World COPD Day Feature Story

Diagnosis is Key to Breathing Easier with Little-Known Lung Disorder

King of Prussia, PA — 17 November 2010

Huffing and puffing as he carried his luggage through airports at the age of 40, businessman Mike Wummer began to question the chronic shortness of breath he was experiencing at such a young age. Whether playing basketball or trumpet, skiing or glassblowing with his two sons, the active father would frequently have trouble breathing, forcing him to visit the emergency room. Eventually, he was diagnosed with asthma.

“I thought something else had to be wrong because at times it felt like there was an anvil on my chest,” Mike said. “I didn’t think asthma could be as bad as the symptoms I was experiencing.”

Unbeknownst to him, Mike was one of an estimated 100,000 people in the U.S. living with Alpha-1 Antitrypsin Deficiency, more commonly referred to as Alpha-1, a genetic form of Chronic Obstructive Pulmonary Disease (COPD). Alpha-1 is caused by a lack of the protein alpha-1 antitrypsin, which is produced by the liver and protects the lungs from damage.

Alpha-1 can be life threatening if not managed properly. Despite this, it is extremely under-diagnosed; approximately 95 percent of people with the condition don’t even know they have it. Research shows, on average, a person with Alpha-1 will see three doctors over seven years before he or she is properly diagnosed.

“Alpha-1 is often misdiagnosed as asthma, COPD, or emphysema because the symptoms, which include shortness of breath, wheezing, repeated lung infections and cough, are very similar,” said Dr. Kyle Hogarth, Assistant Professor of Medicine, Medical Director of the Pulmonary Rehabilitation Program, and Director of the Alpha One Antitrypsin Deficiency Center at the University of Chicago Medical Center. “A simple blood test can confirm a diagnosis of Alpha-1 and ensure that the patient receives proper treatment.”

It wasn’t until Mike came down with a severe bout of pneumonia that he defied the odds and was tested for Alpha-1. After receiving a proper diagnosis he began managing his condition, which is critical because in its late stages or if left untreated, Alpha-1 can cause significant lung damage, and cirrhosis of the liver. Therapies which replace the missing protein that helps lungs function properly are available to treat the disorder. Exercising regularly is also crucial.

“I had never heard of Alpha-1 even though I had been living with the condition’s symptoms for decades,” recalls Mike. “I had to talk to my doctor and do a lot of research about living with the disorder.”

Nowadays, Mike manages Alpha-1 with an augmentation therapy that is manufactured by CSL Behring, a biopharmaceutical company that is committed to education and support for people with the condition. He also remains active by walking and biking, with the help of oxygen, three times per week.

After a long journey to a proper diagnosis, Mike is grateful that he can once again lead an active life with his family. For the last two years he was an Alpha-1 support group leader encouraging those who have been diagnosed with uncontrolled asthma or COPD to be tested for the condition.

If you or someone you know has any of the symptoms of Alpha-1 or think you may have been misdiagnosed with asthma, COPD, or emphysema, visit for more information.

LinkedIn Twitter Facebook Google+