As we approach Thanksgiving, I find myself reflecting on all that has happened in 2025 and my heart is overflowing with gratitude. This year, we asked our community to show up in big ways. We asked you to enroll in RARE-X and Citizen so we could better understand our children. And you did—you made every story count. We asked you to travel to Boston for our Family & Research Meet-Up, to participate in the Natural History Study, EEGs, blood draws, and all the pieces required to help us answer the questions that keep so many of us up at night. And if you couldn’t get to Boston, you showed up in other states, on community Zooms, and in our Facebook group—lifting each other up, sharing experiences, and reminding one another that none of us are walking this road alone.
This road can be isolating, but parenting a child with a rare disease has taught me one truth: you have to find your people. The ones who get it. The ones who steady you. The ones who remind you you’re not alone. Thank you for being those people for me and for each other.
I’m also grateful to share a big announcement: Phil Buta has joined us as the new Executive Director of the MED13L Foundation. Phil brings with him a wealth of nonprofit experience, a passion for mission-driven work, and a vision that matches the boldness of our goals for 2026. I cannot wait to see the places he will lead this Foundation and our families in the years ahead.
From the bottom of my heart, thank you for showing up this year—in every way you could—and for being part of this extraordinary community.
🗓️ Atlanta MED13L Family Meetup – Saturday, December 6th!
Just a few weeks away! We are excited to see many of you at our upcoming Atlanta family meetup.
📆 Saturday, December 6th, 2025
🕰️ 11:00 AM – 1:00 PM (lunch & conversation)
📍 Hudson Grille–Midtown, 942 Peachtree Street, Atlanta, GA 30309
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.
After lunch, families are welcome to continue the fun together! Some parents plan to visit Piedmont Park (free and great for kids) or the Georgia Aquarium! 🐟
We can’t wait to see you all there!
🚽 We Need Your Help! (ORTAS Survey)
As you may know, toileting abilities are reported by Rare families as one of the most consistent impacts on daily living.
COMBINEDBrain and Jeeva Informatics have created ORTAS: Observer Reported Toileting Abilities Survey
📝This 30-minute online survey consists of questions about a person’s diagnosis, symptoms, treatments, and ability to toilet independently, or not. Any level of ability is welcomed to participate!
Once the IRB-approved pilot study is developed and validated, this survey can be used in the future as a measure of success when testing new therapies for genetic disorders.
We need a total of 200 participants to be beta testers of this survey, including people with neurogenetic disorders and their siblings! We need:
● Caregivers of a person (of any age) with a NDD
● Caregivers of neurotypical children (ages 1-6) as controls
● Adults with a neurodevelopmental disorder (NDD)
Please email ORTAS@combinedbrain.org before the end of the year to get started or learn more!
🎤 Sophie is going to DC!
(Ella, left. Sophie, right.)
🎵 Music is helping to make a difference for MED13L! Sophie Seaver, musician and daughter of Board of Trustee, Nick Seaver (and Michelle Seaver), submitted her song, “Another You” to EveryLife Foundation for Rare Diseases and WON!
3,869 people participated in public voting — over 1,200 more than last year! Out of 235 entries, 20 incredible finalists were selected, and 10 artists were chosen as this year’s awardees. These artists use art, music, and poetry to advocate and share the lived experiences of people impacted by rare diseases.
We are so proud of Sophie for sharing her gifts to spread awareness of MED13L. Sophie (and other winners) will head to Rare Disease Week in Washington, D.C., where they will meet with governors, senators, and policymakers to advocate for rare diseases.
Her song was inspired by her twin sister, Ella, who has MED13L. “Another You” is a reminder that, while you may feel different or isolated by numbers, there is “another you” out there. Thank you to everyone who voted. We are blown away by the amount of support from the MED13L and rare disease communities.
Dr. Marissa Mitchell and Dr. Cora Taylor—both of whom presented at the 2025 MED13L Research & Family Meeting —have just published a new article on MED13L. It is always a milestone to see published research to help us (and our medical team) understand this rare disease. In this research, nearly all children studied with pathogenic/likely‑pathogenic MED13L variants had motor speech disorders (like childhood apraxia of speech), along with severe language, motor, and cognitive delays. Surprisingly, behavioral issues were less common than expected.
