A common virus can be a major hurdle for AADC-deficient children

Before our daughter, Rylae-Ann, was born, I read books and logged many internet hours learning about parenting. I wanted to be prepared. However, issues like common viral infections were deleted from my mind once I knew she had a rare disease.

My wife, Judy, and I didn’t know much about her condition; we could barely even pronounce it. We understood that aromatic l-amino acid decarboxylase (AADC) deficiency is a neurotransmitter disease that affects dopamine and serotonin production, but the rest was obscured by medical jargon in dense research papers.

Our time was spent fighting to keep Rylae-Ann alive. Most of the issues were centered on feeding and preventing aspiration. We also had to contend with her violent and long-lasting oculogyric crises — which are eye movement disorders that are a characteristic symptom of AADC deficiency — that occurred like clockwork every three days. When she was hit with her first viral infection, we were ill-prepared for the experience.

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A widespread childhood virus

As an administrator at a middle school, I’m beginning to see a spike in the number of students infected with respiratory syncytial virus (RSV). Cases usually arise a few months after the first day of school, with the largest wave arriving in December or January. Recently, a lot of attention was placed on the COVID-19 virus, but RSV can wreak a similar havoc in schools.

RSV is highly contagious, and schools create the perfect environment for an outbreak. This viral infection is common in young children, with nearly all kids being infected by the time they turn 2, when immune systems are still developing. RSV can cause various symptoms, but the most serious complications include respiratory tract infections like bronchiolitis or pneumonia.

RSV in AADC-deficient children

In 2019, Rylae-Ann was hospitalized due to complications related to RSV. (Photo by Richard E. Poulin III)

For typical children, RSV symptoms can leave them sick and out of school for a few days. They may require hospitalization if lung inflammation restricts breathing, but generally, children bounce right back on their feet. But for those with AADC deficiency who have weak muscles and autonomic dysfunction, RSV symptoms can be life-threatening.

We nearly lost Rylae-Ann to RSV. What seemed like a progressively worsening cough ended with a weeklong hospitalization. Our daughter had a high fever, but temperature instability is also associated with her autonomic dysfunction, so we didn’t think it was serious at first.

However, on the second day, her symptoms became worse. Her fever increased. She seemed pale and had shallow breathing. She was sleeping more and looked sleepier than usual. We went to the hospital on the third day when her symptoms worsened. We entered thinking she was sick, but after a quick examination, doctors knew it was much worse.

She had a collapsed lung and pneumonia. Her lungs were severely compromised to the point that they were filled with fluid and pus. The doctors immediately worked to inflate her lung. She had to be sedated to stay inside a box known as a nebulizer. The nebulizer worked to loosen the mucus in her lungs to improve her breathing. However, her oxygen level remained low for several days.

Preventing and identifying RSV

After five days, Rylae-Ann was finally discharged from the hospital. (Photo by Richard E. Poulin III)

At the time she got sick, we had Rylae-Ann on lockdown. We didn’t want her to go out so that she’d be healthy and eligible for a clinical trial for gene therapy. So her illness didn’t come from exposure to other children. Most likely, she was infected by either my wife or me. We work at a school where we are exposed to various germs. We probably passed the virus to her during a snuggle or a kiss.

Trying to prevent RSV requires many of the same precautions we utilized to prevent COVID-19:

• Frequently wash your hands with soap and water for at least 20 seconds.
• Avoid close contact in public areas.
• Clean and disinfect surfaces and toys.
• Limit public outings.

And as the U.S. Centers for Disease Control and Prevention note, expectant mothers can get the RSV vaccine while pregnant, and babies younger than 8 months can get an RSV antibody immunization.

But sometimes prevention is easier said than done, so it’s also important to be aware of the symptoms:

• Persistent cough with wheezing or wet-sounding labored breathing
• A fever above 100 F or 38 C
• Rapid and shallow breathing or overall difficulty breathing
• More sleepy and irritable than usual
• Pale or bluish skin.

While RSV is a common viral infection, for children with AADC deficiency, it can be serious. Minimizing risk factors and being aware of the symptoms can help lessen the effects of the virus. Early recognition of RSV can help your child get prompt medical care so they can get back on the journey of making memories.

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.