Hello Reader,
As we step into June, our mantra of “Make Every Story Count” continues to guide us. Every data point shared, every story told, and every connection made brings us one step closer to answers for MED13L Syndrome.
This month, we shine a light not only on our brave MED13L community, but also on the siblings and peers who walk this journey alongside them. Their love, patience, and resilience remind us that every member of our community plays a meaningful role in our collective story.
We’re also excited to see new research opportunities on the horizon, driven by your participation in platforms like Citizen Health, RARE-X, Simons Searchlight, and our biorepository with COMBINEDBrain. Your involvement is opening doors and accelerating discovery.
At the Foundation, we’re working tirelessly every day leading up to the Conference to give you the best experience possible. Every t-shirt, schedule, research opportunity, and speech is prepared with love and purpose. At the end of the day, we’re just parents giving our all—for our kids and yours. But we can’t do this alone. Our greatest hope is that this Conference sparks deeper engagement, new committees, and more voices at the table—because real progress takes all of us.
To those who cannot be there, you are with us, and I cannot wait to present the research videos to show you all the amazing things we have been doing for our community.
Thank you for all that you do. Let’s keep sharing our stories—turning stories into science, and science into treatments.
In strength and solidarity,
P.S. 💙 Happy Father’s Day to all the amazing MED13L dads—we see you, and we’re grateful for you.
Still need a last-minute Father’s Day gift?
Celebrate the incredible MED13L dads, grandpas, uncles, brothers, and father figures in your life—and honor a dad who’s making a real difference in the lab.
This year, we’re spotlighting Dr. Chad Grueter—a devoted MED13L researcher developing MED13L animal models and advising our scientific community. His work is helping us move closer to answers, and he’s doing it with the heart of a father.
🔥 Dress your MED13L hero in the official “Grueter” shirt—because science, love, and dad jokes all matter.
Exciting news! The MED13L Foundation has partnered with Citizen Health to help patients and families use their health data to improve care and drive groundbreaking treatments.
Save time, stay organized, and support MED13L research: all in one place.
Unlike other platforms, Citizen Health pulls all your medical records into one place, making future appointments and paperwork much quicker.
Your Data. Your Control.
✔️ Fully de-identified
✔️ You choose what to share
✔️ Helps researchers improve care for MED13L Syndrome
🎁 Enroll and get entered to win a $100 Amazon Gift Card! (5 families will win)
Have You Registered Yet? Final Call—Hotel Block Expires Monday!
Join us for the 2025 MED13L Research & Family Meetup in Boston (Waltham, MA), July 9–13!
🎟️ Admission is FREE for children ages 10 and under!
This is more than a gathering—it’s a chance to stand with the MED13L community, share your story with researchers, and take part in groundbreaking studies that are shaping the future of MED13L care.
💥 Don’t Miss These Research Opportunities!
Throughout the week, families can participate in exciting onsite research studies including:
🧠 Natural History Study - (MIND Study with Boston Children’s Hospital)
🩸 Biomarker Study (COMBINEDBrain – blood draw/samples)
🗣️ Speech & Language Study (Geisinger) – See preprint publication by the lead investigators.
📊 EEG Monitoring Study (Dr. Caitlin Hudac) Dr. Hudac's November presentation starts at 30 minute mark.
📅 Event Highlights:
🔹 July 9–13 – Participate in research (see below) & connect with families
🔹 July 10 – Welcome Reception & Family Kickoff
🔹 July 11 – Research Presentations from MED13L Scientists
🔹 July 12 – Family Day with accessible science talks, caregiver & sibling sessions, and live Q&A with a pharmacist
💙 Your presence matters. Let’s learn, connect, and accelerate progress—together.
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Research Updates
Biorepository
Coming soon to a town near you!
