Christmas Diagnostic Odyssey

Christmas Eve Drinking Vodka in the Park

Judy and I sat hunched over on a bench at a random park we stumbled along as we walked the cold streets of Taiwan on the night of Christmas Eve 2018. Neither of us regularly consumes alcohol, but somehow, we thought a bottle of vodka and some juice would help to cool the burning inside. Alone, the two of us drank, with the stale white fluorescent light of the nearby convenience store offering the only light.

Judy and I traveled from Singapore on a hunch. A week before Christmas, Judy’s older brother found a random Facebook post about a child in Taiwan who had similar symptoms as our daughter Rylae-Ann. For eight months, we subjected our daughter to tests that required her blood, urine, and spinal fluid. She had an EEG, CAT, CT, and other scans. Everything came back inconclusive.

However, the Facebook post was the first real clue. The child in the post had a rare neurotransmitter disorder known as aromatic l-amino acid decarboxylase (AADC) deficiency. It seemed highly unlikely this ultra rare disease would be the cause of our daughter’s inability to thrive, but the highest incidence rate was in Taiwan – which is where Judy’s family is from.

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After reading the post, I began researching all I could online about it. There were some research papers about a clinical trial done in Taiwan, but no indication if there were more studies or if the drug was available. All I knew was we needed to meet Prof. Hwu, the research author. Fortunately, Judy’s younger brother lived in Taiwan, and he secured an appointment with him on Christmas Day 2023.

Our family landed in Taiwan on Christmas Eve and stayed at Judy’s aunt’s house. Judy’s mom was also there to help us. We barely ever left Rylae-Ann alone due to fears of her choking. The day before the appointment, Judy and I were filled with anxiety.

Deep inside, I knew that this was the mystery disease that had affected our daughter. However, I wanted Judy to have a few more days of hope while we waited for the appointment that would hopefully bring us some answers. Both of us knew by that point if Rylae-Ann did, in fact, have AADC deficiency, the research showed a very short life, constant care, and no cure available.

Judy’s mom and aunt forced us outside to relax while they watched over Rylae-Ann. They were tired of us pacing the apartment. We walked the streets with no place in mind. We came across a park and began to drink. It was by far the lowest point in our lives. Our daughter was striving to live, and there was nothing we could do to ease her pain. We had mounting medical bills to pay and new jobs that we could no longer commit to.

As we talked, we realized this fact. I promised Judy that we would never have another Christmas like this again. We chugged the remaining concoction and headed back to the apartment so we could rise in the morning and meet Dr. Hwu.

Outside the doctor’s office, we all nervously waited. I remember Rylae-Ann being noticeably calm that day. Before we went in, a nurse came out and asked us questions about why we thought our daughter would have this rare disease. We meticulously explained the her upward gazing eyes, tensing and twisting of her limbs, and how she had no mucles.

The doctor called us in. He took Rylae and did a quick examination. As he did his check, he asked us questions. At the end, he turned to us and said he was confident she had AADC deficiency. After all those tests, here was a doctor who could define her disease by just doing a short observation and listening to our story.

AADC Diagnosis in Taiwan
The appointment with Dr. Hwu when we learned our daughter had AADC deficiency.

Judy began crying. We finally had an answer but also knew the facts about this disease. But then came the big question I had been crafting in my mind. I explained what I learned from the research he published about the clinical trial. Prof. Hwu seemed surprised at the information I knew. He confirmed that the published clinical trials were closed, and the drug was unavailable.

There was an open clinical trial phase, but it was only available to Taiwanese. Judy immediately jumped in and proclaimed that Rylae-Ann was Taiwanese. A spot was available, and we could have it if we could keep our daughter alive and well. We were more than up for the challenge.

After she received gene therapy almost a year later, on November 13, 2019, she has been making excellent progress. I also kept my promise and made Christmas a wonderful celebration for our family. But it is also a time we reflect on our blessings and how far we have come since that night on the park bench.

As you head on your journey and cross a dark path, know there is a light on the other side. The journey may not be what you envision, but it can still be full of meaningful memories to share.

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