The Journey of Beautiful Destinations — Richard E. Poulin III

Our attempts to feed our daughter, Rylae-Ann, who has aromatic l-amino acid decarboxylase (AADC) deficiency, were never a leisurely process. She fussed and spat out food while we endeavored to feed her. Understandably, it was a difficult task for…

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…

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…

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…

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,…

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…

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,…

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…

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…

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,…

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.

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…