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…
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 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…
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 restart the process after receiving a new diagnosis. We had three different diagnoses in six months…
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 not an ideal place to raise our daughter, Rylae-Ann, who has aromatic l-amino acid decarboxylase (AADC)…
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 of medications would alleviate her symptoms. But administering her medication has never been…
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 of the first changes that came our way after our daughter Rylae-Ann’s diagnosis was new friendships.
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 we knew about education. Although we are teachers, we never sought to teach other families. Instead,…
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 acid decarboxylase (AADC) deficiency, this is not easily remedied. It is an issue that we constantly…
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 learn about interventions and proactive steps. We concentrated on improving her eating to…
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