The impossible became the new normal after we accepted AADC deficiency
The hustle and bustle of caring for Rylae-Ann has become second nature
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People often tell me they cannot believe everything my wife, Judy, and I have managed to juggle over the years. They ask how we keep up with the appointments, therapies, advocacy work, and daily responsibilities. The funny thing is that most days we do not even notice it anymore.
Life with our daughter, Rylae-Ann, has become so normal that it often takes someone else pointing it out for us to realize how unusual our journey has been.
Our rare disease adventure officially began when Rylae-Ann was 8 months old. Like many families, we spent months searching for answers as doctors tried to piece together what was causing her symptoms. Then, in one of the strangest twists of fate, a random Facebook post changed everything. That post led us to information about aromatic l-amino acid decarboxylase (AADC) deficiency. Suddenly, the pieces started fitting together. It was frightening, overwhelming, and oddly comforting all at the same time. We finally knew what we were fighting.
Since that day, life has felt like we have been flying by the seat of our pants. Looking back, those early years were absolute chaos. Medical appointments filled our calendars. Research articles filled our evenings. We learned to navigate specialists, therapy schedules, insurance paperwork, and the constant uncertainty that comes with parenting a child with a rare disease.
Ironically, when people comment on how busy our lives are now, I usually laugh and tell them, “This is the easy part.” The truth is that once you adapt to rare disease life, your definition of normal changes dramatically.
One of the best examples came after Rylae-Ann received gene therapy at 18 months and shortly after a major hip surgery. Gene therapy and the surgery gave us something we had desperately hoped for: progress. Judy and I knew that if we wanted to help close the developmental gap, we needed to make the most of every opportunity. The challenge was that we were both working full time as educators in Singapore.
Somehow, we made it work.
The fast lane
Every weekday felt like a carefully choreographed relay race. The school bell would ring at 2:30 p.m., and staff could leave at 3 p.m. Before the day even started, we would schedule a taxi to arrive at 3:10 sharp. When the clock struck 3, Judy and I would practically sprint out of our classrooms and race to our condo just down the road from the school.
Meanwhile, our nanny was running her own leg of the race. By the time we arrived, Rylae-Ann would be ready and waiting with a bag packed full of everything she might possibly need. The hand-off happened in the lobby. Child, stroller, snacks, toys, supplies, and exhausted parents all piled into the waiting taxi before racing across Singapore to her intensive therapy appointment.
If everything went according to plan, we would arrive a few minutes early. If not, we spent the ride nervously watching the clock and hoping traffic would cooperate.
The therapy sessions themselves were no less eventful. Intensive therapy was completely out of pocket and incredibly expensive. Unfortunately, Rylae-Ann was not particularly interested in protecting our investment. She often expressed her feelings quite clearly through crying, screaming, and vigorous protests.
Rylae-Ann smiles and laughs during a physical therapy session as her dad makes silly faces with her favorite stuffed animal. (Courtesy of Richard E. Poulin III)
As a result, Judy and I became active participants at every session. We brought balloons. We brought toys. We sang songs. We made silly faces. I performed dance moves that would have permanently damaged my professional reputation if any of my students had witnessed them. Whatever it took to keep her engaged, we’d do it.
By the end of each session, everyone was exhausted. The therapists were tired. Judy was tired. I was tired. Even the balloons seemed tired.
We usually took the train home. There was a station about 10 minutes from our condo, but we needed to transfer trains along the way. With a heavy-duty stroller, multiple bags, and a sleepy toddler, it often felt like an Olympic event.
Fortunately, Rylae-Ann usually fell asleep shortly after therapy. Those train rides became some of my favorite moments. Judy and I finally had a chance to catch our breath. We would talk about Rylae-Ann’s progress, discuss future goals, brainstorm new therapy ideas, and somehow coordinate the next day’s schedule.
Making the impossible possible
Once we arrived home, there was still plenty to do: dinner, a short family walk, bath time, and then finally bed. By the time our heads hit the pillow, we were completely spent. The next morning, we would wake up and do it all over again.
The intensive therapy program lasted two months before being scaled back to a few sessions per week. Yet, somehow, the pace of life never really slowed. There was always another goal to pursue, another milestone to work toward, another challenge to overcome.
That’s the funny thing about life with AADC deficiency. At first, everything feels impossible. Then it feels overwhelming. Eventually, it simply becomes your routine.
These days, when someone comments on how busy our lives seem, I usually smile. They are seeing the polished version of our story. They did not witness the sprinting through school hallways, the frantic taxi rides, the train station marathons, or the embarrassing dance performances that somehow counted as physical therapy support.
Once you accept rare disease life, the hustle and bustle becomes second nature. What once felt extraordinary simply becomes another Tuesday.
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.
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