This Rare Disease Day, we are highlighting primary ciliary dyskinesia (PCD), a genetic disease that affects 12,000 to 17,000 people in the United States. People with primary ciliary dyskinesia have mutations in genes that control the structure and function of cilia, which are the tiny hair-like appendages within the airways of the respiratory system. This makes it difficult to clear inhaled particles and bacteria and can lead to recurring infections in the sinuses, ears and lungs.

What is PCD?

PCD is so rare because as a recessive genetic disease, both parents must contribute the same mutated gene for someone to be born with PCD. Initial symptoms usually appear very early on in life. As an infant, someone with PCD may show respiratory distress as a newborn and could be placed on oxygen for several days.

As they grow older, someone with PCD is likely to experience chronic cough and nasal congestion, recurring cold, pneumonia and chronic ear infections.

Despite showing symptoms at an early age, PCD can be very difficult to diagnose because there is no specific test for it. As such, diagnosis for PCD is usually done through process of elimination. To rule out any other diseases, a doctor may run a series of tests such as blood tests, sputum tests, breathing tests or imaging tests, such as a CT scan or chest X-ray.

“PCD can be hard to diagnose because some of the symptoms in PCD are common in children even if they don’t have PCD,” says Payel Gupta, MD. “For example, many children suffer from chronic ear infections, chronic cough and runny nose. These symptoms can be caused by other more common disorders like allergies and asthma for example and therefore the diagnosis of PCD may be missed for some time,” she says.

Dr. Gupta adds, “the severity of the condition can also vary from person to person which can also delay the diagnosis. If the disease is mild, it may not show up until the teen or adult years. Also, the disease may be confused with another condition, such as cystic fibrosis.”

Once other diseases are eliminated, the most helpful in diagnosing PCD is a genetic test. This genetic test can determine whether someone has mutated genes linked to the disease. They can also use an electron microscope to look at samples of airway cilia to see how they are functioning.

Living with PCD

PCD is a progressive disease, meaning it gets worse over time, and has no cure. Thankfully for most patients, the progression of the disease is slow and symptoms can be managed.

Treatment and management for PCD focuses on improving lung function and limiting disease progression. Some treatments include antibiotics for lung or sinus infections, airway clearing techniques and chest physical therapy. Surgery may be required, and in some cases a lung transplant may be considered.

Another way to manage PCD symptoms is through a healthy lifestyle. This includes keeping up to date with vaccinations, eating a healthy diet, regular exercise and getting enough sleep. While the severity of the disease will vary from person to person, those living with PCD should work closely with their doctor to manage and treat symptoms.

Dr. Gupta says “Working closely with your doctors is important because the disease can affect people in various ways. Therefore, it is important to have a plan on how to monitor your health with this condition. Understanding the condition and staying educated on how it can affect your body is also important so you can tell your doctors if you are experiencing any symptoms that may need attention.”

Dr. Gupta also encourages those with PCD to “seek care early if you don’t feel well” in order to make sure any infection is treated as quickly as possible and reminds those with PCD to “get all of the necessary vaccinations because they can lower risk of infection.”

Because PCD is a chronic disease, and chronic diseases are stressful, it is important for people living with the disease to find support through a mental health professional and/or a support group. You can find support through the American Lung Association’s Patient & Caregiver Network or by joining our Living with Lung Disease online community.

Research and Clinical Trials

Though PCD has no cure and no official treatment, researchers are working to discover new ways to treat the disease.

A clinical trial called CLEAN-PCD is currently underway to explore the effectiveness of a drug that could be inhaled to improve airway hydration and aid with clearance of mucus.

Because PCD makes it difficult for those with the disease to clear their airways, which can lead to infection, this treatment would reduce the “vicious cycle” of infection faced by PCD patients.

Currently, there are 35 centers in 8 countries participating in this trial. To learn more about the trial, visit the PCD Foundation.

And, to learn more about primary ciliary dyskinesia (PCD), visit Lung.org/pcd.

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