The benefits of physical therapy for children with AADC deficiency

Movement is essential to the body and mind, this father realizes

Richard E. Poulin III avatar

by Richard E. Poulin III |

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As a baby, our daughter, Rylae-Ann, had very poor muscle tone. It was barely enough to sustain her body. When she began missing her milestones, the importance of movement became apparent to my wife, Judy, and me.

Rylae-Ann was born with the rare disease aromatic l-amino acid decarboxylase (AADC) deficiency. This causes a wide range of symptoms, including low muscle tone (hypotonia), movement problems, and developmental delay. Because our daughter wasn’t moving, it was a challenge to complete typical routines.

We wanted to begin physical therapy (PT), but there was no specified plan for those with AADC deficiency. Luckily, we found Wings Therapy and Learning Center in Singapore. Its CEO and founder, Judith Julia Justin, has a son who faces health challenges similar to Rylae-Ann’s. So thanks to Justin’s familiarity with rare disease, our daughter was able to make significant progress. As a result, it’s become important to Judy and me to shed light on the benefits of physical therapy.

As founders of the newly formed nonprofit organization Teach RARE, we’ve created a series of free, online, supportive events for caregivers. The first event, which was held on Feb. 19, featured a presentation from Wings Therapy staff, who focused on how to combine physical therapy and educational strategies at home.

The following are my key takeaways from the session.

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Helping Our Daughter Push Through Multiple Therapy Sessions

Physical therapy isn’t just about the physical

When setting physical therapy goals for Rylae-Ann, I fixated on the physiological, musculoskeletal, and functional. However, a fourth component is just as essential: mental and emotional benefits.

PT can help support a child’s mood, behavior, and hormonal regulation. You and your child’s therapist play a substantial role in managing their mental health.

Our daughter’s high anxiety made it difficult for her to receive treatment at the hospital, and even combing her hair was challenging sometimes. Physical therapy supported her progress in managing her emotions.

A young girl smiles while holding a cup filled with something red. Her hair is tied back with a gold bow and she's wearing a pink tank top. She appears to be inside a religious temple, as there are various statues of monks behind her.

After starting physical therapy, Rylae-Ann made improvements in movement and emotion management. (Photo by Richard E. Poulin III)

Fewer hospital trips

Before we began physical therapy, we were scared to move our daughter. We thought it would induce what we believed to be seizures. After we learned the episodes were actually oculogyric crises, we immediately began intensive therapy, but it was too late.

Because she was largely immobile as a baby, our daughter’s hip didn’t form correctly. She needed to have hip surgery and wore a spica cast for three months. Getting her into physical therapy sooner could have helped prevent this. PT is often considered a proactive approach to healthcare, as it can help prevent joint dysplasia, limit the need for medication or surgery, and reduce hospital visits.

A young girl lies on a hospital bed as two medical providers in white coats and face masks attend to her. They appear to be in the pediatric unit of the hospital, as the bed is bright orange, the wall is green and features a painting of children, and there's a purple stuffed animal attached to a piece of medical equipment.

Before her parents started physical therapy, Rylae-Ann had a dislocated hip and was required to stay in a spica cast for three months. (Photo by Richard E. Poulin III)

Creating a daily schedule

Don’t think of PT as a session that occurs once or twice a week. Instead, it should be a continuous part of the day. Although establishing a regular routine may seem impossible, creating a schedule will help you and your child.

By incorporating physical therapy goals at home, you are developing an exercise program for your child. There is a wide variety of exercises that you can do to achieve specific goals. They often require caregiver support, and it’s best if two caregivers are able to work as a team.

To create the best program for your child, a professional therapist should regularly monitor your child’s hips and spine. Exercises should align with your child’s current ability level and consider how their condition affects their body and movement. It should also match your comfort and physical ability level since you are providing care and support. You can slowly progress as you each gain confidence.

Schedules will look different for each family. However, it’s best to space out your child’s daily physical movement into intervals. Below is a sample schedule that could be coordinated around sleep.

A sample physical therapy schedule includes morning, afternoon, and evening routines. The morning routine involves 20-30 minutes of stretching, 15-20 minutes of tummy time, 10 reps of transitions, and 40 minutes of supported standing. The afternoon routine involves 10 reps of sitting to 4-point and 5 reps of supported stepping. The evening routine involves 40 minutes of supported standing and 5 reps of supported stepping.

Creating a home exercise schedule can support you and your child in navigating daily life and accomplishing goals. (Courtesy of Richard E. Poulin III)

Even if your child may never walk, physical therapy can still improve their well-being and be a vital part of their life. As Judy and I gained confidence, and as Rylae-Ann learned to tolerate more exercises, our daughter made progress while we all made memories.

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.