The Journey of Beautiful Destinations — Richard E. Poulin III

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…

Singapore, a tropical island located near the equator at just over 1 degree north latitude, is known for its lush gardens, warm waters, and year-round sunshine. As idyllic as this paradise is, it was…

During our family’s diagnostic journey to find answers, we were prescribed various medications. After discovering that our daughter, Rylae-Ann, had aromatic l-amino acid decarboxylase (AADC) deficiency, we hoped a new set…

Things change, there’s no denying that. But when you’re handed the unexpected news that your baby, who was born healthy, has a debilitating disease, change can be life-altering. But change isn’t always bad. One…

Once we started joining aromatic l-amino acid decarboxylase (AADC) deficiency communities, families began reaching out, offering support, and providing information. As our knowledge about the disorder grew, my wife and I began applying what…

When a parent sees their child gripped with fear or anxiety, we immediately take action to reassure them that everything is all right and they are safe. However, with children who have aromatic l-amino…

We struggled to comprehend the news and reeled from the shock when our daughter, Rylae-Ann, was diagnosed with a rare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency. We tried our best to…