The Journey of Beautiful Destinations — Richard E. Poulin III

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.

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…

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…

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…

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…

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…

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…

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…

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…

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 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…

Every time doctors attempted to provide a diagnosis for our daughter, Rylae-Ann, we immediately would join the relevant support communities, start discussing things with other families, and scour the internet for interventions, only to…