The endurance competition of keeping up with our early-rising daughter
Years after gene therapy, Rylae-Ann remains intent on maximizing every moment
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Most parents dream about the day their child finally sleeps through the night. When our daughter, Rylae-Ann, finally did, my wife, Judy, and I nearly had heart attacks.
Rylae-Ann was born with aromatic l-amino acid decarboxylase deficiency (AADC deficiency), a rare genetic disorder that affects the body’s ability to produce important neurotransmitters like dopamine and serotonin. In simple terms, her brain and body struggled to communicate properly. The condition affected nearly every aspect of her life: movement, muscle tone, feeding, emotional regulation, and especially sleep.
Before she had gene therapy, nights in our home felt more like overnight shifts at a hospital than restful evenings. Rylae-Ann would wake constantly, cry for hours, and seem completely disconnected from the concept of bedtime. Judy and I worked in shifts because neither of us could function without at least some sleep. Even then, we operated like exhausted zombies fueled by caffeine, adrenaline, and parental survival instincts.
The big sleep
Then came gene therapy when she was just 18 months old. After the treatment, something unbelievable happened: silence. No crying. No movement. No tiny feet kicking the crib rails.
I remember us waking up suddenly in a panic. We shot upright in bed and stared at each other with the same horrifying thought: “Something is wrong.” We literally bolted upright only to find Rylae-Ann peacefully asleep between us.
I do not think parents of typical sleepers fully understand how terrifying quiet can feel when your child has never truly slept before.
That moment marked a major turning point in our lives. However, while gene therapy dramatically improved her sleep, Rylae-Ann still never became what I would call a “late sleeper.” To this day, she wakes up before sunrise with the consistency of a military alarm clock.
When she was younger, she developed a particularly aggressive wake-up strategy. She would crawl over to my side of the bed and physically pinch open my eyelids as if she were checking whether I was still alive. Apparently, snooze buttons are not allowed in her world.
Over time, my biological clock adapted for survival. Now I wake before her, not because I’m disciplined, but because I have evolved. Honestly, I’m not even sure coffee wakes me up anymore. I think fear does it.
Instead of fighting her natural rhythm, Judy and I decided to redesign our weekends and holidays around it. If our daughter was going to wake up at sunrise anyway, we figured we might as well make the most of every hour.
Maximizing every hour
Rylae-Ann scoots back home after an early morning jaunt at the park with her father. (Photo by Richard E. Poulin III)
I usually start the day with Rylae-Ann while Judy tries to catch a couple more precious minutes of sleep. The mornings begin with breakfast almost immediately after waking. With AADC deficiency, energy regulation and blood sugar balance can be important, so we try to start the day with healthy foods that keep her fueled. Meanwhile, I stand in the kitchen enjoying a second or third cup of coffee. After breakfast, we head to the park.
One unexpected blessing of having a child who wakes before the rest of humanity is that we practically have the entire park to ourselves. Under the soft, early morning red light, we turn play into therapy. Climbing playground structures becomes physical therapy. Running barefoot becomes balance training. Swinging helps with regulation and coordination.
Most people simply see a family playing at the park. What they do not see is years of intentional adaptation hidden inside every activity. Those early mornings became some of our favorite memories. There is something peaceful about watching the sunrise while your child works on skills doctors once said might never happen.
By mid-morning, Judy takes over with learning activities connected to what Rylae-Ann worked on during the school week. As educators, we naturally blend learning into daily life. Reading, writing, problem-solving, and communication practice become part of the rhythm of the day.
By then, the rest of the world is finally awake, so we move on to swimming, horse riding, therapy appointments, community outings, and play dates. Somewhere in there, we try to remember to eat lunch.
Keeping up with Rylae-Ann can feel like training for an endurance competition. By sunset, our entire family is exhausted. Rylae-Ann usually rolls into bed around 6:30 p.m., completely worn out from maximizing every moment of the day. Truthfully, Judy and I are usually not too far behind her.
Having a child with a rare disease forces you to adapt. The life you imagined may not look the way you expected. Schedules change. Priorities shift. Sleep becomes negotiable. But sometimes those adaptations become the very things that create the best memories.
We learned that instead of trying to force our daughter into a “normal” lifestyle, it was better to build a life around helping her grow, thrive, and experience as much joy as possible.
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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