This year, the COMBINEDBrain 2025 Roadshow is collecting blood samples at 9 rare disease conferences across the country, and your child’s sample matters. ❤️
📍 Biorepository Locations:
🔹 St. Louis, MO – June 19-20, Hyatt Regency St. Louis At The Arch
🔹 Phoenix, AZ – June 27-28, Arizona Grand Resort & Spa
🔹 Boston, MA – July 11-12, Embassy Suites by Hilton Boston Waltham
🔹 Denver, CO – July 18-19, Embassy Suites by Hilton Denver Central Park
🔹 Westminster, CO – July 19-20, The Westin
🔹 Windsor Locks, CT – July 19-20, Sheraton Hartford Hotel at Bradley Airport
🔹 Cambridge, MA – Aug. 9-10, Royal Sonesta Boston Hotel
🔹 Philadelphia, PA – Sept. 26-27, DoubleTree by Hilton Hotel Philadelphia Airport
🔹 Atlanta, GA – Dec. 4-5, TBD location. Check our Instagram for updates!
Submit your child’s blood sample to the MED13L biorepository and donate at any of these rare disease conferences on the 2025 Roadshow!
Questions? Email info@med13l.org
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Make Your MED13L Story Count!
Turning stories into science, and science into treatments.
By joining our MED13L Natural History Study (the MIND Study), you'll help:
- Accelerate research toward life-changing treatments
- Unlock critical insights into MED13L progression
- Equip doctors with knowledge for better, more personalized care
- Answer key questions—like "What does my child's future hold?" and "How can I best support them?"
How it works:
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Advocacy in Action
MED13L Named a Rising Rare Disease Movement
We were honored to be asked to participate in a recent article by Brain & Life magazine, which shines a spotlight on advocates making a difference for people with neurologic conditions. The MED13L Foundation was included because the work of our community is catching attention—and for good reason.
The article highlights how family-led advocacy is driving research and awareness for rare neurodevelopmental disorders. MED13L is described as “one of the newest rare disease movements gaining momentum,” powered by parents determined to find answers. The momentum is real—and growing.
At the Foundation, we see this progress every day through efforts like our Natural History Study at Boston Children’s Hospital, the MIND Study. Every story shared, every dollar raised, and every partnership formed is pushing the science forward and building hope.
📩 Want to join this movement? Email info@med13l.org to get involved.
Employee Matching Programs
Your donation can have twice the impact.
Did you know that many large employers offer corporate matching donations, doubling or even tripling the impact of your charitable gifts? If you work at companies like JP Morgan Chase, Abbott, Motorola, Walmart or Morgan Stanley, you could be unlocking extra funds for rare disease research just by donating.
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Ask your HR department today about supporting the MED13L Foundation!
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Please consider sharing a quote from your Sibs & Stripes siblings, or a note about them, along with one or two photos to admin@med13l.org.
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Sibs and Stripes
Thanks to all the families who contributed to our Impact Stories series! Your photos and reflections have brought the MED13L community to life in powerful ways. We're excited to announce our newest feature: Sibs & Stripes, spotlighting the incredible siblings of children with MED13L. These unsung heroes show empathy, adaptability, and compassion beyond their years.
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Internships
Do you have a high school or college student looking for meaningful internship experience? Have them send us a cover letter at info@med13l.org to help make a real impact in the rare disease community!
Social Media & Community Engagement Intern
Are you passionate about storytelling and digital connection? Help amplify the voices of MED13L families through social media! Interns will assist with posting, responding to comments, engaging in Facebook and Instagram groups, and supporting features like Reels, “Day in the Life” stories, and interviews. This is an unpaid, resume-building opportunity ideal for students interested in communications, advocacy, or digital marketing.
Campaigns & Content Intern
Join our team to help brainstorm and build creative campaigns that raise awareness and support for the MED13L community. Tasks include helping with campaign planning, collecting family stories, writing short features or quotes, and contributing to monthly themes. Perfect for students interested in writing, nonprofit work, or healthcare advocacy. This internship is unpaid and designed to help build your resume and portfolio.
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🌟 Star of the Story: Help Us Celebrate Our Amazing Kids!
We’re excited to launch our Star of the Story initiative—designed to help children with MED13L share their stories in a way everyone can understand, enjoy, and feel connected.
This fun template gives families a chance to highlight what makes their child unique, the people who support them, and what they’d like others to know. It’s also a way to build connection—letting our kids “meet” their MED13L family, even from afar.
📖 Once we receive your completed page, we’ll create a digital book you can share with your child and others in the community.
✨ Want to customize the template in Canva? Email us at info@med13l.org, and we’ll send you an editable link!
💙 Let’s make every story count—because our children are the stars.
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