To quote the MED13L Foundation President, Katie Boychuck:
“I’m particularly passionate about this milestone because my early concerns that [my son,] Collin had apraxia were dismissed — until Dr. Marissa’s 2022 Simon Searchlight video changed everything. Once a fellow MED13L parent connected me with an apraxia-focused SLP and we switched therapies, Collin finally began making gains.”
Early speech/motor intervention and genetic counseling is key, and now we finally have the research to support this. We believe in the power of “Yet.” We may not have all the answers “yet,” but with every step forward, we move closer: driven by the power of patient-led research.
Over the years, our annual tournament has brought together more than 130 community members, raising over $107,284 for the MED13L Foundation! Your participation helped fund life-changing research and support for families like ours.
The 4th Annual MED13L Golf Tournament was a big success this year! A huge thank-you to Christina Seim for coordinating the event and bringing people together in support of MED13L Syndrome.
🎟️ Want to learn how to host your own fundraiser using our own custom-made pages? Learn more below.
She was not just my sister; she was my greatest teacher and source of inspiration.
— Mary Clare's sisters
Growing up, Mary Clare (left) was labeled "developmentally delayed" – a label that never captured her spirit or legacy. From a young age, Mary Clare battled a cleft palate, navigated through special education classes, and endured chronic and severe respiratory issues. Her life was further complicated by the absence of a genetic diagnosis, which remained elusive throughout her lifetime.
After her passing at 53, her sister, Anne, discovered MED13L Syndrome and recognized Mary in every symptom and story she read online. At a time when genetic testing wasn’t the norm, Mary Clare’s diagnosis was missed. But what if genetic testing confirmed a MED13L (or other rare disease) diagnosis?
Today, we honor Mary Clare by sharing her story and advocating for genetic testing, patient-led research, and more answers for families still searching. Because every family deserves to answer the question, "What if?"
Save The Dates!
🦓 2025 Rare Reception!
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!
📍Georgia Tech Hotel and Conference Center - 800 Spring Street NW, Atlanta, GA
🕒 Dec. 4th, 2025 from 5:30pm to 8:30pm EST
Come join us, along with COMBINEDBrain, Citizen Health, and MORE for an evening of networking, delicious food, and exciting conversations!
Join us for the 2nd Annual MED13L Concert Fundraiser!
📅 January 24, 2026
📍 Joe’s Live in Rosemont, IL
(Just minutes from O’Hare on Chicago’s northside.)
This night of music + community directly fuels our momentum. Because of your incredible support last year, we raised over $250,000, which has already funded:
• The first year of a three-year Natural History Study at Boston Children’s Hospital
• A groundbreaking EEG biomarker study
• New research projects that could lead to the first-ever treatments for MED13L Syndrome
Tickets are going fast! Book yours today! Can’t make it but think your employer or company might want to support this work? 👉 Email info@med13l.org to learn about sponsorship and donor opportunities.
📖 Book of the Season
Some of you may know Nikki McIntosh, the founder of the Rare Mamas® community. We are thrilled to announce her newest book, Rare Mamas: Empowering Strategies for Navigating Your Child’s Rare Disease. Nikki is a mother to a child with a rare neuromuscular disease called spinal muscular atrophy. After more than a decade navigating the complex, emotional, and often isolating terrain of rare parenting, she’s written the book she wished existed—one designed specifically for mothers raising children with rare and complex conditions.
Part companion, part tactical guide, Rare Mamas offers practical strategies, emotional support, and an unwavering sense of solidarity to the women walking this path.
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.
Meet our first Executive Director, Phillip Buta, CFRE!
Phil joined the MED13L Foundation because he was moved by the strength and determination of the families who make up this community. He focuses on supporting families, building partnerships, and helping drive the research needed to better understand MED13L Syndrome and improve the lives of those affected by it.
Phil has worked in nonprofit leadership for more than 20 years, with roles at Catholic Charities of the Archdiocese of Chicago, the Pritzker Military Museum & Library, and Healthcare Alternative Systems. Much of his career has been spent helping organizations grow, strengthening donor relationships, and advancing programs that make a real impact.
Phil holds a BA from the University of Illinois and an MA from Michigan State University, and he is a Certified Fund Raising Executive (CFRE). Phil is proud to be part of the MED13L Foundation and to support the work being done on behalf of families and individuals living with MED13L Syndrome.
Have you listened to our podcast, The Voices of MED13L?
