Shining a light on rare diseases through the power of storytelling

Healthcare Science Week, continuing here in Thailand through March 14, is an annual event that originated in the U.K. As part of our observance, we engage students by having them explore and share news stories that capture their interest. This year I’ll set the stage for that by sharing a research article with contributions by my wife, Judy, and me, to support families in the aromatic l-amino acid decarboxylase (AADC) deficiency community.

When our daughter, Rylae-Ann, was diagnosed with AADC deficiency, Judy and I were thrust into a world of uncertainty. There was no road map, no clear answers. We just embarked on this rare journey together in a desperate search for hope. That came in the form of our daughter’s pioneering gene therapy, a medical breakthrough that gave her a second chance at life.

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Rylae-Ann Poulin reaches for a leaf in 2019 as part of her post-gene therapy treatment. (Photo by Richard E. Poulin III)

Healthcare Science Week is designed to celebrate professionals across science, engineering, and health. Yet with so much ground to cover, rare diseases often remain in the shadows.

However, with Kebilidi (eladocagene exuparvovec-tneq) — the first brain-administered gene therapy for AADC deficiency, approved in the U.S. and, as Upstaza, in the U.K. and Europe — it’s time to shine a light on these conditions. This therapy didn’t just change our lives; it saved our daughter’s.

As an administrator at the Thai-Chinese International School, I strive to ensure that students see the impact of scientific discovery beyond textbooks. Personal stories are powerful teaching tools. They don’t just make lessons more engaging; they forge connections, inspire curiosity, and challenge students to think critically about real-world problems. I hope that by sharing my family’s journey, I can ignite a passion for science and medicine in the next generation.

Around 80% of rare diseases are genetic, and their mysteries are unraveled by healthcare scientists armed with cutting-edge tools and an unrelenting drive to find answers. They’re the unsung heroes behind breakthroughs in neuroscience and personalized medicine. But their work is only possible when people know these diseases exist.

Creating a spark for change through storytelling

Judy and Richard Poulin share their caregiver story in 2020. (Courtesy of Richard E. Poulin III)

Awareness fuels action. Healthcare Science Week isn’t just an opportunity to highlight scientific progress, but also a call to bring rare diseases into the mainstream. Over the years, I’ve stepped beyond the rare disease community and into my school’s classrooms and hallways, sharing our story with students and parents. Each time, I’ve seen the ripple effect firsthand. Parents have told me, “I had no idea rare diseases were this common.” Students have asked, “How can I help?”

That’s why I encourage all families in the AADC deficiency community to share their story. We’re not just parents navigating an uncertain journey. We’re also advocates, educators, and partners in scientific progress. Healthcare Science Week is more than just a recognition of brilliant minds. It’s a megaphone for those who need to be heard.

I’ll share my research and personal experiences with my school’s community, and I hope you’ll do the same. Your voice, your story, and your involvement could be the spark that inspires the next scientist, the next advocate, or even the next medical breakthrough that changes lives.

Note: AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of AADC News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to aromatic l-amino acid decarboxylase deficiency.