Planning for the summer heat for your child with AADC deficiency

Summer sometimes has a way of sneaking up on us. One day, we’re all talking about school ending, vacations, swimming pools, and ice cream. The next, it seems, we step outside and it feels like someone opened an oven door in our faces.

For most families, summer means sunscreen, water bottles, and dramatically complaining while walking across a parking lot. For families like ours, it can mean something much more serious.

Our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency when she was 8 months old. AADC deficiency is a rare genetic disorder that affects the body’s ability to produce important neurotransmitters, including dopamine and serotonin. Before she received gene therapy, Rylae-Ann had severely low muscle tone, movement difficulties, oculogyric crises, sleep struggles, feeding challenges, and many other symptoms that seemed to control every part of her day.

When I think back to the early days, I remember how much my wife, Judy, and I still had to learn. We loved Rylae-Ann fiercely, but love doesn’t come with a medical manual. Rare disease parents often learn by doing, and sometimes because life scares us badly enough that we never forget the lesson. One of those lessons came from the heat.

Recommended Reading

May 13, 2025 by Richard E. Poulin III

This summer, we’re creating opportunities to build social skills

Lessons about heat

Before Judy and I truly understood how fragile Rylae-Ann’s body could be, we decided to take her to the park one late morning. In our minds, this was a wonderful parenting idea, as it would mean fresh air, sunshine, exercise, time outdoors, and maybe a few cute pictures. We were aiming for one of those wholesome family moments that looks beautiful in a photo album yet ignores all the behind-the-scenes chaos.

On the way to the park, the sun was already shining brightly. There wasn’t much wind, but we didn’t think too much about it. We reached the park and found a tree with a little shade to sit in. We started to have a snack and tried to enjoy the outing, but we noticed that Rylae-Ann looked more lethargic than usual.

That may seem like a simple sentence, but for AADC deficiency parents, “more lethargic than usual” can be difficult to judge. Before gene therapy, Rylae-Ann already had very low energy, weak muscle tone, and limited movement. Her baseline wasn’t the same as other children’s. That made it harder to know when something was wrong. This time, though, something felt different.

We didn’t wait around to see if things would improve. We packed up, rushed to get a taxi, and raced home. Once we were inside, we immediately cooled her down. Thankfully, she recovered, but Judy and I received a clear message that day: The heat wasn’t something we could casually work around. We had to plan for it.

Children with AADC deficiency can have autonomic dysfunction, meaning the body systems that control automatic functions may not work properly. These include sweating, blood pressure, heart rate, and body-temperature regulation. When a child already struggles to regulate body temperature, heat can become more than uncomfortable. It can cause fatigue, increased weakness, irritability, dehydration, overheating, and in severe cases, medical emergencies.

When Rylae-Ann was young, her parents kept her cool with a gel pack underneath her in the baby seat, plus a portable fan. (Courtesy of Richard E. Poulin III)

For our family, that park visit changed how we approached outings. We stopped treating outdoor time as something we could fit in whenever it was convenient. Instead, we planned around the heat. We went out earlier in the morning or later in the day. We avoided direct sunlight whenever possible. We looked for shade before we looked for playground equipment. We became those parents who checked the weather, humidity, stroller setup, backup transportation, and emergency exit plan before calling something a “quick outing.”

We also modified Rylae-Ann’s stroller. We added a cooling gel pack to the stroller seat and attached a strong fan. We dressed her to stay cool and dry, not to look cute. This was a major parenting sacrifice because baby outfits are ridiculously adorable. But breathable clothing, dry fabric, and comfort became more important than matching bows or perfect photos.

As summer arrives across the Northern Hemisphere, I hope other families take heat seriously, especially families caring for children with complex medical needs. Watch for changes in alertness, unusual sleepiness, flushed or clammy skin, vomiting, irritability, faster breathing, reduced urination, or anything that feels different from your child’s normal. When in doubt, move to a cooler place, remove extra layers, offer fluids if safe for your child, and contact your medical team or emergency services if symptoms are concerning.

Rare disease parenting often teaches us to celebrate small victories, but also to respect small warning signs. That day at the park could’ve been much worse. Thankfully, it became a lesson instead.

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.