When our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, and I felt utterly lost. The diagnosis was ultrarare, the prognosis uncertain, and the treatments limited. There was no road map or guide for this new journey we never imagined we…
The Journey of Beautiful Destinations — Richard E. Poulin III
Richard E. Poulin III is an American currently working as Head of Middle School for an international school in Bangkok, Thailand. He is also the president of the nonprofit organization Teach RARE. In 2018 his newborn daughter, Rylae-Ann, was diagnosed with the ultra-rare disease, aromatic l-amino acid decarboxylase deficiency. Richard shares his journey and aims to provide caregivers with strategies and tips to improve their family’s journey.
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When people hear about a rare disease, they often assume they will never encounter it. The word “rare” suggests distance — something that happens somewhere else, to someone else. The truth is very different. In the U.S., about 1 in 10 people live with a rare disease. While exact numbers…
When you’re the parent of a child with a rare disease like aromatic l-amino acid decarboxylase (AADC) deficiency, you quickly learn that progress doesn’t come in straight lines. It zigzags, loops, and sometimes takes detours through unexpected places. For our daughter, Rylae-Ann, one of…
For our family, July felt like running a marathon while juggling. The month involved a constant mix of motion, focus, and unpredictability. Each day brought challenges, milestones, and surprises. As parents of a child with the rare disease aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy,…
Rylae-Ann, my daughter, was born with aromatic l-amino acid decarboxylase (AADC) deficiency, an ultra-rare neurotransmitter disorder that disrupts the production of dopamine and serotonin. Before she received life-changing gene therapy at 18 months old, even basic developmental milestones felt like mountains. Since gene therapy, she’s made amazing…
When our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, and I stepped into a world few people know about. This rare genetic condition affects the brain’s ability to produce essential neurotransmitters, leaving children with severe motor, developmental, and autonomic challenges.
Parenting a child with a rare disease often means celebrating daily triumphs and overcoming unexpected hurdles. For my wife, Judy, and me, our daughter Rylae-Ann’s journey with aromatic l-amino acid decarboxylase (AADC) deficiency has taught us that even simple milestones can bring surprises. Recently, Rylae-Ann began…
As parents of a child with aromatic l-amino acid decarboxylase (AADC) deficiency, travel has always required strategic planning and careful accommodations. From the earliest days of our daughter Rylae-Ann’s diagnosis at just 8 months old, my wife, Judy, and I learned to navigate the world differently. Every…
It was bound to happen. After six years of dodging it, our daughter, Rylae-Ann, finally caught COVID-19. For my wife, Judy, and me, this triggered a rush of emotions, including fear, worry, and, ultimately, gratitude. Rylae-Ann isn’t like most kids. At just 8 months old, she was diagnosed with…
I’ve always struggled to find the right words for what I’m about to describe. Maybe it’s because it feels too vulnerable, or maybe I haven’t fully unpacked the emotions. But as another school year comes to a close, with all the celebration, the final curtain calls, and the proud goals…
When our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, and I were overwhelmed and unsure where to begin. Initially, our primary concern was survival. After she received gene therapy at 8 months old, we could finally ask the next big question: How…
My daughter, Rylae-Ann, is a beautiful, bright little girl with a rare genetic condition called aromatic l-amino acid decarboxylase (AADC) deficiency. If you’ve never heard of it, you’re not alone. Most doctors haven’t, either. It’s a condition that affects the production of the neurotransmitters…
During a recent visit from another parent whose child has aromatic L-amino acid decarboxylase (AADC) deficiency, a small comment made my wife, Judy, and I pause. “Your house looks like a kid’s gym!” she said with a laugh. We looked around, and she was right. Soft blocks…
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