Leading the Way: An Interview with Mathijs van Unen

1. Can you tell us a little about yourself, your family, and how you got started in patient advocacy?

My name is Mathijs van Unen. My wife and I are parents to a wonderful little girl who was diagnosed with MED13L just before her second birthday. I work as a Sales Manager, which has taken me around the world and exposed me to many new experiences. But when we received our daughter’s genetic diagnosis, MED13L was completely unfamiliar to me.

My journey into advocacy began out of necessity. In Spain, where we live, there was almost no information or support for families affected by MED13L. Fortunately, we found the MED13L Foundation and connected with a few other Spanish families through WhatsApp. Not long after, my company offered to support our efforts by funding a website to raise awareness about MED13L in Spain.

That’s when we decided to start a formal advocacy group. We began with 14 families and have since grown to 20 — and we believe there are many more out there. Our group’s website (www.med13l.es) is launching soon and will serve as a hub for Spanish families looking for information, connection, and support.

Our mission is to raise awareness, push for better support from the Spanish government, and collaborate with other advocacy groups worldwide to advance research and work toward future treatments.

2. What was your experience like receiving your child’s rare disease diagnosis?

About a month before our daughter Emma was born, a routine pregnancy checkup raised some concerns, but testing found nothing conclusive. By the time she was five months old, we could tell something wasn’t right. Her muscles were very stiff, she couldn’t turn herself, and dressing her was difficult because her joints wouldn’t bend easily.

Despite our concerns, several pediatricians told us not to worry. But we pushed for another opinion. One pediatrician took one look at Emma and immediately sent her to see a pediatric neurologist. It was clear something was going on.

I don’t remember the name of the initial diagnosis, but we were told that Emma might never talk, walk, eat, or move independently. After the initial shock, we started therapies, and little by little, things began to improve. She began opening her hands, bending her elbows and knees more easily, and making progress.

That’s when we were referred for genetic testing, which came back in early 2023. We were told: “Your daughter has MED13L. It’s a rare, non-degenerative genetic disorder. There are only about 80 known cases worldwide, and we don’t know much more.”

It was difficult to process — especially with so little information or guidance. Thankfully, we later learned that there were more families than we’d been told, and there were active advocacy groups in other countries. Connecting with them helped us feel less alone and gave us a path forward. Since then, our journey has been one of continuous learning, appointments, and therapies — some successful, some not. But we remain focused on our goal: helping Emma grow into an independent young woman.

3. What inspired you to take on a leadership role in founding MED13L España?

It all started with the idea from my employer to build a website and share information in Spanish. We’d already been leaving helpful materials from Simons Searchlight and the MED13L Foundation at our daughter’s therapy centers, hoping they might help other families in the future.

When the idea for a website came up, we shared it with the WhatsApp group, and that sparked the beginning of a national advocacy effort. The 14 founding families came together with a shared commitment to make the diagnosis journey easier for others and improve the future for our children.

Together, we’ve grown our reach, raised funds, engaged Spanish researchers, and hosted our first national family meeting — with much more to come.

4. What’s one memorable moment or achievement that stands out in your advocacy work?

Two recent moments come to mind. First, on International MED13L Day, we collaborated with schools and local governments to raise awareness. Some lit up their buildings in orange and shared posts on social media to help people learn about MED13L.

Second — and perhaps most meaningful — was our first national family meeting. We brought together Spanish MED13L families, doctors, therapists, and researchers, including Dr. Bellusci, our national research lead. We also welcomed representatives from Simons Searchlight, the MED13L Foundation, and the French MED13L group. It was a huge milestone for our community, and I’m incredibly grateful to our team for making it happen.

5. What challenges have you faced in your advocacy work, and what have you learned?

The biggest challenge is that MED13L is not widely known, even among doctors. Most people have never heard of it, so every conversation feels like starting from scratch.

To address this, we created an educational flyer, invested in social media outreach, and built connections with researchers and other advocacy groups. We support anyone who shows interest and help connect them with others who can provide guidance.

The biggest lesson? Advocacy takes time and persistence. But if you keep going, progress will come.

6. What resources or tools have helped you most — and what would you recommend to other families?

We’ve made a conscious effort not to reinvent the wheel. Instead, we rely on resources from the MED13L Foundation, Simons Searchlight, and other advocacy groups in France, Germany, and the UK. We’re in regular contact with them and support each other wherever possible.

As parents, we also find that visual, easy-to-understand resources work best when explaining the condition to others. One challenge we face in Spain is that many therapists aren’t fluent in English, so having more resources translated into Spanish would be incredibly helpful.

7. How has Simons Searchlight supported you and your community?

Simons Searchlight was the very first resource we found after Emma’s diagnosis. The reports you publish help us understand what to expect as our children grow and which therapies to prioritize. It’s been an invaluable tool for both our family and our broader community.

8. What keeps you motivated as a parent and advocate?

Personally, my mantra is: “Make the best of every day.” Each day brings new opportunities to make a difference.

As a group, one message that resonates with us comes from a Spanish rare disease organization:
“Our families had to go to the mountains instead of the beach — but the mountains can be even more beautiful.”

That captures how we feel. We celebrate every milestone, no matter how small — because nothing is taken for granted in our community.

9. Is there anything else you’d like to share with the Simons Searchlight community?

From all of us at MED13L España, we send our warmest wishes to every rare disease family. Keep looking forward, be proud of how far you’ve come, and never stop pushing ahead!