|Laura's Story: A Lifetime of PCD|
Laura Slaney has been dealing with the consequences of primary ciliary dyskinesia (PCD) her entire life. Diagnosed with Kartagener syndrome (a subset of PCD characterized by situs inversus) at age six, Laura brings the valuable insight of lifelong experience to the PCD patient group.
As an infant, Laura was plagued by constant nasal drainage, sore throats and ear infections. Early treatment and intervention focused on ear and sinus problems, with myringotomy tubes, antral window placement, frequent sinus suctioning, removal of the tonsils and adenoids and lots of antibiotic therapy. At age six, an allergist noted Laura's cough and her parents realized the cough had been present since birth. At that point, the family was referred to St. Louis Children's Hospital, where a diagnosis of Kartagener syndrome was made. Laura's parents were told she would be lucky to live to 12 years of age.
Laura continued to have frequent upper and lower respiratory infections, complicated by allergies. At age 10, a right lower lobectomy was performed due to severe bronchiectasis Laura continued to be active, but noticed that she did not have the stamina of other children and sometimes had to sit on the sidelines rather than participate. She was started on gamma globulin therapy to boost her immune system, but didn't notice much response. Her physicians suggested that the family move to Arizona from St. Louis to minimize the impact of allergies on her disease and eventually the family did move west, settling in California. Laura remembers getting allergy relief for about two years, then reverting back to similar allergy problems.
It is not unusual for people with PCD to get some relief in the late adolescent and early adult years, the so-called "Cinderella period," and Laura experienced some diminishment of her symptoms between ages 13 and 35. She was not healthy per se, but was sick less frequently and experienced fewer infections requiring hospitalization and IV antibiotic therapy. She focused on exercise, pursuing jogging, hiking, backpacking and swimming.
Things changed dramatically when Laura turned 35. She had enrolled in a Pulmozyme® study and was forced to withdraw because of hemoptysis (blood in the sputum). She had numerous emergency room visits and narrowly avoided being placed on a ventilator. Cultures revealed that she had contracted Mycobacterium avium complex (MAC). She battled on and off with treatment for atypical mycobacterium for the next decade and also survived breast cancer during this time. With declining pulmonary function, she finally decided it was time to go on disability at age 45.
Even with the appropriate diagnosis, the role ciliary dysfunction played in causing Laura's symptoms was not fully understood until she was an adult. Contact with other patients through an internet forum and through the PCD Foundation helped her to find the answers she was looking for. That and her