Imagine this: Your 18-month-old daughter has a pediatric pulmonary disease that stumps most pediatric pulmonologists.
Eli and Ashley Kean, Coatesville, Ind., don’t have to imagine. Their daughter Scarlett, diagnosed in August 2015, was born with primary ciliary dyskinesia (PCD.) Her body has a severely reduced ability to move secretions through the lungs. The cilia—slender, microscopic hair-like structures that sweep out contaminants from the respiratory tract—simply don’t work.
Scarlett is an effervescent little girl who smiles easily, but breathing easily takes a fair amount of work. Her daily routine includes twice-per-day chest physiotherapy (gently pounding on the chest for 20 minutes) and nebulized antibiotics.
“Before she was diagnosed, she was constantly sick and exhausted,” said Ashley. “Ear infection after ear infection, and constant congestion.” Already having experienced the normal round of newborn and toddler woes with her older daughter Willow, 3, Ashley sensed what was happening with Scarlett’s little body was different.
“Her pediatrician sent her for tests for PCD and told us time and again that this probably wasn’t what Scarlett had,” says Eli. So we were really surprised at the diagnosis, but at the same time, relieved to know there were specialists in PCD right at Riley.”
The PCD center, run by Stephanie Davis, M.D., Section Director of Pediatric Pulmonology, Allergy and Sleep Medicine at Riley Hospital for Children at Indiana University Health, is one of the few centers of its kind in the U.S. About 20 patients are seen here on a regular basis for the rare disease, which affects 1 in every 15,000 people. “These children cough every single day from birth and have chronic nasal congestion,” says Dr. Davis.
Scarlett will have this disease the rest of her life, but research is being done at Riley to help improve diagnosis and treatments for these children. Currently, there are three PCD research studies being conducted at Riley. Two of them are multi-center studies, with research being done at other hospitals in the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC), a network of nine North American centers. “We are trying to understand the genetic underpinnings of the disease,” explains Dr. Davis. “We know there are more than 30 PCD-causing genes. We have to understand these better.”
“The initial diagnosis was a shock, of course,” says Ashley. “But we realized that Scarlett is really a pioneer. We want to do anything we can to help create awareness of and support for research about this disease.”