A COPD Patient: Her Story When Smoking Isn’t the Culprit

Chronic obstructive pulmonary disease (COPD) is associated with smoking, but not all patients are smokers. Some get the condition from a genetic roll of the dice. Lifescript talked to one such woman living with COPD... It took eight visits to four physicians over four years for Julie Knutson to get the worst news of her life. It came from a pulmonologist who blurted out, with no preamble, that she had 2-5 years to live. “She just told me to think about how to spend those years and take care of things,” Knutson says with amazement even now, eight years after absorbing the shock. “It turned my world upside down,” says the formerly fit outdoorswoman who loved hiking and hunting. The Minnesota psychotherapist, now 50, has chronic obstructive pulmonary disease (COPD), which includes conditions such as chronic bronchitis and emphysema. COPD is a common disease – mostly caused by smoking. But that's not the case with Knutson. She’s among the 1 in 6 COPD patients whose lung disorder is the result of a genetic condition called alpha-1 antitrypsin deficiency (A1AD), which usually destroys the lungs and liver, according to the Cleveland Clinic. About 3% of those diagnosed with COPD may have undetected A1AD, according to the Alpha-1 Foundation, a nonprofit organization that helps provide resources for research for a cure for Alpha-1, among other goals. In the lungs, A1AD leads to emphysema – a progressive, chronic disease that destroys air sacs in the lungs and makes it hard to breathe. But Knutson is doing well today and wants other COPD patients to know there is life after the diagnosis. “I made a conscious decision to … get into the business of living,” she says. Here’s her inspiring story about finding hope – and life – as a COPD patient... Missed Diagnosis Her symptoms first turned up 12 years ago, when her breathing became labored on a hunting trip in the Minnesota woods. “I thought it was allergies,” Knutson says. “Something didn’t feel right.” A trip to the allergist seemed to confirm her suspicion. She started using a bronchial inhaler, which reduces lung inflammation. But all wasn't well – even with treatment. She still experienced shortness of breath. And the allergy specialist didn't order follow-up tests to determine lung function at her return visit two months later. “That was the first time the ball was dropped,” Knutson says. She then went to her internist, who confirmed the allergy diagnosis and prescribed an additional inhaler. “Another missed opportunity for a correct diagnosis,” Knutson says. Four years later, Knutson got an accurate one – by accident. The Genetic Factor About the time that Knutson was suffering from untamed breathing problems, her father was diagnosed with a serious illness – cirrhosis of the liver. Knutson, learning that her father needed a liver transplant, volunteered in January 2004 to undergo testing to see if she could donate a portion of her liver. She was a perfect match. That was the good news. Then the ax came down. Knutson’s doctor found an “error” in Knutson’s blood work. Additional tests explained it: She had A1AD, like her father. The disorder is caused by mutations in a gene that's responsible for the helpful enzyme alpha-1 antitrypsin. It’s produced in the liver and released into the bloodstream to protect the lungs from a damaging enzyme called neutrophil elastase. Neutrophil elastase interferes with the process of inhaling oxygen and exhaling carbon dioxide, according to the University of Utah’s Genetic Science Learning Center. But with A1AD, the alpha-1 antitrypsin gets stuck in the liver, leaving the lungs vulnerable to emphysema. It may also damage the liver. To get the disorder, a child must inherit one abnormal alpha-1 gene from each parent. Knutson’s mother is a carrier with no symptoms, and her father is a carrier with symptoms. (He received a liver transplant in December 2004, at 70, and quickly improved.) Her brother inherited healthy genes from both parents and is not an alpha-1 carrier. Suddenly a COPD Patient Knutson was told she had full-blown emphysema. “The elastase was chewing up my lung tissue,” she says. Knutson’s lungs were operating at 38% capacity, down from 68% when she was misdiagnosed with allergy problems four years earlier, she says. “If it had been caught at the beginning, I could have started treatment much sooner," slowing the decline in lung capacity, she says. Treating COPD Since her diagnosis, Knutson has maintained lung function at 34%-36% of capacity. She has weekly 90-minute medical treatments, called augmentation therapy. That involves injecting donated alpha-1 antitrypsin into her bloodstream (via blood transfusion), which slows, but doesn’t cure, a COPD patient’s progression. She continues to use several asthma medicines, mostly inhalers, to control her coughing and other symptoms. But coping with her family's and her own health problems triggered by A1AD wasn’t only a physical blow; it also hurt her emotionally. Knutson fell into a severe 2-year-long depression. “The depression snuck up on me,” she says. “I’m fiercely independent – I’ve always been – and didn’t realize how low I’d sunk.” Her house looked storm-tossed. Laundry stacked up, unwashed. Her bed was always rumpled. Her declining health forced her to quit her job. “I’m a really outgoing person and suddenly had to be home all the time," Knutson says. "I didn’t know what to do with myself.” After her boyfriend told her he was worried about her emotional state, she decided to regain control of her life. Seeking Help When Knutson was diagnosed with A1AD, she says she was in denial for a long time. “I went through a grieving process,” Knutson says. “And I had to get past that five-year [prognosis] mark, seeing that I was a survivor, to truly get to the point where I realized I’d be around for a while.” Reaching out to supportive family members helped. “My parents have been there for me every single step of the way,” Knutson says. But she had a hard time finding others with her rare condition, so in autumn 2004, Knutson established a support group for those with A1AD, called Alpha Loons of Minnesota (the common loon is Minnesota’s state bird). The nonprofit provides support, education and resources to A1AD patients and their families. She also reached out to other A1AD patients through social-networking groups such as Facebook and the Alpha-1 Foundation. Living With COPD As a longtime COPD patient, Knutson knows the ins and outs of dealing with this challenging disease. Here are her top 10 coping mechanisms: Do augmentation therapy in the evenings because “it makes you tired,” affecting daytime energy. “Hibernate” during cold-and-flu season. Stock up on supplies before winter so you “don’t have to wait in line at [stores].” It’s best not to linger among sick, coughing customers. Don’t minimize a cough or stuffy nose. Seek medical help before those common viruses morph into lung-destroying infections. Live a healthy lifestyle: Don’t smoke, limit alcohol consumption, and wash your hands frequently to avoid germ contamination. “When someone comes to my home, no matter the time of year, they have to wash their hands with anti-bacterial soap before touching anything.” At the holidays, such as Christmas, ask family members to inform you if they’re sick. Knutson usually stays home to avoid exposure if they are. Find a doctor who knows about A1AD. Develop a team approach with that doctor, so you're an active member of the team. Enjoy a social life and live as normally as you can. She goes “skiing” with friends, observing them from the chalet. “You have to put yourself out there to get back with the living,” she says. Find a support system. “You gain useful information from them” and prop each other up. Exercise, but on your terms. “I went to a fitness place in my town and practically died from it!” The regimen was too demanding. She rocks out with Wii Fit games for an hour every other day. Her Labradoodle, Topi, provides not only companionship, but also a powerful walking incentive. Watch your diet: Avoid gassy foods, like soda, which create bloat and pressure on the lungs. Eat healthy foods and keep your weight down if possible. Finally, Knutson advises new COPD patients to avoid panicking. “Do research about your disease,” she says. “Learn to live with it and the changes that come with COPD, but do it one day at a time. It’s OK to be scared. But know you won’t die any time soon.” For more information, visit our COPD Health Center. How Much Do You Know About COPD? Chronic obstructive pulmonary disease (COPD) is on the rise, according to the National Institutes of Health. More than 12 million people in the U.S. are currently diagnosed with it, and another 12 million may have it but don’t know.