I recently had the chance to take my son, Collin, to his natural history study visit, and I came home with my heart full.
As parents of children with a rare disease, we often find ourselves educating providers or leaving appointments feeling unheard. This experience was the complete opposite. Every provider genuinely cared about MED13L Syndrome, listened to us, and wanted to learn from Collin.
What stayed with me most was how thoughtfully the study was designed to show what Collin could do, rather than focus on what he could not express verbally. When a child struggles with expressive language, traditional assessments don't always capture the depth of their understanding. Watching Collin's receptive language shine through was both beautiful and emotional.
Although the in-person portion of this study is no longer enrolling, every family can still help move MED13L research forward. Complete the 2026 Census, enroll in Citizen to and make sure your RARE-X surveys are up to date.
We hope to fund another natural history study, but opportunities like these require significant Foundation funding. Fundraising is research participation, too. The funds our community raises make these studies and other research opportunities possible.
And this month, we can show you what happens when families participate. You'll see five years of growth in our Simons Searchlight registry and results from our recent family survey on NSAIDs; both examples of how family participation creates the data, questions, and insights that move MED13L research forward.
You'll also find new ways to connect with our research team and MED13L families in the months ahead. Thank you for being part of this work and this community.
With gratitude,
Research & Discovery
Family-Reported NSAID Survey: An Early Signal for Research
In June 2026, the MED13L Foundation surveyed families about their children’s use of NSAIDs, including ibuprofen, following repeated reports of changes that appeared to extend beyond expected effects on fever or pain. While this small, family-reported survey cannot establish efficacy or causality, the responses provide an important signal that warrants systematic investigation.
17 families responded, including 16 whose children had received an NSAID. The children ranged from 2–19 years of age (12 male, 5 female).
Among the 16 children who received an NSAID:
7 families (44%) reported changes beyond fever or pain relief; 7 reported no additional changes and 2 were unsure.
Reported changes most commonly included better sleep (5), fewer challenging behaviors (3), improved mood (3), and increased cognition (2). Improvements in speech, attention, and motor skills were each reported once.
Notably, among families who subsequently stopped the NSAID, 4 reported that the observed improvements faded. This apparent on–off pattern is particularly intriguing and provides a hypothesis that can be tested prospectively.
12 of 16 children (75%) had no reported side effects. Four families reported stomach discomfort, increased irritability, or changes in sleep; three discontinued the medication.
These observations are not evidence that NSAIDs are an effective treatment for MED13L Syndrome. However, the consistency of certain family-reported changes and particularly reports of improvement followed by loss of benefit after discontinuation—raises an important research question. Understanding whether these observations reflect a true biological effect, differences in individual responses, or other factors could reveal new insights into MED13L biology and potentially identify therapeutic mechanisms worth pursuing.
The Foundation views these family observations as an opportunity to move from anecdotal reports toward rigorous, controlled research that can determine whether there is a reproducible biological and clinical signal.
This was a parent-reported survey, not a clinical study. It reflects observations made at home rather than measured clinical outcomes, and it is not medical advice. Any decision about NSAIDs should be made with your child's physician. The Foundation is sharing this data to help shape the research questions we bring to our scientific partners, and we thank every family who participated.
MED13L Registry: Five Years of Growth and Discovery
The MED13L Foundation has completed a five-year analysis of MED13L registry data from Simons Searchlight, led by Ricardo Ramirez, the Foundation’s Chief Scientific Officer. Drawing on 17 quarterly reports from 2021–2026, this analysis provides our clearest view yet of how the MED13L community has grown and what we are learning about the shared clinical features of MED13L Syndrome.
What we've learned
Our community is growing. The number of participants with available medical-history data increased from 18 to 84—a 4.7-fold increase over 5.1 years. Total registry enrollment has now reached 191 individuals.
The core features of MED13L Syndrome remain consistent. Among participants with available data, 96% had intellectual disability or developmental delay, 77% had low muscle tone, and 44% reported constipation, representing some of the most common developmental, neurological, and gastrointestinal features.
