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Former
State Patrol Officer, Misdiagnosed for Years, Had Little-Known Lung
Disease
Family Urges Testing for People Experiencing Similar Symptoms. By Kari Neumeyer The Olympian, Lacey Section Thursday, November 25, 2004 The anti-inflammatory drug Prednisone was pretty effective in treating Loyde Mattern's recent lung infection. "It's a really good drug," said Mattern, 66. "But it makes you want to eat red meat raw." The laughter that followed that statement turned into a coughing fit, temporarily drowning out the hiss of the oxygen tubes in Mattern's nose. The former Washington State Patrol sergeant is mostly dependent on oxygen now, 22 years after he first started experiencing shortness of breath. At the time, doctors thought he had asthma. Doctors later said he had emphysema, a chronic obstructive pulmonary disease. When they learned he had smoked for about 20 years, although he quit in 1977, doctors assumed his illness was cigarette-related. During a gall bladder surgery last summer, doctors noticed spots on Mattern's liver, indicating cirrhosis. His daughter, gastroenterology nurse Kelly Auvinen, asked the doctors at work how that could be. Her father didn't have hepatitis nor was he an alcoholic, so why did he have cirrhosis of the liver? One of the doctors mentioned casually that emphysema and cirrhosis both occur with Alpha-1 antitrypsin deficiency, a genetic condition that can lead to lung disease. Auvinen, now 41, had never heard of the disease, but when she researched it online, it was clear to her that's what her father had. An abnormal gene About 5,000 people in the United States have been diagnosed with the deficiency, but the disease often is undiagnosed or misdiagnosed, according to the Alpha-1 Foundation. The foundation estimates that 100,000 Americans have the deficiency and 25 million are carriers of the abnormal gene that causes it. It's more common among people of Scandinavian descent, but the deficiency is seen in all ethnicities. An estimated one in 2,500 Americans has it, the same occurrence as cystic fibrosis. The disease can be misdiagnosed as post-nasal drip, sinusitis or reflux when the primary symptom is a persistent or intermittent cough, Auvinen said. When a patient suffers from shortness of breath, doctors often blame asthma or emphysema, she said. As many as 95 percent of people with severe Alpha-1 deficiency might not have been diagnosed, she added. A $65 blood test revealed that Mattern has the deficiency, which meant both of his parents were carriers. Carriers also have an increased risk of suffering from lung or liver disease. Cigarette and alcohol consumption heightens the risk. The World Health Organization, American Thoracic Society and European Respiratory Society recommend that anyone with a chronic obstructive pulmonary disease be tested for Alpha-1 deficiency. Not everyone who has the deficiency develops emphysema. "It makes us want to run up to everyone on oxygen and ask if they've been tested for Alpha-1," Auvinen said. Although she knows she is at least a carrier of the Alpha-1 deficiency gene, Auvinen is awaiting the results of an anonymous test through the Medical University of South Carolina. "A lot of people don't want it noted in their medical record," she said. It is important that people know whether they are at risk, so they can be treated for the deficiency at the first sign of shortness of breath, she said. Her teenage children understand that they might be carriers of the disease, and she's taught them that alcohol and cigarette use are especially dangerous for them "They know why Grandpa has trouble breathing," she said. They also have been told they shouldn't date a smoker or take a job in a bar or anywhere they might be exposed to respiratory irritants, she said. If Mattern had been diagnosed and treated for Alpha-1 when he first had shortness of breath, he likely wouldn't be dependent on oxygen now. Slowing deterioration Treatment consists of weekly, hour-long intravenous medication to replace the Alpha-1 antitrypsin his body lacks. The treatment slows the deterioration of the lungs. Healthy livers produce the Alpha-1 protein, which protects the lungs by blocking the effects of the bacteria-killing enzyme elastase. Without the protein to destroy the enzyme once the bacteria is gone, elastase can destroy the air sacs of the lungs, according to the National Jewish Medical and Research Center. Mattern has had 13 weekly intravenous treatments. He has a catheter in his left arm, which he wraps with burn gauze between treatments so it doesn't snag on anything. Until recently, Mattern worked part time at Oddfellows Memorial Park in Tumwater. He took a small oxygen bottle with him but could do minimal tasks without it. "If I don't have to move around, I could stay three or four hours," he said. "I can't go 100, 150 steps without oxygen," he added, sitting by a window in his house, a plastic tube stretching from his nose across the floor of the living room. "I can only go from here to my truck." Inside his truck, he takes oxygen and catches his breath, Auvinen said. "He does it in steps," she said. "He's learned to pace himself." Mattern enjoys fishing and traveling with his wife of 45 years, Ronalee, in their motor home. He said he wishes Medicare would pay for him to get a motorized scooter so he could be more independent. Medicare doesn't cover wheelchairs or scooters for people with pulmonary conditions, he said, to encourage them to get more exercise. "We're going to just get one and pay for it," Ronalee said. It's difficult for Mattern to carry around a heavy oxygen bottle, and he'd rather not use it in public anyway. "All of a sudden, you're on oxygen and have to walk into a store with this stupid thing on," he said. "When he's out in public, he tries harder," Auvinen said. "He's doing really well today. There are times he can't carry on a conversation." To request a free test kit call 1.877.886.2383, email alphaone@musc.net or visit www.alphaoneregistry.org.
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