Like a typical 13-year-old, Isabelle Zoerb plays volleyball and tap dances. She also regularly uses an inhaler, takes antibiotics to minimize lung inflammation and wears a therapy vest that vibrates to help clear her lungs. A device in her chest provides intravenous medication when needed.
This is because Isabelle has primary ciliary dyskinesia (PCD), a rare genetic condition. Cilia are tiny hair-like cells in airways that beat in a coordinated way that clear out germs, mucous and particulates like dust from the respiratory tract. In people with PCD, cilia do not beat properly, which prevents bacteria from clearing the lungs, sinuses, nose and ears.
When Caroline Zoerb adopted Isabelle from China as a toddler, Isabelle’s organs were reversed like a mirror image. She had been born with a hole in her heart and was constantly sick. Seeking answers, the family met Dr. Margaret Rosenfeld, an attending physician and researcher at Seattle Children’s, who thought she might have PCD based on her symptoms.
Seattle Children’s is the only PCD referral center in the Pacific Northwest, with patients coming from Wyoming, Idaho, Oregon, Alaska and Montana. Providers see patients for regular follow-ups to make sure their needs are being met and they are responding to their therapies.
“We always seem to make our way to Seattle Children’s because they have the expertise to help someone with such a rare disease,” Zoerb said. Read full post »