The registry is becoming more valuable over time. As more participants reach adolescence and adulthood, we are gaining the ability to study how MED13L Syndrome changes across the lifespan and better understand the needs of older individuals.
There is an important opportunity to deepen the data. Enrollment has grown faster than completion of detailed surveys and blood-sample collection. Closing this gap will be critical to understanding the full spectrum of MED13L Syndrome and identifying meaningful biomarkers and therapeutic targets.
Why this matters
A growing registry is more than a database, it is the foundation for the research and clinical studies that will shape the future of MED13L Syndrome. The more complete our collective clinical information, surveys, and biosamples, the better researchers can identify patterns, understand disease progression, develop biomarkers, and design future clinical trials.
If your family is already enrolled in Simons Searchlight, one of the most valuable ways you can advance MED13L research is by completing your medical-history surveys and providing a blood sample when possible. Every family's participation adds another piece to the scientific picture and brings us closer to better treatments.
Data source: Simons Searchlight MED13L Registry Updates, 17 quarterly reports, 2021 through 2026.
Take Part in Research
A MED13L Milestone: The First Mini Meeting of the MEDs
This December, MED13L, MED13, and MED12 families will come together in person for the first time ever at the (Mini) Meeting of the MEDs at the Grand Hyatt Denver in Denver, Colorado.
This is much more than a community gathering. It is a meaningful step in building the MED Alliance, and in exploring how our biologically connected rare disease communities can create research opportunities that may not be possible for any one rare condition acting alone.
Families will hear from researchers and advocacy leaders across the MED community, exploring why MED13L, MED13, and MED12 are biological “cousins," what our shared and distinct biology means for research, and how working together can accelerate progress that no single community could achieve alone. We will look at what we have learned since our 2025 Conference, what questions remain, and how we can best support our loved ones across all three conditions.
The program will also include family-focused resources, discussion tables, time for questions, lunch, and opportunities to connect directly with researchers, advocacy leaders, and other families.
Families will also have access to participate in research via onsite biospecimen collection through the COMBINEDBrain Roadshow.
Following the meeting, families are invited to join an informal off-site gathering from 4:00 to 6:00 p.m. Location details to follow.
The Mini Meeting is being held alongside the Cure SYNGAP1 and SLC6A1 Connect International Scientific Symposium and Family Conference, bringing multiple rare disease communities together at the Grand Hyatt Denver. Families arriving early are also welcome to join the Rare Reception on Thursday evening, December 3. Additional details to follow.
Discounted rooms at the Grand Hyatt Denver are available through November 10, 2026. Reserve your hotel room.Please note that the booking link defaults to a seven-night stay; you can adjust your dates during the booking process.
Registration details and pricing will be shared soon. In the meantime, securing your hotel room is the most time-sensitive step.
Can't make it to Denver? Our 2027 Summer Family and Research Conference is on the horizon.
5th Annual Golfing for a Cure - Sunday, September 13th
Join us for a day of fun, community, and purpose at our 5th Annual Golfing for a Cure, benefiting The MED13L Foundation. Whether you are hitting the course or coming just for the fun afterward, we would love to have you there.
When:
Sunday, September 13, 2026
8:00 AM Shotgun Start
What to expect:
•18 holes of golf
•Dinner-only option available
•Raffle baskets
•50/50 raffle
•Great food, drinks, and an even better cause
Over the past four years, this incredible community has helped us raise more than $100,000 to support research and advocacy for individuals and families affected by MED13L, and we are just getting started. 100% of proceeds go directly to The MED13L Foundation.
Grab your friends and let's make a big impact! Every bit of support makes a difference.
Save the Date: EDA Cares Golf Outing to Benefit MED13L
The MED13L Foundation is honored to be the 2026 recipient of the EDA Cares Golf Outing, taking place Saturday, September 26at Five Ponds Golf Club in Warminster, Pennsylvania. The day brings together golf, giving, and good company, with a scramble format played in teams of four and a 1:00 p.m. shotgun start. The course welcomes players of every skill level, and prizes go to the top three teams.
Proceeds support the Foundation's mission to advance research, expand family resources, and move the MED13L community closer to treatment. Founder Kelly Sexton will be on site to represent the Foundation and greet everyone who comes out to play.
