Primary ciliary dyskinesia is a rare disease that affects the tiny hair-like structures (cilia) that line the airways. According to the National Heart, Lung, and Blood Institute, primary ciliary dyskinesia is an inherited disease that affects approximately 10,000-30,000 people, typically diagnosed as children. Primary ciliary dyskinesia causes frequent respiratory infections starting at a very early age that result in lifelong, progressive lung, sinus, and ear disease. People with this inherited disease benefit from early diagnosis and treatment to limit permanent damage.
Since the disease is rare, it can be hard to recognize and is often misdiagnosed – being mistaken for asthma, allergies, or bronchitis. This makes the affected person more prone to infections in the ears, sinuses, and the lungs, where cilia are most abundant.
Cilia helps remove mucus, germs, and other foreign particles from the lungs so they can be coughed or sneezed out. People born with primary ciliary dyskinesia have defects in their cilia that make them unable to perform properly, making it hard for them to clear inhaled particles and bacteria from the lung.
Fortunately, MemorialCare Miller Children’s & Women’s Hospital Long Beach has a Primary Ciliary Dyskinesia Center that can diagnose and treat patients which in turn can start treatment sooner. For children suspected of having primary ciliary dyskinesia, the Primary Ciliary Dyskinesia Center can perform a simple breath assessment to rule out or diagnose the disease using the latest technology, called a nitric oxide analyzer.
“It is extremely important that we are able to diagnose children with the nitric oxide analyzer and the breath test,” says Bugsu Ovunc, M.D., pediatric pulmonologist, Children’s Pulmonary Institute, MemorialCare Miller Children’s & Women’s Hospital Long Beach. “Without a diagnosis, we cannot properly treat primary ciliary dyskinesia, and patients may suffer their entire lives with repeat infections.”
With only a limited number of centers that have extensive experience in the diagnosis and management of primary ciliary dyskinesia, Miller Children’s & Women’s makes care for children with primary ciliary dyskinesia possible for those even beyond its local community. The Primary Ciliary Dyskinesia Center at Miller Children’s & Women’s is the only one of its kind in Southern California and only one in four in the Western United States. Because of this, the Center cares for children from Arizona, Nevada, Utah, and New Mexico.
“We are very fortunate to have been able to set up a Primary Ciliary Dyskinesia Center at Miller Children’s & Women’s,” says Dr. Ovunc. “The Center is a unique resource for not only the surrounding community, but even further caring for patients from other states that have limited specialized pediatric health care resources. We are dedicated to helping children affected by primary ciliary dyskinesia to manage their symptoms and to live happier, healthier lives.”