A Rare Disease Parent’s Journey: Going Full Circle with TeachRare
On Christmas Eve, I lay with my daughter, Rylae-Ann, in the pediatric ward of the National Taiwan University Hospital. However, this night it was our decision to be there. The quiet floor housed nervous children and even more nervous parents. I was left reflecting on the year and our family’s journey, which brought me here.
That night I realized a peculiar situation that borderlines déjà vu. The realization begins with our dreams of becoming parents. My wife, Judy, and I are educators. We love children and watching them develop. We knew we wanted children – in fact, we thought the ideal number was around six kids. However, we wanted to ensure our education was complete and that we had stable jobs.
Just as we had planned, we completed our Master’s degrees and accepted rewarding positions in Singapore. The birth of our daughter followed, but that’s when the plan took a detour.
June 2018: St. Augustine, Florida
My wife and I returned home to Florida to show off our new daughter. She was smothered in kisses and attention as soon as she landed. In addition to visiting family, I also wanted to share with her the joy of the ocean. I grew up going to the beach and enjoying water activities. I believe there are powers and healing properties of water. It was a memorable moment for me to place her toes in the sand and watch the ocean water roll against her feet.
Shortly after, we continued our planned journey to start our new life in Singapore. This was our first adventure as a new family. Excitement was high, and we took plenty of pictures. Our daughter was showing signs of not meeting her milestones at about three months old. We suppressed any alarm bells because we didn’t want to be those new parents that worried about every little thing.
July 2018: Singapore Airport
In July 2018, we landed in Singapore. We took pictures to commemorate the landing in our new home. We continued snapping pictures and sharing everything on social media as proud parents do. We again had a plan for every aspect of our move, including for our daughter.
As Dad, I took charge of doing physical exercises with my daughter while my wife did house hunting. That was when I began seeing worrying symptoms of her eyes crossing and her muscles tensing. Again I dismissed it as me pushing my daughter too hard. In private, however, my fretting got the best of me, and I couldn’t resist Googling symptoms. We I began finding articles about deadly and rare disease I knew I had gone too far down the rabbit hole and again dismissed any worries.
The symptoms did not go away. It seemed like the more I wished, the worst it got. What started as fleeting signs became concerning episodes. My wife and I began to refer to them as spells, and they happened every three days. We went to the doctors and explained what we saw, our daughter showed her healthy side during observations. One evening the spell lasted too long, and we went straight to the emergency room.
That was the night we had to admit to ourselves that not all was right, and any ideas of a plan evaporated. All that mattered was our daughter. We detached from the world, ceased hobbies, disconnected from friends, and only slept when exhaustion commanded us to. We no longer had a digital footprint on social media and I am sure the absence of posts was a message in itself.
October 2018: Thailand Beach
We received a diagnosis of epilepsy, and the doctor gave us medication to treat her “seizures.” The diagnosis never sat right with us. We sought second opinions in Singapore, but still, no answers came. In October, we had a week off and planned to go to Thailand. Instead of taking a vacation, we decided to use it as an opportunity to talk with doctors in Thailand to see if they could come up with an answer.
Again no answer came. The doctors cited that it would be nearly impossible to diagnose accurately without medical records. I took a mental note to scan all records and put them on the cloud to improve our chances of getting a diagnosis. The case went cold quickly, and we still had several days left in Thailand. I was determined to have our first family vacation.
We jumped in the car and headed south. We found our way to a secluded beach along the Gulf of Thailand. I remained very isolated and wanted to avoid the hustle and bustle. During that trip, we attempted to have our first vacation and did our best to make memories, but with our daughter still showing spells, it was impossible to have a holiday.
I drove back to Bangkok to catch our return trip to Singapore. As I glanced in the rearview mirror of my wife soothing my daughter, the voices in my head reminded me that I had failed to get my family’s life back on track. The voices didn’t tell me that the worst was yet to come.
December 2018: Taiwan Hospital
The spells continued. We received a different diagnosis, but still, we were not satisfied. One night, my wife received a text from her brother sharing a Facebook story. It shared a story of a boy with an ultra-rare disease known as aromatic l-amino decarboxylase (AADC) deficiency. I dismissed the notion because of how rare it was. When my wife pointed out that the highest incidence rate was in Taiwan, where she is from, it became the forefront of my efforts.
