How understanding ADHD helps us manage AADC deficiency issues

The better-known condition shares similarities with our daughter's rare one

Richard E. Poulin III avatar

by Richard E. Poulin III |

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Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disease with only about 135 cases seen worldwide since it was identified in 1990. So where do we go for help, and how do we care for our daughter?

These were questions my wife, Judy, and I asked ourselves when our daughter, Rylae-Ann, was diagnosed with AADC deficiency in December 2018. Five years later, we’re still asking these questions.

Little information about AADC deficiency was available back then. We had reactive knowledge, but there was no information on how to be proactive. We wanted to know what we could do to help our daughter improve or minimize issues.

We reached out to other rare disease support groups and began to learn. There are more than 7,000 rare diseases affecting Americans, so plenty of organizations offer assistance and advice. We also reached out to special needs groups. With each connection came more ideas and strategies that we could adapt.

Talking with parents of children with diseases that AADC deficiency is often mistaken for helped us feel more confident and empowered to care for our daughter.

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The benefits of physical therapy for children with AADC deficiency

Searching for strategies by symptoms

AADC deficiency is a rare genetic disorder that’s caused by a mutation of the DDC gene. Children with the mutation produce little or no dopamine. The lack of it is a key feature of AADC deficiency and how we began identifying organizations that we could borrow ideas from.

Judy is a special needs teacher with more than 10 years of experience before becoming a mom of a child with challenges. This background significantly helped our daughter. Judy associated the factors of attention-deficit/hyperactivity disorder (ADHD), a neurodevelopmental disorder, with similarities to AADC deficiency since it’s also related to a defective gene that makes it difficult for dopamine and neurons to work efficiently.

The challenges Rylae-Ann faced early in life and even after gene therapy were like the challenges Judy saw in her students with ADHD — specifically, trouble with concentration, anxiety, impulsiveness, mood swings, and sleep disturbances.

A young girl with brown hair and a pigtail, tied with a yellow binding, is seated and working on a project at a white desk. Adult hands are seen on the project. The girl wears a dark red shirt with white on the sleeves and shoulders. The floor is blue.

Rylae-Ann works one-on-one with her learning support teacher during class. (Courtesy of Richard E. Poulin III)

ADHD strategies

ADHD cases can differ greatly, but children with the disorder generally have concentration and impulsivity problems. We focused on these characteristics and why we wanted to adapt strategies from ADHD in our care for our daughter.

Rylae-Ann has a strict diet, and we saw improvements by using supplements and a meal plan. One of the ways we created her diet was by looking at the food recommendations for ADHD. We sought foods that supported dopamine production to promote higher energy levels. It’s recommended to increase foods high in folic acid and healthy proteins. At the same time, it’s important to limit sugar, refined carbohydrates, and saturated fats.

Another ADHD strategy is creating a sleep schedule. We’ve always treated sleep like medicine. We maintained a consistent schedule and “dose” of sleep. Before Rylae-Ann had gene therapy, it was tough, but we knew that her day would be better if we always tried our best to honor her sleep time.

A 2017 study showed that exercise was beneficial for dopamine production and cognitive function. In addition, it also allows us to work on our daughter’s physical therapy goals. Hacking the brain’s reward pathway through exercise is a strategy special education teachers use with students with ADHD. Exercise is a consistent and integral part of our daughter’s daily schedule.

The following strategy is a difficult one and probably the most challenging. We’re limiting technology usage. Research from 2020 shows the dangers of screen time and the effect technology has on a young, developing mind. That’s especially true for children with ADHD, so it’s why we heed the researchers’ advice more closely now. Despite knowing all the consequences, it’s still difficult to eliminate technology because of the excitement it causes our daughter and its ability to limit parental involvement. As we work to limit technology time, Judy and I make the time our daughter uses the iPad collaborative and a shared experience.

While she’s using the iPad, my wife and I use it with her. We engage her in conversation, challenge her thinking, and create social connections. We ensure that Rylae-Ann’s screen time is as balanced as can be, and we’re slowly working to limit its usage. All electronic devices are switched off and out of sight after her iPad time is up.

A young girl in a pink sleeveless top, seen from above, is looking at an iPad with a red border atop a yellow block. She's on a white carpet or rug with gray stripes.

Rylae-Ann enjoys her iPad time while practicing sitting. (Photo by Richard E. Poulin III)

Finally, we chunk learning tasks into more minor activities. We remember that less is more and taper our enthusiasm to get her to progress. Pushing too hard can have the opposite effect that we want.

A learning support teacher provides individual support as needed during school.

Learning should also be collaborative, but Rylae-Ann still needs time to break down her shyness. At home and in the classroom, as with ADHD students, we try to minimize distractions. The resources we give her are limited and related to visual checklists, schedules, and graphics.

All children benefit from a heavy dose of patience from their parents. Caring for Rylae-Ann sometimes is stressful, so we manage our stress levels, too. Our daughter might be stressed, as well, especially if we’re not in a positive mood.

Although AADC deficiency is rare, many organizations support similar diseases or have experience caring for shared symptoms. Using ADHD strategies, we improved our daughter’s daily experience and helped her make progress.

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.