These stories remind us why this work matters and why understanding MED13L must always begin with the experiences of our families. Now we are taking our Stripes one step further. As we celebrate the people, milestones, and stories behind MED13L through Bragginโ Stripes, we are also turning awareness into action. This October, Strides for Stripes invites our community to walk, roll, run, or move together in support of Move for Mito, helping fund the next phase of research into mitochondrial dysfunction in MED13L and the search for potential treatments. Share who you are striding for and help us turn stories into science and science into treatments.
This month, Katie, Vanessa, and I also had the opportunity to represent the MED13L Foundation at the 2026 RARE Drug Development Symposium, hosted by Global Genes in Boston. We joined rare disease foundations, researchers, clinicians, biotech leaders, and others focused on one shared challenge: how do we move from understanding a rare disease to developing treatments and ultimately bringing them to patients?
One of the important conversations was around the new partnership between RARE-X and Citizen Health, which can help bring together clinical information with the experiences families report over time.
This is where we need your help.
Our current numbers show approximately ~64 individuals enrolled in Citizen for MED13L, compared with approximately ~141 individuals enrolled in RARE-X. We would love to see these numbers become more closely aligned.
Why? Because both platforms can provide valuable information about our community, and having broader participation across both helps us build a more complete picture of MED13L. Keeping your surveys and information up to date can help us identify patterns, understand how MED13L affects individuals over time, and generate the data needed to design and prepare for future clinical studies and trials.
If you are already enrolled, please check that your information and surveys are up to date. If you are or unsure if you are enrolled in RARE-X, but not Citizen, please consider joining Citizen as well. Every additional family strengthens the dataset we can use to advance MED13L research.
And our work within the MED13L community continues to grow. On December 4th in Denver, Colorado, we will host our first Mini MED13L meeting, bringing together the MED13L Foundation, MED12 Foundation, and MED13 Foundation. This meeting will give us an opportunity to focus on MED13L research and therapeutic development, while also sharing insights and exploring areas where collaboration can help accelerate progress.
From family stories to clinical data to scientific collaboration, we are turning stories into science and science into treatments.
Every survey. Every sample. Every family story. Every person who participates. It all matters.
Because the path to treatments is built one family at a time. When our community shows up, shares, participates, and helps fund the science, we make every story count and move MED13L research forward together.
With gratitude,
Ricardo N. Ramirez, PhD
โChief Scientific Officer
MED13L Foundation
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From Research to Treatments: Rare Disease Drug Symposium Recap
Boston, MA Ricardo N. Ramirez, PhD, Vanessa Dias, and Katie Boychuck represented The MED13L Foundation at the RARE Drug Development Symposium this month, exploring how research can translate into treatments. Highlights included the start of a gene therapy trial for FOXG1-related disorder and discussions about how natural history studies and family participation help prepare for future clinical trials.
Want to know how you can participate in available research opportunities?
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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 now open! Join us this December in Denver for a day of MED13L research updates and community.
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Friday, December 4, 2026
๐ Grand Hyatt Denver, Denver, Colorado
๐จ 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.
๐๏ธ Use code EARLYBIRD for 20% off adult tickets through October 15.
*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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A nomination that belongs to our families:
The MED13L Foundation has been nominated for the 2026 Best Patient First Award in Honor of Michael J. Fox, part of the Prix Galien USA Awards, often called the "Nobel Prize of biomedical research." The award recognizes work that puts patients and families first, which makes this recognition yours as much as ours. Nominees will be celebrated during the Patient Summit in New York City this October, and we are proud to carry the MED13L community to the stage.
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What our ADULT families told us:
We asked what families of adults with MED13L need most, and 18 families answered. Most of their adult children still live at home, and three needs stood out: connecting with other adult families, finding clinicians who know MED13L, and stronger advocacy for adult services. Many families described a "cliff" when school ends and pediatric care runs out. The graphic shares what they told us, and how your Foundation plans to help.
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The IEP questions nobody hands you a list of:
We're teaming up with Citizen Health for a session with Staci Zimmerman, M.Ed. on Sunday, October 4th at 7PM ET / 4PM PT. She'll cover the questions families usually learn the hard way.
Staci has spent more than 20 years in special education as a teacher, consultant, and family advocate, and works as an IEP consultant with the Angelman Syndrome Foundation.
You'll also see how Ari, your teammate in rare disease care, can help with all things IEP and back to school, with live demos from the product team. Ari is free for our families, and premium is free through the end of the year for families who join the Beta.
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Stride with us this October: Strides for Stripes: Move for Mito
On October 15, the MED13L community is moving together, 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.
โWe'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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In the Know: MED13L Genetics and Family Planning
October 22nd, 6:30 ET - Join us for an educational webinar exploring MED13L genetics, inheritance, and reproductive options. Weโll review the current genetic testing landscape, with an emphasis on reproductive genetic testing options available to families. Weโll highlight established approaches and emerging technologies that can help families understand (and potentially impact) the chance of having another child with MED13L. The webinar will include additional resources and support for families navigating their family-building journey.
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Please consider completing this SHORT SURVEY to help us better understand your questions and informational needs around genetics and family planning. We welcome your input!
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Thank You, Ashley Mort, Christina Seim & their incredible community!
Congratulations to Abigailโs mom, Ashley Mort, and her aunt, Christina Seim, on the success of the 4th Annual Abigailโs MED13L Journey to a Cure! Their love and dedication brought the community together to raise awareness and $28,937 for MED13L research. Weโre grateful to them and everyone who participated, donated, and volunteered to help move us closer to meaningful treatments for Abigail and all those living with MED13L.
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Bragging Stripes: Love, Confidence, and Generosity from the Johnston & Carman Family
Congratulations to Katie and Chris on their wedding! Addie proudly spoke before 200 guests as her momโs maid of honor, while her sister Tenley kicked off our Voices of MED13L Sibling Takeover this month. The family also raised $5,350 for The MED13L Foundation through their wedding registry. Thank you for sharing your love, voices, and generosity with our community!
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The Voices of MED13L Podcast
The first Sibling Takeover. Host Christian Dias hands the mic to Tenley, age eleven, whose older sister Addie has MED13L syndrome. They talk about the games they play together, Addie's big personality, and what it means to grow up alongside a sibling who communicates differently. Tenley shares what Addie has taught her: to listen more closely and to feel more like herself. A podcast from the MED13L Foundation.
Want to be a guest of the show? Email social@med13l.org
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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. |
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COMMUNITY PRIORITIES
MED13L PATIENT REGISTRIES
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