I often write about various types of therapy in relation to aromatic l-amino decarboxylase (AADC) deficiency, as I believe they are integral to the well-being of children with this disease. Before gene therapy, the accomplishments our 4-year-old daughter, Rylae-Ann, made during her therapy sessions prepared her for…
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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Before we had a diagnosis, before we understood words like “neurotransmitters” or “genetic mutations,” my wife, Judy, and I were just doing what new parents are told to do. We put our daughter on her stomach and encouraged her to lift her head. Tummy time. Simple in theory. Not so…
Gene therapy is complete! Now what? The first day after receiving the monumental gift of our daughter partaking in a clinical trial for gene therapy, we asked ourselves this exact question. There were no handbooks on what to do after this revolutionary procedure. We began working with…
A sense of foreboding filled my mind when I first read that there are no approved treatments for aromatic l-amino acid decarboxylase (AADC) deficiency, a condition our 4-year-old daughter, Rylae-Ann, has. I closed my laptop and paced the room but quickly returned to do some research, because fear has never…
Since our family’s first trip to the hospital on that dark and rainy night a few years ago, hospitalizations have always been challenging. Our daughter, Rylae-Ann, who turned 4 this month and has aromatic l-amino acid decarboxylase (AADC) deficiency, would scream and grow tense with anxiety and…
Our daughter, Rylae-Ann, was born in April 2018. By December of that year, she had been diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, and we had received a subsequent verbal agreement to join a gene therapy clinical trial the next year. The eight-month wait while trying to…
Several years ago, sleepless nights plagued my wife, Judy, and me. This in turn allowed the fog of confusion to seep into every aspect of our life as we searched for answers regarding the mysterious affliction of our daughter, Rylae-Ann. Everyday challenges were only compounded by the emergency room admissions…
As the plane descended, my wife, Judy, and I peered out the window. We could see some city lights sprinkled across the island of Singapore, even though it was very late — or very early, depending on how you look at it. Despite the time and more than 24 hours…
Earlier this year, CheckRare, a learning platform for healthcare professionals and rare disease patients, held a panel discussion about the rare disease aromatic l-amino decarboxylase (AADC) deficiency. The panel featured five leading experts in pediatric neurology and movement disorders, including two doctors I have spoken with…
When my daughter, Rylae-Ann, was about 3 months old, she wasn’t meeting her milestones. Then came the “spells,” which we thought were seizures. These unknown occurrences were followed by misdiagnoses and several hospital admissions. My wife, Judy, and I were uncertain about the initial diagnoses. We weren’t…
The chat message came late in the evening just a couple of weeks before Christmas 2018. My wife, Judy, and I lay in bed staring at our phones, trying to figure out how we could help our daughter, Rylae-Ann. We didn’t even know what she had at the time and…
Late in the evening, a car-hailing service picked us up, and with a hurried but firm voice, we told the driver to go quickly to the emergency room. We crossed the island streets to the large children’s hospital at its center. The roads were soaked as rain continued to fall.
The taxi came to a halt in front of our house on Sunday morning. The windows were tinted, but I knew who was inside. Out she came, a thin Asian woman holding a sack of rice and a black trash bag full of clothes. This wasn’t how I’d imagined the…
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