Setbacks are just stepping stones for our child with AADC deficiency
Five years after hip surgery, Rylae-Ann is making great strides
Starting something new is never easy for a child with aromatic l-amino acid decarboxylase (AADC) deficiency, especially when it involves doctors, clinics, and the unknown.
Two weeks ago, we had a false start at a new physical therapy clinic. Anxiety got the best of our daughter, Rylae-Ann, and the visit didn’t go as planned. But last week was different. With patience, preparation, and teamwork, she was able to manage her anxiety and even look forward to the visit.
That happened because my wife, Judy, had the brilliant idea to incorporate the upcoming visit into her homeschooling lessons. (Judy, an educator by profession, teaches a small group of students, including Rylae-Ann.) She designed an entire unit around the hospital as a theme. In English, the children practiced matching medical vocabulary words with pictures. In math, they solved addition and subtraction problems using health-related examples. And in science, they reviewed bones and muscles, learning how doctors help us become stronger.
Rylae-Ann Poulin rests in a spica cast following surgery on her hip in the summer of 2020. (Photo by Richard E. Poulin III)
By the end of the week, all the children were more knowledgeable and excited about the visit. Rylae-Ann even ended one lesson by proudly exclaiming, “I’m going to visit the doctor on Friday!”
Friday finally arrived. I nervously waited at work, hoping everything would go smoothly.
We made the appointment because Judy and I had started to notice Rylae-Ann having some issues with balance and coordination. After she gained so many skills following gene therapy, the small areas that needed improvement became more noticeable.
That morning, Judy shared a picture of Rylae-Ann standing proudly, pointing at her hip. The memory took us back to a very different moment, just six months after her gene therapy in November 2019.
At that time, her pediatric orthopedic doctor had recommended major surgery to correct her hip socket, which had never formed properly because she hadn’t been able to put weight on her legs.
It was a daunting prospect. After brain surgery only months earlier, another operation felt like a big setback. Worse, the procedure required her to be in a spica cast for three months.
But as a family, we faced it head-on. When the cast finally came off, Rylae-Ann amazed us all. She started making exceptional progress that eventually led to her being able to run and jump. She defied every expectation.
Now, five years after the surgery, the doctor told us something we had dreamed of hearing: her hip looked “normal.” His words were music to our ears. After a short evaluation and some tests, he found no significant concerns. Another win!
Growing stronger
Rylae-Ann’s new physical therapist demonstrates some exercises that her parents can do at home. (Courtesy of Richard E. Poulin III)
The physical therapist was also impressed by Rylae-Ann, and that helped alleviate our fears. He was surprised by everything she was able to do after he learned about her rare disease and hip surgery. He did notice the issues Judy had pointed out, however.
To address those subtle balance and coordination issues, he recommended a few months of physical therapy. His approach would use resistance bands, focusing on strength and control. Knowing how proactive we are as parents, he even assigned us “homework” exercises to do together.
This reminded us of an important lesson. No matter how dedicated we are as caregivers, there is real value in having a licensed professional guiding us. Their expertise not only helps our children, but also supports us in building a balanced life as caregivers.
Looking back, what once felt like setbacks turned into stepping stones. Whether it was surgery, therapy, or anxiety, each challenge has helped Rylae-Ann grow stronger. And as parents, Judy and I have learned that with preparation, creativity, and teamwork, we can turn even the most difficult moments into victories.
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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