12 Year Diagnosis: One Girl’s Primary Ciliary Dyskinesia Story

Eva Shea wondered about her daughter. Mimi went to preschool like most children, and seemed otherwise healthy. She had, however, a peculiar, chronic cough. It sounded as though Mimi smoked several packs of cigarettes per day – which she did not. Doctors diagnosed her with bronchiectasis, and looked for cystic fibrosis, but without much success. Though no one could figure it out at first, Mimi had primary ciliary dyskinesia. Keep reading to learn more about her story, and follow along at the original source for additional details.

For years, Eva Shea took her daughter Mimi to doctors and asked about her mysterious wet cough. Pediatricians and other specialists all throughout Northern Virginia told her it wasn’t much to worry about. A few expressed mild concern, but mostly they reassured Mimi’s mother. Children get respiratory infections all the time. Besides, it doesn’t seem to bother her. Nothing shows up on tests. Eva Shea got used to hearing these kinds of things.

On the other hand, Eva was an experienced mother, with two older daughters. She had seen asthma before, since it affected one of her daughters, and Mimi’s symptoms still left her with a gut feeling that something bigger was being overlooked.

It wasn’t until Mimi turned 12 that a doctor identified her condition. Other specialists overlooked the important details, but this one pieced it together based on crucial information from Mimi’s medical history.

Mimi’s breathing difficulties began almost immediately after birth.

After a c-section delivery doctors rushed Mimi to the neonatal intensive care unit. Her skin looked the trademark blue of cyanosis. Mimi was in respiratory distress and she was in the hospital for nine days. Doctors sent three different medications, a machine monitor for her breathing, and diagnosed her with severe reflux.

By age two, Mimi outgrew the reflux. A different problem, however, persisted. Mimi seemed always to be congested.

Despite regular infections, Mimi’s pediatrician expressed no concern. Mimi received her first set of ear tubes at age four due to recurring ear infections and another set a year later. An ear, nose, and throat specialist extracted her adenoids to prevent further infection.

Mimi’s father, Robert, notes that none of this really made a difference. Mimi got sick constantly. Simple colds became serious. Often sinus infections followed.

At her eight-year-old check up, Mimi’s doctor became concerned about her congestion.

He recommended a pediatric allergist which led to a full work-up. These tests were still inconclusive. Mimi expressed mild allergies to dust and cockroaches. The allergist diagnosed chronic sinusitis.

In 2013 a new pediatrician detected alarming crackles in Mimi’s lungs.

She recommended an x-ray and testing for cystic fibrosis. Both tests were negative. In 2014 Mimi turned 10 and received a recommendation to another ENT specialist. The specialist recommended endoscopic sinus surgery. It didn’t help.

“Every time I would go to one of these specialists,” Mimi’s mother recalls, “I would think, ‘Okay, this is going to work!’ ” and after every disappointment, “I kept thinking, ‘What the hell — why can’t this get fixed?’ It was very frustrating.”

After failing to find a solution, the ENT referred Mimi and her family to a pediatric immunologist. A high-resolution CT scan revealed evidence of bronchietasis. From there Mimi went on to a pediatric pulmonologist.

After tracing Mimi’s medical history, this fifth specialist, Dr. Sunil Kapoor, knew with confidence Mimi had primary ciliary dyskinesia (PCD).

Mimi does well now and manages her disease with special equipment and routines. She began physical therapy immediately after her diagnosis with an oscillation vest to help thin the mucous in her lungs. Nasal saline treatment and antibiotics also help with her condition. Dr. Kapoor reports that Mimi handles her diagnosis very well. Mimi’s parents continue to try and make her life as normal as possible.

Fortunately Mimi’s condition is not severe. Dr. Kapoor, however suspects some of the damage done is now irreversible. Had the disease been caught earlier, that could have been avoided. Mimi now receives effective treatment, and things seem to be going well. As per family tradition, Mimi even took a trip to South Africa with her grandparents on her 13th birthday.

Still, although the treatment is helping, it is unfortunate that Mimi had to wait so long for effective care. Awareness of PCD, and an earlier diagnosis could have produced a better outcome.

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