When twin brothers John and Fred Walsh learned at age 40 that they had the lung disease Alpha-1, the genetic form of chronic obstructive pulmonary disease (COPD), the dots in their family tree began to connect. At age 13, the brothers had watched their mother suffer and die from a lung disease that doctors had diagnosed as early onset emphysema. They realize now that she, too, had been a victim of the inherited Alpha-1.
The brothers knew they did not want their own families to go through the anguish they had watched as children, or to repeat their mothers suffering themselves.
Knowing that you have the disease impacts how you make decisions the rest of your life, says John, now 61 and living in Miami.
After their diagnosis in 1989, both men enrolled in a National Institutes of Health (NIH) long-term study on Alpha-1. At the studys completion, the NIH halted all research on the disease, which was unacceptable to us, John says.
With a business and technology background, John co-founded the Alpha-1 Foundation in 1995 and the COPD Foundation in 2004 to support meaningful research and improve therapies for Alpha-1 and COPD sufferers. Fred, who lives in Boston, became a regional coordinator of a related nonprofit organization, AlphaNet, which helps people with the genetic form of COPD learn more about the condition and manage their treatment.
While Alpha-1 is a relatively rare genetic disease, COPDan umbrella term for progressive lung diseases such as emphysema and irreversible asthmaaffects about 210 million people worldwide and is the fourth leading cause of death in America. Twelve million Americans have been diagnosed with the condition, and, according to the National Heart, Lung and Blood Institute, another 12 million to 14 million have the symptomschronic coughing, wheezing, breathlessness and tightness in the chest.
John believes that COPD also likely has a genetic component, since only 20 percent of smokers develop the lung disease.
Fred urges people with a family history of COPD to consider being tested for Alpha-1. Early diagnosis opens the door to proper treatment to avoid permanent lung damage.
Smoking is not the only cause of COPD. John and Freds mother never smoked but lived with a chain smoker when she was younger, which likely worsened her condition. Fred believes his work in home remodeling made his illness worse.
In the developing world, weve created our own pollution with cigarette smoke, including second-hand smoke, John says.
So far, the Walshes have helped raise more than $40 million to fund lung disease research in areas such as imaging technology, therapeutic strategies, genetic risk factors, environmental triggers and the importance of exercise.
Some of the money comes from AlphaNet, which generates revenue for the Alpha-1 Foundation from its service contracts with pharmaceutical companies. With AlphaNet, patients know there is a certain level of support. Some people dont need it, and some people need as much as you can give them, says Fred, who has 17 percent of his normal lung function and takes supplemental oxygen. Patient support is free, and revenue raised from service contracts funds research. Its kind of a no-brainer, he says.
One goal of the foundations is to empower people to do something about their illness. We want to let people know that its not a death sentence, John says. Theres an organization out there that has good information and an effective partnership with clinicians and the scientific community.
Medications also are available that can help people with COPD, including bronchodilators.
For people who smoke, however, the most important action they can take is to quit.
Everybody in America knows someone with COPD, John says. And every four minutes, someone dies of it in the U.S.
Know the symptoms
Half of the estimated 24 million Americans with COPD dont know they have the condition. Ask your doctor about a COPD test if you experience these symptoms:
- An ongoing cough or one that produces large amounts of mucus
- Shortness of breath, especially during physical activity
- A whistling or squeaky sound when you breathe
- Chest tightness