Because #MED13L syndrome is rare, scientists are still learning about many genetic changes. As more families participate in research, some VUS results are reclassified over time. med13l.org

Have you noticed changes in your child while they were taking medications such as Advil/Motrin, Tylenol, Aleve, or similar medications? If your child has ever taken one of these medications, please take a few minutes to complete our survey. docs.google.com/forms/d/e/1F...

While Awareness Month may be over, the work continues. One of the most meaningful ways to support research and future discoveries is by completing our surveys and sharing your child's medical information through our databases. med13l.org/knowledge-ba...

Today, we honor every family navigating the #MED13L journey and reaffirm our commitment to advancing research, raising awareness, and creating hope for the future. Join us on May 21 at 12PM Eastern for a live Q&A session and build your own fundraiser at the link below! lnk.bio/med13lfounda...

📆 We want your input! Join us for our upcoming LIVE Q&A on May 21 at 12 PM EST — a conversation designed to bring #MED13L families, researchers, and leadership together. Complete the survey to get your questions in! docs.google.com/forms/d/e/1F...

The Million Dollar Bike Ride is a powerful movement bringing together hundreds of cyclists and advocates to fund critical research for rare diseases like #MED13L. Donate & Participate here: charity.pledgeit.org/MillionDolla...

The online world can feel overwhelming after a #MED13L or #raredisease diagnosis. Social media is fast-moving, overstimulating, and full of information (or misinformation) that’s overwhelming to sort through. The Dreamers Health app was built with that in mind. Check them out! dreamershealth.com

The COMBINEDBrain Biorepository Roadshow is coming to a city near you! Fully trained staff collect blood samples onsite, allowing MED13L families to participate in research without additional travel or clinical visits. Find your city: med13l.org/contribute-t...

Catch Sophie this week on Capitol Hill! As you may recall, Sophie Seaver has been named a 2025 Rare Artist Awardee by @everylifeorg.bsky.social, joining advocates and meeting with Members of Congress. Congrats, Sophie! Give her music a listen: www.youtube.com/watch?v=AHyd... #med13l #RareDC2026

We’re thrilled to work with Michael Dryzer through his internship with the Orphan Disease Center’s GCSX program! 👏 He’ll be analyzing and harmonizing natural history data across our key platforms. Now is the perfect time to update your #MED13L registries (lnk.bio/med13lfounda...)!

It takes less than 60 seconds to help move the #MED13L community forward. Toma menos de 60 segundos ayudar a impulsar a la comunidad MED13L hacia adelante. med13l.org/research-hub...

It’s Rare Disease Month and wearing #MED13L gear is an easy way to show support and raise awareness. Every purchase helps fund our work and amplify the voices of the MED13L community. Use code WearItShareIt for 15% off our Bonfire (merch) shop this February. Shop: www.bonfire.com/store/the-me...

The MED13L Foundation is proud to partner with Simons Searchlight in their Shine Your Searchlight 2026 campaign! 📝 Register for Simons Searchlight 🧬Upload your genetic testing report 🩺Share your medical history and experiences accounts.simonssearchlight.org

With more than 10,000 rare conditions, everyone likely knows someone impacted by a rare disease. As we approach Rare Disease Month, let's spread awareness, build community, and share our stories. #ShowYourStripes this February and on February 28 for #RareDiseaseDay as you get into the spirit!

Every completed Census helps create more moments like this, where families realize they are not alone. Please take a few minutes to complete the #MED13L Census and help us continue building connection and community. 👇 med13l.org/research-hub...

By completing the #MED13L Census, you help us understand where families are located, plan future meetups and CombinedBrain road trips, and strengthen research efforts. Complete the Census today! lnk.bio/med13lfounda...

We just added a new FAQ that breaks this down clearly and reassures families that • earlier doctors were not wrong • co diagnoses are common and valid • continuing evaluations can improve care 🔗 Read the full #MED13L Diagnosis FAQ here: med13l.org/what-is-med1...

You could be unlocking extra funds for rare disease research just by donating. Ask your HR department today and use the QR Code (or this link: med13l.org/donate/) to get started! #CorporateMatching #MED13L #RAREDISEASERESEARCH #careaboutrare #med13lsyndrome #RareDisease

We are excited and honored to share that Jake Wuest has joined the Board of Trustees! After his son's diagnosis with #MED13L, the Wuest family has supported the Foundation. As a seasoned banking executive, Jake brings significant nonprofit board experience along with strong financial expertise!

Join us for a relaxed lunch with fellow MED13L families, Foundation staff, and researchers. It’s a wonderful opportunity to connect, share experiences, ask questions, and hear the latest updates from the #MED13L Foundation. 📍 Hudson Grille–Midtown, 942 Peachtree Street, Atlanta, GA 30309

🗓️ Get ready to mingle with a select group of guests at the exclusive 2025 Rare Reception - it’s going to be a night to remember! Come join us, along with COMBINEDBrain, Citizen Health, and more for an evening of networking, delicious food, and exciting conversations. #MED13L #RareDisease

They can’t talk…yet. They can’t run or jump…yet. We don’t have a cure…yet. Time is on our side when we make every story count. Thank you to all families, caregivers, researchers, and doctors for contributing to every survey, donation, and research milestone.💙 #MED13L #MED13LSyndrome #RareDisease

Today, we honor the incredible strength of children living with a neurological condition: and the families and caregivers who support them. 💙

AI Advocate (beta) helps families caring for rare conditions organize information, ask better questions, and better understand care decisions. Sign up here: www.citizen.health/unlock! #MED13L

Mary Clare's life was further complicated by the absence of a genetic diagnosis. After her passing at 53, her sister, Anne, discovered #MED13L and recognized Mary in every symptom. Today, we honor Mary Clare by sharing her story and advocating for genetic testing. lnk.bio/med13lfounda...

This night of music + community will help support the Natural History Study at Boston Children’s Hospital — a huge step toward clinical trial readiness for #MED13L Syndrome. 💙 Tickets will be available soon! Every ticket leads to more hope, more research, and more progress.

Dr. Alicia Campbell shares what she’s seeing in the lab in her Drug Repurposing presentation (now live on YouTube from the 2025 MED13L Research & Family Conference). Metformin, type 2 diabetes drug, could show promise for #MED13L Syndrome and has introduced the discussion around drug repurposing.

There is a critical gap in research: rare disease families fight hard to win ICD-10 codes, but too often those codes aren’t actually used in patient records. Together, let’s make sure all the advocacy that brought us Q87.85 (#MED13L code) translates into real-world impact for our families. 💙

Your child's data! 📬 If you’re signed up with Simons Searchlight, you may have received a Research Match email to join the ORCA Study. This study could help determine whether it’s a meaningful way to measure communication ability in kids with rare neurodevelopmental disorders like #MED13L.

🚨​ Last Call for Nasal Swabs! 🚨​ We’re helping power the Unravel Biosciences x COMBINEDBrain drug repurposing study — and we need YOUR help! - Nasal swab from an individual with #MED13L - Nasal swab from a household sex-related individual (parent/sibling) 📩​ Interested? Email rheilmann@med13l.org