Revolutionizing Respiratory Care: New Advances Are Transforming Lives for PCD Patients

When 16-year-old Christian was born, he was experiencing respiratory distress. A chest x-ray provided no insight into the cause, but did reveal that he had dextrocardia—his heart was located on the right side of his chest, instead of the left. He spent two weeks in the neonatal intensive care unit (NICU) undergoing treatment for his respiratory and breathing difficulties. Then he spent the next seven years being treated for asthma with a doctor close to home. According to his mother, Aisha, he always seemed to have a runny nose, but no illnesses that ever required a hospital stay.

When Christian was seven, the mystery began to clear. Aisha’s niece had a baby and when Aisha asked why the baby was in a NICU, she learned that he had Kartagener’s syndrome, a form of PCD in which the position of organs in the chest and abdomen are reversed. The niece’s older son also had Kartagener’s syndrome. Armed with this new knowledge, Aisha brought Christian to the pulmonology department at Connecticut Children’s for evaluation. After genetic testing and a ciliary biopsy, Christian was finally diagnosed with PCD.

Today, Christian is a busy high school senior, an aspiring architect and a top athlete. He has played football since he was six years old and hopes to play in college. He also holds his school’s record for the 400-meter dash and ran in the Connecticut state indoor track and field championships earlier this year. He has appointments with Dr. Collins every three months. But maintaining his health is a daily responsibility. “There are so many procedures to do that it’s hard to keep track of them all,” Christian said. To keep his lungs healthy, he performs airway clearance and huff coughing (a technique to move mucus from the lungs). A dose of antibiotics three times a week helps prevent infections.

“Christian is proof that, with proper treatment, PCD doesn’t have to slow you down,” said Dr. Collins. “He is also proof that without the expert care given by a PCD Foundation Clinical Research Network Center, patients with PCD can easily remain undiagnosed and not receive state-of-the-art treatment.”

Instrumental to the PCD Center’s opening was the purchase of a Nasal Nitric Oxide Analyzer, an acquisition funded by the Walden W. & Jean Young Shaw Foundation. Individuals with PCD have reduced levels of nitric oxide, a gas, in their sinus cavities. The Nasal Nitric Oxide Analyzer measures those levels using chemiluminescence and is a critical evaluation tool for a disease that is frequently misdiagnosed because it shares symptoms with asthma and other respiratory illnesses.

Nasal nitric oxide testing involves placing a small foam tube in a patient’s nostril. The patient then takes a deep breath in from the machine and blows out for ten seconds. The procedure is repeated several times with both nostrils. The test takes ten to fifteen minutes to complete, and can only be performed at specific centers like Connecticut Children’s PCD Center, one of two centers in New England able to do this specialized testing.