I'm a Nonsmoker, But I Have Emphysema Due to a Rare Genetic Condition
Bob Campbell, 64, has struggled with lung problems all his life. He had severe asthma as a child, frea quent lung infections as a young man, and diagnosis of chronic obstructive pulmonary disease (COPD) at a very early agehis late 20s. But it wasn't until this former newspaper reporter and editor from Prince Edward Island, Canada, was 55 that he found he had a genetic condition known as alpha-1 antitrypsin (AAT) deficiency. AAT is a protein that protects the lungs from diseases like emphysema, which is a type of COPD. Such a delayed diagnosis is not unusual: Fewer than 1 in 10 people with AAT deficiency know they have the condition. Today Campbell lives in Coral Gables, Fla., not far from the Alpha-1 Foundation headquarters, where he works as the communications manager and tries to increase awareness of this rare disorder. According to the foundation, about 100,000 Americans have a genetic AAT deficiency.
Id had severe asthma since infancy, but as a child I never told anyone. I didnt want to be treated like a baby because of my asthma, and at school I didnt want to be perceived as a weakling. In fact, I never used my inhalers in public as a young man; asthma made me stand out in a way that I thought was undesirable.
Unfortunately, I inhaled an awful lot of secondhand smoke as a kid. My father and my uncles would get together to play cards and smoke the entire time. Although my mother discouraged them from smoking around me as much as possible due to my asthma, I still ended up with a significant exposure to secondhand smoke.
My asthma seemed to improve as I reached adulthood, but I was still struggling with pneumonia almost once a year. I also had a lot of chest colds. I had to treat my chest as if it were made of glass, protecting it from infections at all costs.
Sometime between the ages of 25 and 30, one of the many pulmonary specialists I saw throughout my life told me I had emphysema, which is a type of chronic obstructive pulmonary disease (COPD). COPD is a serious progressive disorder that makes it very difficult to breathe.
COPD is a rare diagnosis for people in their 20s, particularly for nonsmokers. Id never smoked in my life.
An allergist diagnosed me
Despite frequent bouts of pneumonia, the COPD didnt come up again until I went to see an allergist at age 55. The allergist found it strange that my X-ray showed signs of emphysema even though Id never smoked. He wanted to screen me for a rare genetic condition. The blood test showed I have alpha-1 antitrypsin (AAT) deficiency. That was undoubtedly the explanation for my severe COPD. Curiously, even after all the doctors Id seen since my 20s, he was the first to mention a genetic cause, and he was an allergist!
I was amused by the irony of being diagnosed with this rare condition at a time when I felt healthier than ever. At that point in my life, it was very rare for me to have the severe asthma attacks that sent me to the hospital when I was younger. I was frequently sick, but the life-threatening emergencies had gone away.
The diagnosis was also a relief. I finally had answers to many of my questions, like “Why would a guy whos never smoked have so much lung damage?” I learned that the secondhand smoke I inhaled was more than likely a major cause of my COPD. Although anybody can be damaged by secondhand smoke, the AAT deficiency made me extremely vulnerable.
Both my children are carriers
To be an alpha like I am, you need to have a defective gene from each of your parents. My diagnosis is SZ, meaning I have a more severe Z gene (from my mother almost certainly), and an S gene, which is not as severe (from my father). None of my relatives have been officially diagnosed with AAT deficiency, but I suspect some have had it. My mothers family in Canada was filled with people who were severely asthmatic and did not have access to very good medical care. I had an aunt who died at 37 due to what was diagnosed as “severe asthma” at the time.
I passed the Z gene to my children, so both my kids are carriers. Luckily, both of them are healthy because they also have the normal gene from my wife. They could still pass the defective gene to their own children, though.
Today Im more open about my condition than I was growing up. People often overreact, in the sense that theyll try to help me do things Im perfectly capable of doing on my own. For example, theyll move a heavy chair for me, thinking I shouldnt exert myself. I cant jog anymore, but Ive been a regular walker for a very long time. I love to visit art shows, and I can walk for miles with ease among the displays. I also cant play sports anymore, but a lot of guys my age cant play sports!
To treat my COPD, I take Advair and another drug, Spiriva. In addition, Ive been treating my AAT deficiency with augmentation therapy since 2000. These are weekly infusions of the AAT protein that is collected from healthy donors. It's expensive, but it replaces the AAT that my body doesnt make on its own.
Im still highly susceptible to lung infections and have to be extra careful. After a bad cold, the average person may be back to normal in a week; Ill be drained for a month. Exacerbations of my COPD, which can be life-threatening emergencies that require a trip to the hospital, are never as bad as they used to be. I havent needed a hospital visit since before I was diagnosed with the AAT deficiency in 2000.
AAT deficiency is not a death sentence
Im not the typical alpha. Most people are frightened, shocked, or depressed by the diagnosis; I was amused. I always knew my lungs were in bad shapeat least now I can do something about it.
However, the diagnosis can feel like a death sentence because there isnt a cure. Doctors too often make disgraceful statements based on little information and a lot of ignorance. Many alphas have told me about doctors saying frightening things like, “I really dont know a lot about this genetic condition, but I can tell you that its usually fatal and you probably have about five years to live.”
There is no research supporting the five-years number. Twenty-year-old research suggests that half of people with severe AAT deficiency wont live longer than 54. But I know a lot of people diagnosed in their 40s and 50s who are older than 54.
Genetic COPD is enormously underdiagnosed because people dont know the facts. Even the most obvious casespeople like me who have severe COPD but never smokedoften arent tested. If they dont get tested, they cant be properly treated.
There may not be a typical alpha. If Im atypical, its not because it took me a long time to get diagnosed; its because Im healthier than most. Im remarkably healthy for a 64-year-old who has had problems all his life. I had the great fortune of doing quite well by the time I got diagnosed. I am very, very fortunate.