Some of us are saying goodbye to summer and hello to school and the challenges of new routines, while others may feel like summer slipped away as we sat in therapy rooms and carried on with year-round schedules. However this season looks for you, know that you’re not alone—you have a community that truly understands.
I’m so grateful for everyone who came together at our 2025 MED13L Research & Family Meetup in Boston, held alongside the CTNNB1 community. Together, we brought our mantra—“Make Every Story Count”—to life as families connected, stories were shared, and researchers gave us a glimpse of the exciting progress ahead. And for those who were unable to make it, we’ve uploaded all of the presentations to our YouTube page so you can catch up and be part of the conversation.
You can watch my full message to the community here.
Together, we’ve already made huge strides—over $435,000 invested in research, the expansion of the MED13L BioGENE study (an EEG brainwave study that helps researchers understand learning, communication, and development), and our largest project yet: $250,000 natural history study with Boston Children’s Hospital—read more here. These studies—built from your input and participation—are paving the way for treatments and better care.
But progress doesn’t happen without people. That’s why we continue to call on every family to share their story through surveys and platforms like Citizen Health. Each data point, each voice, strengthens our path forward.
I want to leave you with this: every contribution matters. Whether it’s completing the Priority Survey, hosting a fundraiser (like MED13L mom Ashley’s Mort’s 4th Annual MED13L Golf Outing), or simply sharing your story with a neighbor—you are making an impact. The challenges we face can feel heavy, but they also carry opportunities for growth, connection, and hope.
Thank you for showing up, for believing in the power of this community, and for shaping a better future for our children. One inchstone at a time, we are building a roadmap toward discovery—and a world worthy of our kids.
What is this and why does it matter? If you joined us at the Research & Family Meet Up this summer, you saw firsthand that your voice and experience matter—for guiding individual clinical care and for helping research understand MED13L Syndrome across the whole community. Marissa Mitchell, who led the 2022 speech study (now in pre-print), updated us on differences in speech diagnosis.Dr. Jen Bain, Scientific Advisory Board member who many remember from the 2022 conference, or from 2023 when she performed the skin biopsies used in Dr. Randy Stritch’s and Dr. Alicia Campbell’smitochondrial study, spoke about the importance of recognizing co-diagnoses such as autism or cerebral palsy. Dr. Natasha Ludwig reminded us that your perspective as parents and caregivers shapes how clinical trials are designed and measured. Our student team—Saif Khan, Kayla Clevenger, and Sophia Ambrose—showed how the data and stories you’ve shared through RARE-X, the Disease Concept Model, and Simons Searchlight are driving discoveries. AndDr. Caitlin Hudac, who also joined us in Baltimore in 2022, shared how the research from the 2022 BioGENE study is uncovering new insights into brain activity in MED13L. She even returned with her team to conduct a follow-up BioGENE study with our community (see pictures here).
It is every one of YOU who has given clinicians, researchers, and other families access to your experiences—helping to confirm and shape the future of MED13L. TheMED13L Syndrome Caregiver/Patient Priority Survey guides us as a community by showing what matters most to you and your family, and what should be measured as we move toward future clinical trials.
This isn’t just for MED13L-specific researchers and clinicians—the FDA agrees! Don’t just take our word for it—read more here. Official FDA guidance for drug development states: “Patient-focused drug development is a systematic approach to help ensure that patients’ experiences, perspectives, needs, and priorities are captured and meaningfully incorporated into drug development and evaluation. As experts in what it is like to live with their condition, patients are uniquely positioned to inform the understanding of the therapeutic context for drug development and evaluation.”
In other words: make every story count so we can measure what matters. Please take 20 minutes to complete this survey and help bring us one step closer!
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. Since June, twenty-three families have enrolled or began the enrollment process.
Citizen Health new platform that will bring all of your medical records together into one secure place. It will use advanced AI features, support multiple languages, and contribute directly to ongoing MED13L research.
Save time, stay organized, and support MED13L research.
🚨 Last Call for Nasal Swabs! 🚨 Is your child’s variant a variant of unknown significance (VUS)? Or do they have a missense variant classified as pathogenic or likely pathogenic? Unsure what that means? Watch this. We’re looking for additional samples to represent the diverse population of MED13L Syndrome.
👩👩👧👦 What’s needed:
A nasal swab from an individual with MED13L
A nasal swab from a household sex-related individual (parent or sibling)
Consent and testing materials will be shipped directly to your home by COMBINEDBrain.
