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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.

What are the chances that a girl from Taiwan would marry a man from the U.S., whom she happened to meet in Thailand, and unbeknownst to them, they were both autosomal recessive carriers of an ultrarare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency? Even though…

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.