From the moment Mimi Shea was born in August 2004 at Inova Alexandria Hospital, she had had trouble breathing. Delivered by Caesarean section, she was whisked to the neonatal intensive care unit because her skin had a bluish tinge indicative of cyanosis and she was in respiratory distress. After nine days in the hospital, she was sent home with three medicines, a machine to monitor her breathing and a diagnosis of severe reflux.
Mimi had outgrown the reflux. But her mother, Eva Shea, noticed that she always seemed congested. The pediatrician wasn’t concerned even though she had frequent respiratory infections. That wasn’t surprising in a young child with two older siblings.
None of the procedures made a difference.
Shea, who also has two older daughters, one of whom has asthma, said she “always had a nagging feeling that something was not right.”
Mimi then saw a series of specialists.
• At age 8, she saw a pediatric allergist. A full-work up was unrevealing.
• She was treated with a 60-day course of steroids to reduce inflammation and antibiotics to eradicate infection. She still showed persistent sinusitis.
• In 2013, a new pediatrician recommended that Mimi get a lung X-ray to check for an obstruction. She also urged that Mimi be tested for cystic fibrosis, a genetic disease that causes persistent lung infections. Both tests were negative. The Sheas were particularly relieved to learn that Mimi did not have cystic fibrosis, even though they were no closer to an answer.
• When Mimi turned 10, she saw an ENT specialist who recommended endoscopic sinus surgery. Mimi underwent the outpatient surgery in October 2015. The outcome was depressingly familiar: Her congestion and cough remained.
In 2016, a new specialist weighed in. He zeroed in on a key and largely overlooked aspect of her medical history. Then he told Shea he was virtually certain what had caused Mimi’s lifelong respiratory problems. Sophisticated testing confirmed it.
After 15 minutes of Shea recounting everything, pediatric pulmonologist Sunil Kapoor, section chief of pulmonology at Inova Children’s Hospital, asked how Mimi’s birth was.
Shea remembers Kapoor telling her he knew what was wrong.
“She hit all the boxes,” he recalled.
Mimi had a rare inherited disease called primary ciliary dyskinesia, or PCD, which is believed to affect about 1 in 15,000 Americans. Among the telltale symptoms: a persistent year-round wet cough, nasal congestion and frequent respiratory infections. Mimi’s breathing problems at birth were a key indicator, as was bronchiectasis. About 50 percent of children with PCD have it.
Sometimes mistaken for cystic fibrosis, PCD affects the hairlike structures called cilia that line the airways, reproductive tract and other organs. When cilia, which move like waves, are damaged, they are unable to effectively remove mucus and bacteria from the airways. That can trigger infections in the lungs, sinuses and ears. PCD results from faulty genes inherited from both parents. Carriers typically show no symptoms; Mimi’s case is the first in her family.
PCD ranges in severity; Mimi’s case is considered fairly mild. The disorder can be hard to diagnose because it mimics common, less-severe conditions such as chronic sinusitis. A definitive diagnosis involves complex tests including a nasal biopsy or genetic testing.
Mimi immediately began physical therapy for her chest with an oscillation vest that helps to thin mucus, along with nasal saline treatments and periodic doses of antibiotics.
“Once we made this diagnosis, her life was never going to be the same,” Kapoor said.
Shea said she and her family are still coming to grips with the implications. PCD is not curable and could impair Mimi’s fertility, because damaged cilia affect the fallopian tubes.
For a teenager, the disease can be a particular challenge. Mimi’s twice-daily regimen takes more than an hour a day.
“You live with the disease rather than the disease ruling what you do,” Kapoor said.
Although PCD is rare, the pulmonologist noted that it remains underdiagnosed.
“When you have a pattern of chronic wet cough that doesn’t seem to get better no matter what you do, that’s when you want to start” considering PCD, he said.
Had Mimi been diagnosed earlier, Kapoor suspects, some of the damage to her lungs might have been avoided.