I didn’t tell her then, but in my heart, I knew that my daughter had AADC deficiency. I began researching the disease and found a doctor that had experience. We booked an appointment, and the following week, during our Christmas break, we traveled to meet the doctor in Taiwan.
After a short observation, he confidently told us that she indeed had AADC deficiency. It was confirmed later with a genetic test, but we had the answer we were searching for, and it was the worse 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 she was eligible and healthy, she could enroll in a gene therapy study. On Christmas 2018, I promised my family would not have another horrible holiday like this. Our journey began to change.
The night before we met the doctor, Judy and I sat alone on a park bench at night contemplating what was happening to us. The was a lot of uncertainty, but I promised her one thing was for certain. We would never celebrate another holiday like this again.
July 2021: Singapore Airport
Our daughter was eligible, and we devoted ourselves to keeping her healthy. She underwent gene therapy surgery in November 2019. The results were nothing short of miraculous. She made so much progress that we knew we needed to change our environment to continue the progress.
A year after her surgery, we once again went searching for jobs. This time we wanted to be back in Thailand. In Thailand, Judy’s parents would be close. Also, therapy and health care would be much cheaper for us. It was an easy choice to move, knowing our daughter would have a support network and access to better care. We were committed to her.
We resigned from our planned positions and dream destination and moved to Thailand, where we had a better support network and affordable therapy. Judy and I planned to go to Singapore, and even saw it as a dream destination. However, those were our plans.
In July of 2021, we found ourselves at the Singapore airport taking pictures and enjoying our journey. We began to open up to family and friends about our journey. They were shocked to learn about the ordeal. I became more involved with the community and found that I could make a real change by opening up and sharing.
Our detour was ending, and we were now heading forward, albeit on a different path. It was not the original plan, but we accepted the new journey with open arms and became more committed by being more proactive for our AADC deficiency community.
July 2022: St. Augustine, Florida
The transition back to Thailand was the moment when I began to understand that I had a new life. It was different than what I had planned or dreamed, but that made it no less meaningful. With this change, I had to begin to open up.
I barely talked about my family’s problems with my family, let alone to friends or strangers. I was a closed book, but I knew I had to do something more for our community. Our family was blessed in many ways, and we wanted to do our best to help others find that same blessing.
One of the first ways we began opening up was to our AADC deficiency community. We provided an education workshop on Zoom about how we were beginning to build a curriculum. We combined our backgrounds as educators and incorporated therapy goals to make beneficial activities. These activities were not seen as lessons. Instead, they were opportunities also to make memories. We didn’t realize it then, but this was the beginning of Teach RARE caregiver workshops.
Later with the AADC Family Network, we began talking about our clinical trial experience. Once again, we talked very rarely about this topic. Partly because we were still in the trial but also because we were shy and not confident. During that meeting, we found a real purpose in sharing hope and information. We saw we could also work to raise awareness and provide support on how parents could navigate the clinical trial process.
This then led to me learning about BioNews. I began writing weekly columns for AADC News. The writing process was therapeutic, but I knew if my articles could reach even one parent, the work would be worth it.
We had opened up to our community and accepted our new life even more. Then came the hard step of opening up to family and friends. We opened up to family and friends about our journey by sharing my first AADC news article. They were shocked to learn about the ordeal, so we were the center of attention when we were back in Florida.
Once again, Rylae-Ann could enter the water, and I had a redo on sharing the joys of the ocean with my daughter.
October 2022: Thailand Beach
On a whim, my wife and I decided to take a road trip down the gulf coast of Thailand. Unplanned, we found ourselves in the same coastal beach town we had been in 4 years ago. I would not have even realized it if it weren’t for a Google Photos reminder.
Our family spent the vacation making memories and raising awareness for AADC deficiency. We found that the more we accepted our new journey and changed our lifestyle, the more enjoyment came. I became more confident and capable. With that came the crucial factor that my daughter made more progress. The lifestyle change surrounded me with positive energy and other passionate individuals.
December 2022: Taiwan Hospital
During the clinical trial for gene therapy, a treatment many parents pray nonstop for, COVID-19 caused it to end early. In addition to having the life-saving chance to participate, we also had the opportunity to end it early and resume a life that was changing for the better.
We had a choice to make. We could continue off into the proverbial sunset and receive a life comparable to our original plan, or we could complete the circle and fully embrace the new journey by returning to Taiwan for a second clinical trial. We decided to return.