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, would scream and grow tense with anxiety and…
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 clinical trial the next year. The eight-month wait while trying to…
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, Rylae-Ann. Everyday challenges were only compounded by the emergency room admissions…
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 look at it. Despite the time and more than 24 hours…
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.
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…
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