The signs we missed of our daughter’s AADC deficiency

Hindsight provides a parent perspective on symptoms of a very rare disease

Richard E. Poulin III avatar

by Richard E. Poulin III |

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When my daughter, Rylae-Ann, was born, my wife, Judy, and I celebrated as all new parents do. We took photos and showed her off to family and friends. The excitement focused our attention on what was right. Years later, we realized noticeable symptoms were present after we learned she had aromatic l-amino acid decarboxylase (AADC) deficiency.

When Rylae-Ann was about 3 months old, she wasn’t meeting her milestones. Then came the “spells,” which we thought were seizures but later learned were an eye-movement disorder known as oculogyric crises. These are the common symptoms of AADC deficiency that usually prompt parents to seek medical advice.

There were signs before she was 3 months old, however. After our daughter received gene therapy about a year after her diagnosis, we had time to reflect on our journey. What we realized was that the things we’d laughed at and called funny occurrences were actually symptoms of AADC deficiency. They may not have seemed like red flags, but in hindsight, they were a result of her condition.

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A screenshot of an Instagram post shows a close-up photo of a newborn baby girl.

When Rylae-Ann was born, her parents celebrated every moment and didn’t notice potential symptoms of AADC deficiency until much later. (Screenshot by Richard E. Poulin III)

Digestive issues

I previously wrote about our daughter’s first bowel movement, which we called a “poonami.” This explosive mess was funny initially, but digestion was never easy for our daughter, which worried us a bit. Her bathroom routine was never as consistent as we thought it should be, and she could go a few days without a bowel movement.

Although this began when she was born, we explained it away as her body adjusting or simply the way her body worked. We attributed our concerns to being new parents.

A newborn baby girl sleeps in a pink cocoon-style bed.

Despite Rylae-Ann using a diaper, an extra layer was added for protection against an extra messy bowel movement. (Photo by Richard E. Poulin III)

Sleep disturbance

Before Rylae-Ann was born, Judy and I bought a bedside crib. We wanted our daughter close, and that’s exactly what we got. However, she never took to it and ended up sleeping between us. We used a cocoon-style bed that could fit there. The longest sleep we could get out of her was when she was nestled between us.

She never slept for too long. If we shifted in bed, she would wake up screaming. As much as we would’ve liked to, we couldn’t join her daytime naps. So we deployed a weighted blanket to fill in for our snuggles. This comforted her, but try as we might, she never slept for long.

It always seemed like she was awaking from a dream, as if she were falling. Again, we thought this was cute and always picked her up, comforting her from her scary dreams.

A close-up photo of a newborn baby girl with a pink bow on her head, a pink pacifier, and a white and pink polka dot onesie.

Despite Rylae-Ann having many difficulties as a newborn, her parents saw her as normal and perfectly healthy. (Photo by Richard E. Poulin III)

Droopy eyelids

Our daughter didn’t open her eyes for weeks after she was born. When she finally did, it was only a sliver. We cherished those peeks between her eyelids and coaxed her to allow her beautiful eyes to shine. Friends and family always asked if she had just woken up or needed a nap. We thought it was due to her sleep disturbances. Although her poor sleep didn’t help matters, later we learned it was due to the condition known as ptosis.

Ptosis is caused by a malfunction of the eyelid muscles, which meant our daughter couldn’t easily open her eyes. As new parents, we were more focused on improving her sleep than worrying about her eyelids. We thought we could let her save her energy for when she was a few months older. No need to be concerned or push her. She was still new to this world.

A newborn baby girl lies on her back on a pink blanket. She is wearing pink gloves and a pink bib that says "Mommy." Her eyes are nearly shut, which is a condition called ptosis, or droopy eyelids.

For several weeks after being born, Rylae-Ann didn’t open her eyes, and her parents dismissed it as just a newborn adjusting. (Photo by Richard E. Poulin III)

Feeding difficulties

Judy had booked five days in the hospital for postpartum care. This included the nurses observing breastfeeding sessions and coaching Mom and daughter through the process. Many new moms experience the challenge of working as a team to have their child latch on. The nurses thought Rylae-Ann had a little more difficulty, and the doctor advised clipping her tongue.

If you jumped at the last sentence, you could imagine our reaction as new parents when we first heard the doctor say those words. It turns out that a frenotomy is a common and relatively straightforward procedure for many babies. The doctor made a small cut to the muscles below her tongue to help her use more of her tongue to improve her feeding.

We convinced ourselves that feeding had been improved because there was no way anything was wrong with our daughter. Over the weeks, Judy and Rylae-Ann worked on improving feeding while I followed up each attempt by spoon-feeding breast milk to ensure our daughter was getting enough nutrients.

Before I slowly began to admit that anything was wrong after Googling symptoms, there were signs that we willfully ignored. Concerned parents should never be scared or worried about sharing their concerns with friends, family, and doctors. If you find a new parent expressing concerns, listen. You don’t have to go into full panic mode, but having them openly share their thoughts can make them more aware of what’s happening at a time when excitement may cloud their observations.

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.