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 age—his 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.

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As told to: Sarah Klein
Last Updated: April 01, 2009

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