Hello Reader,
As we move through February, I am energized by the momentum building across the MED13L community. Rare Disease Month reminds us that visibility changes outcomes. When we show up in research, in policy, and in public awareness, we accelerate progress.
This month reflects that momentum in action. Sophie Seaver is representing MED13L in Washington, D.C. at Rare Disease Week on Capitol Hill, sharing her story and her music on a national stage. Advocacy like this ensures our community is seen and heard where decisions are made.
We are also strengthening the scientific foundation needed for the future. Suzanne Volpe has joined us as Research Coordinator to streamline participant recruitment, support biorepository enrollment, and help translate community engagement into research-ready data. Michael Dryzer, a postdoctoral researcher from Johns Hopkins University, is consolidating and analyzing our natural history data across Simons Searchlight, RARE-X, and Citizen Health to position MED13L for deeper scientific discovery.
Our focus is clear: complete the MED13L census, update and harmonize our data, and build the infrastructure required not only for clinical readiness, but for a deeper understanding of the disease itself. That understanding directly improves the clinical care our children receive today while accelerating the path toward future therapies. Every survey completed and every record updated strengthens both care and cure.
This is how rare becomes visible. This is how visibility becomes action. And this is how action becomes change for MED13L Syndrome.
Thank you for being part of what we are building together.
With gratitude,
February Highlights: Rare Disease Month
Welcoming Suzanne Volpe, Research Coordinator!
We are incredibly grateful to welcome Suzanne Volpe as our Research Coordinator.
Suzanne brings both professional expertise and lived experience. As a mom to two boys with autism, she understands what it means to complete surveys after a long, emotionally draining day. When Suzanne reaches out to you, know she is coming from a place of understanding.
Her background includes years of work with individuals with developmental disabilities, providing ABA services, serving as a Qualified Intellectual Disability Professional, and supporting families in special education settings. She also brings strong operational experience from her work at Aon, where she manages complex client portfolios with precision and accountability
Katie Boychuck met Suzanne shortly after their sons attended the same ABA clinic. She has become not only a close friend, but someone who consistently steps up when asked. Suzanne is proof that true friendship is about showing up.
The MED13L Foundation is building meaningful infrastructure with very lean resources. Families who may not have the capacity to volunteer are encouraged to consider who in their network might be able to contribute. The Foundation is actively seeking experience in marketing, fundraising, nonprofit operations, healthcare, research coordination, and special education.
If you know someone who believes in building something that matters, please send them our way.
Our children deserve a foundation built for the long term. 💙
Welcoming Michael Dryzer, PhD!
We’re excited to work with Michael Dryzer through our partnership with the Orphan Disease Center’s GCSX program!
Michael is a postdoctoral researcher at Johns Hopkins University, where he studies human decision-making and its broader applications. During his time with us, he will be analyzing and harmonizing natural history data across our key platforms, including Simons Searchlight, RARE-X, and Citizen Health.
This work is critical to strengthening our research readiness and ensuring our community’s data can meaningfully inform future studies and therapeutic development.
🚨 How you can help: As Michael begins this important analysis, now is the perfect time to log in to your registries and make sure your surveys are complete and up to date. Accurate, current information directly supports research progress for MED13L.
We are grateful to have Michael’s expertise advancing our mission!
Sophie Represented MED13L This Week in DC! 🎉
We are proud to share that Sophie Seaver has been named a 2025 Rare Artist Awardee by the EveryLife Foundation for Rare Diseases! Selected from 235 submissions and thousands of public votes, her music earned her an invitation to attend Rare Disease Week on Capitol Hill this week in Washington, D.C.
During Rare Disease Month (February 24-26), Sophie joined hundreds of advocates from across the country for training, storytelling, and meetings with Members of Congress. She shared her personal journey, represented the MED13L community, and had her music featured throughout the week.
This is an extraordinary opportunity for MED13L awareness and national representation. We are incredibly proud of Sophie 👏 and the meaningful strides she is making for our community.
