These potty training tips helped our child with AADC deficiency

With the weight of a diagnosis, things like potty training were put on hold

Richard E. Poulin III avatar

by Richard E. Poulin III |

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The road to potty training our daughter was one of the most difficult journeys my wife, Judy, and I set out on. More significant challenges took precedence before this, but potty training was an inevitable milestone we knew we would eventually have to tackle.

When our daughter, Rylae-Ann, was born, we noticed signs that something was wrong. But we dismissed them as new parent jitters and even laughed at the strange occurrences. When her bowel movements came, for example, they would often happen in what we described as a “poonami.”

But the more milestones Rylae-Ann missed, the greater our concern became. Eventually, we identified the cause as aromatic l-amino acid decarboxylase (AADC) deficiency, a genetic disorder that affects the nervous system. At that point, missed milestones were the least of our problems. We needed to fight to keep her alive.

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Content with diapering

After Rylae-Ann’s AADC deficiency diagnosis, we didn’t think much about potty training her. Instead, we invested in bulk diaper purchases and looked for brands that catered to her growing size but were still within our budget. We even had to create a diaper when she had hip surgery.

Fortunately, when Rylae-Ann was 18 months old, she had gene therapy to treat her condition. After that, she began progressing in her development, but Judy and I were still unconcerned about potty training. We put all of our efforts into physical therapy and speech therapy. I dreamed of the day she could hold my hand, walk along the beach, and say, “I love you, Daddy.”

In the meantime, diapers were easily hidden under her clothes. We worked out a changing routine that Formula One pit crews would envy.

The need for transitioning away from diapers

A toddler lies face-down on a pink and yellow bed, watching a tablet as her mom holds a blow dryer over the young girl's bottom, which is covered by a diaper over a large, blue spica cast that stretches from above the waist to the ankles on both legs.

Rylae-Ann’s mom dries her bum after putting on a custom-made diaper to fit the spica cast she wore after hip surgery. (Photo by Richard E. Poulin III)

As Rylae-Ann began to gain the ability to walk and attend school independently, we knew it was time to start the journey of toilet training. It was a relief not to have to pay the monthly diaper bills or scour online for a size that matched her quickly growing size.

We approached the challenge as a team.

Judy and I began by helping Rylae-Ann communicate her need to go by teaching her hand signals that were always used in conjunction with a phrase. She was actively moving but was still a ways away from speaking, so continuing to use a form of sign language would be necessary.

While she was still wearing diapers, we would regularly send her to the toilet and discuss potty time. We did this frequently. If she used the potty, we would shower her with praise.

When she continued to use her diaper, we did not scold or embarrass her. However, we did talk with her. We reminded her that she could use the hand signals to let us know.

The move to big-girl underwear

A young girl who's probably 6 or 7 smiles and poses for the camera barefoot. She has her hands inside the pocket of a colorful hoodie and is smiling and projecting happiness. She stands in front of a wall with several green, tan, and pink plastic storage containers.

Rylae-Ann poses for a recent photo, four years after receiving gene therapy to treat her AADC deficiency. (Photo by Richard E. Poulin III)

When Rylae-Ann became a regular toilet user, we upgraded her to underwear. We made a massive occasion out of it, and her grandma even sent her “big girl” underwear featuring princesses, unicorns, and cartoons.

She was proud of her underwear collection, and eventually, she used words to tell us she needed to use the bathroom. She would wear a diaper only at night, because every other day or so, she couldn’t make it through until morning.

Although she had gene therapy, we knew Rylae-Ann would have to build her autonomic skills. Today, she consistently wakes up to use the bathroom at night, and in the morning, her diaper will usually be dry. However, if she doesn’t wake up to use the bathroom, her diaper might not be dry in the morning.

We are proud of her accomplishments two years after starting this journey. She still favors sleeping in our bed and needs a diaper at night just in case, but she has made excellent progress.

She will ask her teacher if she can use the bathroom at school. Then she’ll make her way there, do her business, and return to class with her big-girl underwear in order and her school uniform properly on.

When we tackled this journey, Judy and I understood that accomplishing this significant milestone required a huge patience factor. The positive changes came slowly and were barely perceptible, but as always, we had to remain consistent and committed to our efforts on this journey together.

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.