Life Comes Full Circle as I Reflect on Our Journey With AADC Deficiency
This columnist's daughter has come a long way in a few short years
On Christmas Eve, I lay with my daughter, Rylae-Ann, in the hospital as she underwent testing as part of a clinical trial. While it was our decision to be there, the quiet floor housed many nervous children and parents who were there out of medical necessity.
I began to reflect on my family’s journey. Just as planned, my wife, Judy, and I had completed our degrees, accepted jobs in Singapore, and had a beautiful daughter. But life soon sent us down an unexpected path.
Judy and I went to Florida to show off our daughter to family. I also wanted to share the joy of the ocean. I grew up around water and believe it has healing properties. It was a memorable moment, but we still planned to start our life in Singapore.
However, we soon noticed that Rylae-Ann wasn’t meeting her milestones. We suppressed alarms. I exercised my daughter while my wife went house hunting. I saw Rylae’s eyes cross and her muscles tense. I dismissed it as pushing her too hard but began to research symptoms.
As the symptoms became more intense, Judy and I started referring to them as spells. One evening, a spell lasted too long, so we took Rylae-Ann to the emergency room. We admitted that not all was OK, and any plans for our future evaporated. All that mattered was our daughter.
Rylae-Ann was diagnosed with epilepsy and we were given medication to treat her “seizures.” The diagnosis never felt correct. We sought second opinions, but no answers came. We had a week off in October that we’d decided to spend in Thailand. But instead of taking a vacation, we used it to talk with doctors.
No answer came. Doctors in Thailand said it was impossible to diagnose Rylae-Ann without her medical records. I made a note to scan her records and store them on the cloud to improve our chances of a correct diagnosis.
Afterward, we still had time left in Thailand, so I was determined to have our first family vacation.
We drove south and found our way to a secluded beach along the Gulf of Thailand. We did our best to make memories, but it was impossible, as our daughter was still having spells.
I drove us back to Bangkok to catch our flight to Singapore. As I glanced in the rearview mirror and saw my wife soothing my daughter, the voices in my head told me that I had failed to get my family’s life back on track.
The spells continued. We received another diagnosis, but we still weren’t satisfied.
In December, Judy received a message from her brother, who’d seen a Facebook post about a boy with a rare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency. I disregarded it because it’s so rare. But when my wife, who’s from Taiwan, pointed out that the highest incidence was among people of Taiwanese descent, researching the disease became my primary focus.
I didn’t tell Judy then, but I knew that our daughter had AADC deficiency. I found a doctor with experience and booked an appointment. During our Christmas break, we traveled to Taiwan to meet with him.
The doctor confidently told us that Rylae-Ann had AADC deficiency, which he later confirmed with a genetic test. Her spells had actually been oculogyric crises. He had the answer we were searching for, but it was the worst possible scenario. There was no cure, and our daughter would have a challenging and short life.
Fortunately, the doctor informed us about a clinical trial. If Rylae-Ann was eligible and healthy, she could enroll and receive gene therapy. On Christmas 2018, I promised my family that we would not have another horrible holiday. Our journey began to change.
Our daughter was eligible, so we devoted ourselves to keeping her healthy. She underwent gene therapy in November 2019. The results were miraculous. She made significant progress, but we realized we needed to change our environment for that progress to continue.
We resigned from our planned jobs and moved to Thailand, where we had a support network and affordable therapy. Before starting our new journey, we returned to Florida in June 2022 and opened up to family and friends about our experiences. They were shocked to learn about the ordeal.
Once again, I brought Rylae-Ann to the beach, and it felt like I’d gotten a redo on sharing the joys of water with my daughter.
My wife and I decided to take a family trip down the coast of Thailand. Unplanned, we found ourselves in the same beach town we’d visited four years earlier. We spent the vacation making memories and raising awareness for AADC deficiency. The more we accepted our new journey and changed our lifestyle, the more enjoyment came. This also supported my progress with my daughter.
Although Rylae-Ann’s 2019 clinical trial ended early due to COVID-19, she still had the lifesaving chance to participate.
Now, we had a choice to make. We could continue into the proverbial sunset and enjoy a life comparable to our original plan, or we could fully embrace the new journey by returning to Taiwan for a second clinical trial that aims to measure the long-term effectiveness of gene therapy for AADC deficiency. We decided to return.
When I was in the hospital bed with my daughter on Christmas Eve, I thought back to that night four years ago when I promised my family we would never have a horrible holiday again. I knew that I had fulfilled my promise.
Note: AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of AADC News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to aromatic l-amino acid decarboxylase deficiency.