Building The MED13L Care Collective
One of the most common experiences families share is walking into a doctor’s office and realizing you are the first person to ever say the words “MED13L Syndrome” in that room.
That moment can feel isolating.
Most of us can only imagine how meaningful it would be to see a physician who has already treated another individual with MED13L. Someone who has seen it before. Someone who does not start at zero.
That is why we are launching The MED13L Care Collective: a physician directory built exclusively by our community.
If you have a doctor, specialist, therapist, or clinician who has treated your child and is knowledgeable, compassionate, and willing to learn, we want to know.
👉 If you would like to recommend a doctor, please complete this form.
We cannot change how rare MED13L is. But we can change how connected our care becomes.
A New Space for Connection: Dreamers Health
We are excited to introduce a new space for conversation within the MED13L community: Dreamers Health.
This is not a replacement for our website, newsletter, or social media. Instead, it is an additional option for families who prefer a dedicated space for discussion outside of traditional social platforms.
We know that not everyone uses social media. And for some, logging in can feel overwhelming. Dreamers Health provides a focused, supportive environment where conversations can happen without the noise.
Inside this space, families will be able to:
• Connect with others living with MED13L
• Access shared resources
• Participate in moderated discussions
• Stay informed about events and updates
If you would like a space designed specifically for rare disease connection, we invite you to join us.
👉 Join the MED13L Community on Dreamers Health
We are building tools that meet families where they are, not asking families to meet us where they are not.
Sibs & Stripes: Celebrating MED13L Siblings 💙🦓
Behind many with MED13L is a sibling with a story of their own.
Sibs & Stripes is our space to celebrate these incredible siblings and share the unique bonds they have with their brothers and sisters with MED13L. Through their words and photos, we highlight relationships shaped by empathy, adaptability, and compassion beyond their years. These stories remind us that advocacy and strength often begin at home.
We are currently accepting submissions and would love to feature more MED13L siblings from our community.
👉 To participate, please send:
- A short quote from your sibling or a 1-2 short paragraphs about them
- One or two photos or videos
- Submissions can be emailed to skhio@med13l.org
We are also continuing to explore the Sibling Internship Program for siblings ages 17 and older who want to turn their lived experience into meaningful impact. Opportunities may include science, research support, marketing and communications, graphic design, fundraising, advocacy, law, finance, and nonprofit leadership.
Help us shine a spotlight on the siblings who walk this journey alongside our MED13L kids and whose stories deserve to be seen and celebrated.
Calling MED13L Families – Share Your Story on The Voices of MED13L 🎙️
We are inviting members of the MED13L community to join us as guests on The Voices of MED13L Podcast. This podcast is a space to share real journeys, celebrate progress, and connect families through lived experience.
If you are interested in participating, please email vdias@med13l.org with the following information:
- Your name
- Your child’s name, gender, and age
- Your time zone
Participants should plan for a casual, one-hour interview. The conversation will be informal and focused on hearing your family’s journey and where your child is at this stage in their life.
We are also building a list of families interested in sibling interviews for a special Sibling Takeover episode scheduled for Wednesday, June 3 at 8:00 PM EST. If your child’s sibling may be interested in participating this summer, please note that in your email as well.
Thank you for helping us amplify the voices of our community. We look forward to hearing from you!
Use promo code WearItShareIt for 15% off
One of the most powerful ways to spread awareness for MED13L Syndrome is simply by wearing it. MED13L Foundation gear sparks conversations, builds visibility, and reminds families they are seen and supported. Every hoodie, tee, and tote is more than apparel. It is advocacy in motion. All proceeds directly support the Foundation and the work ahead.
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Complete the Census!
Starting this month during Rare Disease Month and continuing through May, MED13L Awareness Month, we are working toward a bold goal: 365 stories.
All it takes is 1 minute! 👉 Complete the MED13L Patient Census today.
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As we reflect on this Rare Disease Month, we thank you for being part of this growing, powerful community. Every action, big or small, helps move MED13L forward.
💙 Together, we make every MED13L story count.
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