Isabelle Zoerb, 13, and Elliot Fox, 5, both have primary ciliary dyskinesia (PCD), a rare genetic condition that prevents bacteria from clearing the lungs, sinuses, nose and ears. They are patients at Seattle Children’s, which is the only Pacific Northwest PCD referral center. Dr. Margaret Rosenfeld, an attending physician and researcher at Seattle Children’s, says parents often go through a “diagnostic odyssey” before their child is diagnosed. Most people with PCD have unexplained neonatal respiratory distress, requiring oxygen or breathing support. They generally develop chronic nasal drainage and chronic wet cough within the first six months of life. And it’s a progressive disorder, worsening with time.

“We hope to increase awareness of PCD, which is highly underdiagnosed, so doctors across different fields can identify children with PCD and help them,” said Dr. BreAnna Kinghorn, a researcher at Seattle Children’s.

Rosenfeld researches PCD as the Seattle Children’s site investigator for the Genetic Disorders of Mucociliary Clearance Consortium, which recently received a $7.5 million grant from the National Heart, Lung and Blood Institute. “We are hoping to make diagnosing PCD more streamlined so that we can hold clinical trials to develop new therapies for people with the condition,” Rosenfeld said. “We are hopeful that more effective therapies for PCD will exist in the future.”

Read the article: Families Raise Awareness of Rare, Underdiagnosed Lung Disease – On the Pulse