If you are in the greater Philadelphia area, we would love to see you on the course!
This October, we're inviting the entire MED13L community to move together for research.
Strides in Stripes is the MED13L Foundation's first annual movement challenge. Set a personal goal and log your miles however you move - walking, rolling, running, swimming, dancing, or even during therapy sessions. Every mile counts.
Our children move in different ways, and some of the hardest-won miles in our community happen in therapy rooms, on adaptive bikes, or one determined step at a time. Adaptive participation isn't a footnote in this challenge - it's the heart of it.
Participants can join individually or create a team in honor of someone with MED13L Syndrome, set a movement and fundraising goal, and invite friends and family to support them. Every dollar raised will support MED13L research.
Registration opens September 21. The challenge runs October 1-31.
Get your stripes ready. More details coming soon!
What Families Should Know
Do You Know the MED13L Syndrome ICD-10 Code?
A recent study found that fewer than two-thirds of patients with a confirmed genetic diagnosis ever had their syndrome-specific code added to their medical record. Even when the code was available, providers often used generic epilepsy or developmental codes instead.
This matters more than it might seem. The MED13L code is how our community becomes visible in healthcare systems, insurance claims, and research databases. It is how patients get counted for clinical trials, precision therapies, and better services.
At your next appointment, ask your child's provider to add the correct MED13L ICD-10 code to the chart. Consistent use of this code ensures our families are seen, our data is accurate, and our path toward treatments and cures keeps moving forward.
Virtual Office Hours with Our Chief Scientific Officer
The Foundation is opening a door to direct conversation between families and our research leadership. Ricardo Ramirez, the Foundation's Chief Scientific Officer, will begin hosting regular virtual office hours for our community.
These are informal sessions with no set agenda. They are simply a chance to:
•Ask questions about MED13L research
•Learn more about ongoing and future studies
•Share your perspective and experiences
•Connect directly with someone helping to lead the Foundation's research
Our commitment is a simple one, which is to meet every family in our community. Book a time to speak with our CSO, Ricardo Ramirez, using the button below.
On August 11 and 13, Regional Ambassadors from around the world joined us for our first kickoff meetings to launch this new Foundation program. Together, we talked about our vision and how our Ambassadors can help strengthen connections among MED13L families across regions, countries, languages, and time zones.
Regional Ambassadors will serve as local points of connection, welcoming new families, sharing Foundation resources, helping families stay engaged, and making our global MED13L community feel a little smaller.
We are incredibly grateful to everyone who has stepped forward to help build this program and bring our community closer together.
Want to connect with your Regional Ambassador or interested in becoming one? Email Inon Shampanier at inon@med13l.org to get connected.
Braggin' Stripes
Braggin' Stripes: Celebrating Cora!
Braggin' Stripes is all about celebrating the accomplishments, milestones, and hard won moments that make our MED13L families proud. Big or small, every achievement deserves to be celebrated.
This month, we are celebrating Cora! They spent 10 weeks learning American Sign Language at Bucks County Community College in Newtown, Pennsylvania, and completed ASL Level 1 on July 6. What an incredible accomplishment!
As another school year begins, we know milestones can look different for every MED13L family. Braggin' Stripes is a place to celebrate every step forward and cheer each other on.
Have something to brag about? Share your brag here to be featured in an upcoming Braggin' Stripes!
Before You Go: Take Action
Progress in MED13L is built by all of us. Every survey completed, medical record connected, sample contributed, observation shared, and dollar raised helps build the knowledge and resources needed to move MED13L research forward.
This month, you can make a difference by keeping your research surveys up to date, connecting your medical records, participating in Foundation fundraising efforts, and staying engaged with our growing community.
Thank you for continuing to show up, share, participate, and help us build what comes next for MED13L.
We hope to see many of you in Denver this December!
Progress in MED13L is made possible by the partnership between our scientific community and our families. Every survey completed, sample contributed, code added to a medical chart, and observation shared from home adds another piece to what we know and moves the field forward. None of the progress reflected in this newsletter would be possible without your participation. Thank you for continuing to make this work possible.