Craig notes that medical guidelines recommend that people with an asthma diagnosis who are not responding to treatment should be tested for alpha-1 deficiency. A methocholine challenge, the test McCathern sought in the mid-1990s, would probably have accelerated the diagnosis because it would have revealed that she did not have asthma.
By the time McCathern received her diagnosis, she was battling emphysema and bronchiectasis, a condition that results from injury to the airways and impedes the ability to clear mucus. “Her lung disease is advanced,” Craig observed, “but not to the point that she can’t carry on a normal life.”
McCathern began receiving weekly infusions of Prolastin almost immediately. Close relatives, including her daughter, were tested; some were found to have inherited one damaged gene, but, she said, “I’m the only one that has both.”
For several years, McCathern has participated in studies of the disease. As a coordinator for AlphaNet, a national support group, she speaks with other patients, many of them new to the diagnosis.
McCathern says she wishes she had known what was wrong much earlier, because treatment could have blunted the severity of her illness. “I could have been on medication in 1988, not 2004,” she said.“Just knowing that you have it, and taking the medication, can really make a difference.”
But McCathern remains philosophical, because earlier diagnosis would have ended her satisfying military career sooner. “I did have all those years,” she said, “and that was kind of nice, too.”
Have a medical mystery that’s been solved? E-mail firstname.lastname@example.org.