[LETTER TO THE EDITOR] For Yanni, for Science, for Hope: Marking Malan Syndrome Awareness Day

Every Aug. 19, families like ours join with doctors, researchers, and advocates around the world for Malan Syndrome Awareness Day. It’s a day that means more to us than I ever could have imagined, because this rare disorder changed our son’s life, and with it, ours too.

Our son Yanni is 15. He’s vibrant, joyful, and endlessly creative. He loves to draw, dance, listen to music (especially traditional Greek music), and dive into the world of Roblox. He is also one of fewer than 400 people worldwide diagnosed with Malan syndrome, a rare genetic disorder that causes skeletal overgrowth and a wide range of neurological and medical challenges, from developmental delays and scoliosis to seizures, anxiety, and vision impairment.

Yanni was diagnosed at 8 years old, not long after he started having seizures. Like many parents in the rare disease community, we had never heard of Malan syndrome before that moment. Neither had most of the doctors we spoke to. There were no roadmaps, no guidebooks – just a name and a list of symptoms that seemed to keep growing.

Living with a rare disorder like Malan syndrome means uncertainty is always part of the picture. There have been hospital stays and hard days. But there has also been laughter, resilience, and an outpouring of support from those around us. Yanni’s light has never dimmed.

In the years since his diagnosis, I’ve tried to channel my background in science – and my drive as a mother – into something that could make a difference. I helped co-found the Malan Syndrome Foundation, and today I serve as its volunteer Science Director. Alongside a passionate international community of families, clinicians, and researchers, we’re working to accelerate the science, educate providers, and advocate for change.

We’re not passive observers. Families like ours are fundraising, participating in research studies, testifying before lawmakers, and making sure our children’s stories are heard. Because there is no cure for Malan syndrome yet, and treatments are still limited to managing symptoms. But science is catching up, and now is a pivotal time.

The landscape for rare disease research is shifting rapidly, thanks to breakthroughs in gene therapy and precision medicine. But research is expensive, and for ultra-rare disorders like Malan syndrome, the funding often comes directly from the people most affected. That’s why our family organizes an annual “Run, Walk, and Roll” event: raising awareness, raising funds, and building community in the process.

We held a fun run two years ago at St. Barbara Greek Orthodox Church in Durham, and thanks to the generosity of supporters, we’ve been able to help fund two research grants at the University of North Carolina at Chapel Hill. This year, we’re hoping to go even further.

If you’d like to learn more about Malan syndrome – or join us in supporting research – you can visit malansyndrome.org. If you’d like to contribute to our local fundraiser, visit runsignup.com/rockingitforyanni/Donate.

Yanni is one of hundreds. But he is also one of one. And so is every other child and family facing a rare disorder. Our story is just one thread in a much larger tapestry, and we hope that by telling it, we help others feel a little less alone.

Christal and George Delagrammatikas