Our daughter’s resilience was the highlight of a trip to the dentist
We were proud of how she handled being examined for an impacted tooth
Parenting a child with a rare disease often means celebrating daily triumphs and overcoming unexpected hurdles. For my wife, Judy, and me, our daughter Rylae-Ann’s journey with aromatic l-amino acid decarboxylase (AADC) deficiency has taught us that even simple milestones can bring surprises.
Recently, Rylae-Ann began losing her baby teeth. Her adult teeth emerged soon after, and we were thrilled to witness this stage of childhood unfold. However, what initially seemed like a normal developmental step quickly turned into something more concerning.
AADC deficiency left Rylae-Ann with low muscle tone (known as hypotonia) and severe anxiety, especially during her early years. We spent a lot of time in hospitals, seeking answers and dealing with urgent breathing and feeding issues. These experiences, though necessary, were traumatic for her. She developed what’s known as pediatric medical traumatic stress, a condition that made any medical appointment, no matter how minor, a source of great fear.
Things started to change after she received gene therapy. Not only did her motor function improve, but also her anxiety. We implemented strategies to make trips to the hospital feel safe and even enjoyable. We deployed games, storytelling, and visual schedules to help her know what to expect. Slowly, she started to trust the process.
One of our most unexpected victories came when Rylae-Ann enjoyed her first dental checkup. What once felt impossible now felt like progress. Preventive care, something we hadn’t prioritized early on, became an essential part of our routine.
Still, no amount of preparation can prevent everything.
A full-circle moment
Rylae-Ann shows off a smile filled with baby teeth, gaps, and adult teeth after visiting the dentist. (Photo by Richard E. Poulin III)
A few weeks ago, Rylae-Ann began complaining about pain in her mouth. We initially assumed it was just the typical discomfort that comes with the emergence of adult teeth. But the complaints didn’t go away, and Judy, always attentive and intuitive, decided we should schedule a dental appointment, just in case.
The dentist gave her a clean bill of health for cavities. That was expected since Rylae-Ann loves brushing her teeth, thanks in part to the games and songs we used during oral placement therapy. But instead of stopping there, the dentist took Rylae-Ann’s concerns seriously. She recommended an X-ray to investigate further.
With growing confidence, Rylae-Ann happily walked into the X-ray room on her own, accompanied by the dental assistants. It was a moment that reminded us just how far she’d come.
When the results came back, we learned that an adult tooth was growing sideways and pushing against another tooth. She had an impacted tooth. It was damaging the baby tooth in its way and causing the pain she’d been describing.
The treatment plan was to extract the baby tooth and place a spacer, allowing the adult tooth underneath to grow correctly. It wasn’t the news we’d hoped for, but we were proud of how Rylae-Ann handled everything, especially her ability to express what she was feeling, a self-advocating skill she’s worked hard to develop.
As the dentist described the procedure, Judy was transported back to her own childhood. At 7 years old, she underwent the same treatment that Rylae-Ann now needed. It felt like a full-circle moment. Judy now has beautiful, healthy teeth, which gives us confidence that, despite the discomfort ahead, Rylae-Ann will emerge stronger from this experience.
Genetics may have thrown us a familiar curveball, but unlike in the past, we now have experience, resources, and a resilient little girl who continues to surprise us. We’re preparing her for the procedure at the end of the month, and we know she’ll handle it with the same strength and grace she brings to everything else.
The road with AADC deficiency is never smooth, but with love, preparation, and perspective, even the bumps become manageable. Life is filled with unpreventable problems, but completing the journey with a team ensures the best possible experience.
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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