This effort is part of a large-scale collaboration between COMBINEDBrain and Unravel Biosciences. Together, they’re harnessing patient biosamples and Unravel’s BioNAV™ platform to accelerate drug discovery across more than 110 rare and ultra-rare disorders.
Want to hear more? Check out the UnravelingRare episode featuring COMBINEDBrain CSO Anna Pfalzer, MED13L Foundation President Katie Boychuck, SYNGAP1 Research Foundation CEO Mike Graglia, and Unravel Bio Co-Founder Richard Novak.
📩 Interested in participating or have questions about eligibility? Email rheilmann@med13l.org.
Coming soon to a town near you!
This year, the COMBINEDBrain 2025 Roadshow is collecting blood and other samples at rare disease conferences across the country. ❤️
📍 Biorepository Locations left on tour:
🔹 Atlanta, GA – Dec. 4-5, TBD location. Check our Instagram for updates!
Questions? Email info@med13l.org
📚 Back to School Reminder!✏️
Make sure to request your own About Me template by emailing info@med13l.org. It’s a simple way to help teachers, therapists, and providers understand MED13L while highlighting your child’s strengths, interests, and needs—and spreading awareness along the way. 💙
Stay tuned for our newest series, the Voices of MED13L Podcast! Hear family stories, learn from one another, and gain valuable insights from special guests. Watch the trailer—created by MED13L sibling Rowan Dias.
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.
Ask your HR department today about supporting the MED13L Foundation!
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.
Please consider sharing a quote from your Sibs & Stripes siblings, or a note about them, along with one or two photos to info@med13l.org.
Internships
Rowan Dias — MED13L Summer ‘25 Intern
Internship Opportunities – MED13L Foundation
Do you know a high school or college student looking for meaningful internship experience? The MED13L Foundation offers unpaid, resume-building internships that provide hands-on experience in communications, advocacy, and nonprofit development. These roles are perfect for students interested in digital media, writing, nonprofit work, or healthcare advocacy.
🎙️ Podcast & Community Engagement Intern
Help amplify the voices of MED13L families through our upcoming podcast, Voices of MED13L. Interns will:
Assist with the podcast’s launch and promotion
Engage with our online community by responding to comments and participating in Facebook and Instagram groups
Support features like Reels, “Day in the Life” stories, and interviews
✍️ Campaigns & Content Intern
Join our creative team to build campaigns that raise awareness and support for the MED13L community. Interns will:
Help plan and brainstorm campaign themes
Collect family stories and write short features or quotes
Contribute to newsletters and social media content
💡 Fundraising & Development Intern
Gain hands-on experience in nonprofit fundraising and donor engagement. Interns will:
Assist with donor communications and stewardship
Help plan and support fundraising campaigns and events
Research potential donors, grants, and partnership opportunities
Details
All internships are unpaid and remote, with flexible scheduling
Designed to help build your resume and portfolio
Ideal for students in communications, marketing, nonprofit management, public health, or related fields
👉 Interested candidates can apply by sending a resume and brief statement of interest to info@med13l.org
One Mother Finds Joy in her Diagnosis
Emma with her parents, Sara and Paul Allen, at the 2025 Family & Research Conference
We were deeply moved to hear Sarah Allen’s story—MED13L mom and mother to Emma. On August 24, 2017, Sarah finally received the phone call she had been waiting for: Emma had a diagnosis—MED13L. Though the name was unfamiliar, Sarah cried happy tears. “I wasn’t alone anymore… Somewhere, somebody has heard of this. If there’s medical research out there, that was the best news I could imagine.”
For the first time in nearly three years, she felt like she was truly reading about her child. Online, she discovered a Facebook group of parents who shared stories that sounded just like Emma’s. Sarah described being “over the moon” as she checked the page daily, finding comfort in the words of others who understood.
Her journey was never without challenges—balancing endless specialist appointments, full-time nursing work, and raising two other young children. She recalls fighting for more therapy sessions and celebrating the small victories along the way. Yet through it all, she never felt anger. From the very beginning, she simply knew Emma was different and committed herself to giving her everything she could.
Stories like Sarah Allen’s remind us that while each MED13L journey is unique, they are bound together by resilience, hope, and the love of families who never give up. Even in the hardest moments, there is community, strength, and the belief in a brighter tomorrow.
✨ Interested in sharing your story? Please email info@med13l.org.
