Chapel Hill, N.C. — Although as many as 25,000 people in the United States live every day with primary ciliary dyskinesia, a chronic lung problem, only as estimated 10 percent are properly diagnosed.
That discrepancy prevents doctors from prescribing correct care, and in some cases, leads to permanent lung damage or even death for the patients who unknowingly live with the autosomal recessive disorder.
For people in the Triangle, the chances of being diagnosed early – a key to proper treatment – are higher thanks to UNC Hospitals, one of the country's premiere research centers for PCD.
Patricia Hash, 13, was diagnosed with PCD after she was born by emergency C-section.
"They did not notice any problems until she was several hours old and she started going into distress," Julia Hash, Patricia's mother, said.
That distress, which can include chronic ear aches, nasal congestion and coughing for most patients, isn't often treatable with antibiotics. Dr. Margaret Leigh, a pediatric pulmonologist at UNC, said PCD is different because cilia, the microscopic hair-like structures that line the airways, become impaired, leading to chronic infections.
"The cilia don't work to help sweep secretions off of the lungs," she said.
Thanks to early diagnosis, Patricia Hash was able to receive effective care and be closely monitored. Doctors treated her symptoms more aggressively and for a longer period of time.
Similar to cystic fibrosis, doctors recommend that patients use coughing and exercise to help clear airways.
Despite having the knowledge of how to treat PCD symptoms, there aren't any evidence-based medicines available because so few people are diagnosed. Researchers at UNC have been working to discover whether the genes that cause PCD can be impacted by medicine, similar to other genetic disorders.