Hello Reader,
This year’s theme, Make Every Story Count, drives us forward. From Rare Disease Day to now, your impact stories on social media and data contributions (via RARE-X and Simons Searchlight) are building community and unlocking the mysteries of MED13L.
We celebrate the growing global movement—leaders organizing in new countries to ensure no family stands alone. Whether you walk with us or alongside us, we are stronger together.
Today, we honor you, MED13L families, and all you do. And tomorrow, we keep moving mountains—for our kids and for every story yet to be told.
Together for our kids,
P.S. Don’t forget to spread love and awareness today by telling someone new about MED13L! The best way to celebrate is by ordering a limited-edition 'I Love Someone with MED13L' item, now available in three fresh designs.
Our Biggest Research Milestone Yet: The MIND Study Is Launching!
This is the moment we’ve been working toward. The MED13L Foundation has awarded its largest-ever research grant—$250,000—to launch the MIND Study (MED13L Syndrome Investigation of Natural History and Development) at Boston Children’s Hospital.
The MIND Study is a groundbreaking, three-year effort designed to document and understand the full clinical picture of MED13L Syndrome. By collecting medical, developmental, and behavioral data from participants, the study will lay the foundation for future clinical trials and the search for effective treatments. It represents the single most critical step to date in advancing clinical care and therapeutic discovery for our community.
The research team will begin enrolling participants in the coming weeks. To be added to the list of prospective participants, contact study manager Abigail Sveden at Abigail.sveden@childrens.harvard.edu. Please also mention if you plan to attend the 2025 MED13L Research & Family Meetup, as limited study slots will be available for onsite participation.
Read the full announcement here.
The Time Is Now: Help Fund the MIND Study and Change the Future
Finding 30 families to participate is the easy part. Funding the study is where we need you.
We must raise $250,000, with $100,000 needed in the first year to keep this landmark research moving forward.
This is our chance to make history together.
You, and dedicated supporters like you, are who make this type of groundbreaking study possible. Thank you for your past support and I hope you will consider continuing your support during MED13L Awareness Month.
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“As a mom to a child with MED13L, this study is more than research—it’s hope in action. I urge every family to participate—your story matters.”
— Ann Archibald, mom of Molly, MED13L trailblazer
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Research Updates
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New GeneReview
There is much to celebrate with the publication of this MED13L GeneReview by Dr. Alicia Campbell. Watch her presentation on the GeneReview and updates on Dr. Strich's mitochondrial project—a key initiative we’ve funded since 2023. Did you know PubMed’s GeneReviews reach over 10 million clinicians? Now that MED13L is on the clinical map, this resource will help clinicians, geneticists, and families worldwide better understand the syndrome.
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The pre-print of Marissa Mitchel, MS, CCC-SLP's (Geisinger Autism & Developmental Medicine Institute) study on MED13L-related apraxia (CAS) is now available!
The key takeaways: 1) combining action and speech helps rewire the brain’s communication pathways, 2) motor-based methods target the root challenges, and 3) implementing these techniques early leads to greater outcomes.
Watch Dr. Mitchel's 2023 presentation on these findings here.
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May is both Apraxia Awareness Month and MED13L Awareness Month — and this year, we’re spotlighting one of the most common and challenging symptoms for many of our families: Childhood Apraxia of Speech (CAS).Join us for a special MED13L Community Zoom where we’ll:
- Break down what Apraxia is and how it affects children with MED13L
- Discuss the importance of motor-based speech therapy for Apraxia
- Open the floor for family stories, discussion, and Q&
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A huge THANK YOU to everyone who participated in this Disease Concept Model research project—your children's stories are paving the way for a deeper understanding of MED13L.
Genetic Counseling Graduate Student, Kayla Clevenger, recently presented her thesis research, “Disease Concept Model for MED13L Syndrome,” at the Human Genetics Association of New Jersey May Conference. A special thanks to Rutgers University and CombinedBrain for making this opportunity possible!
Kayla will share these findings at our July Research & Family Meetup. Not registered yet? In celebration of MED13L Awareness Month, we’ve extended early-bird pricing through the end of May.
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"Speaking with caregivers of individuals with MED13L syndrome has been the most meaningful part of this research. I’m deeply honored to have heard their stories—stories that profoundly shape our understanding of this community and its needs. Thank you for trusting me to help amplify their voices through this work." Kayla Clevenger
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👉 In the New York City area? Head over to Chipotle today!
👉 In Chicagoland? Visit Portillo’s in Niles and join the fun.
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Did Today Come and Go Without Time to Set Up a Fundraiser? No Problem!
Life gets busy—don’t stress! Websites like GroupRaise make it easy. Just create an account, search by your city and state, choose your favorite participating restaurant, and select a date that works for you.
Questions or need a copy of the MED13L Foundation’s EIN? Email us at info@med13l.org.
A huge thank you to community members Vanessa Dias and Juan Tupacyapanqui for hosting a fundraiser at Chipotle today!
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MED13L Family Virtual Meeting
Missed the latest Zoom catchup meeting? Catch the replay here and hear Katie Boychuck present on all the latest research, publications and exciting future initiatives that lay ahead.
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Community Spotlight
A Heartfelt Thank You to Mary Seat of Wisdom School’s “Kids Who Care”!
We’re so grateful to the incredible students at Mary Seat of Wisdom School in Park Ridge, Illinois, and their service club, “Kids Who Care,” who dedicated their free lunch period to crafting beautiful, inspiring bracelets for our MED13L community! Each bracelet carries a message of hope and inclusion, like “Rare and Remarkable,” “The Power of Yet,” and “Inclusion is the Vibe.” (Don’t worry, parents and friends—there are equally stylish options like “Rare Advocate” too!)
A special shout-out to Gabriella Morris, who took beads home and worked late to ensure we had enough bracelets for all 150+ attendees at our upcoming Family & Research Conference. Your kindness and dedication shine bright!
Thank you also to Mrs. Zoromski and Principal Due for fostering such a supportive environment—and for making sure rare siblings at MSW know their school stands with them. Your love and advocacy mean the world to our MED13L families!
This past Mother’s Day, we reflected on how the day can feel different after a diagnosis. As one podcast recently shared, “Grief and sadness can coexist with so many other emotions, even happiness.” That sentiment resonates deeply with our community.
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To the moms who found joy on Sunday—we celebrate with you.
To the moms grappling with the loss of the motherhood they once envisioned—we see you.
And to every MED13L mom navigating this complex, beautiful, and challenging journey—your strength is why we proudly say: Strong as a MED13L Mother.
However the day found you, please know this: You are loved, valued, and never alone. The MED13L Foundation stands with you—today and always.
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