Growing up in Arlington, Mass., John Walsh, 63, and his twin brother, Fred, didn’t worry when their mother, Helen, seemed to catch every cold that went around. After all, she was an elementary schoolteacher, frequently exposed to the sneezes and sniffles of her young students.
But when she died at age 46 from what was described as “early-onset emphysema,” things didn’t add up. Helen had never smoked or been exposed to environmental risk factors.
Decades later, John and Fred found themselves suffering from similar chronic symptoms.
“At 35, we’d both had a couple bouts of pneumonia and hospitalization,” says John, co-founder and president of the Alpha-1 Foundation and the COPD Foundation. “Then we were both diagnosed with allergy-induced asthma, but neither of us was really responding to the asthma meds.”
Eventually, tests confirmed that Fred had a genetic marker known as Alpha-1 Antitrypsin Deficiency (Alpha-1). People with the condition have lower levels of a protein that helps protect the lungs from irritation, which leaves them more susceptible to lung diseases such as chronic obstructive pulmonary disease (COPD). An estimated 2 to 3 percent of COPD cases are related to Alpha-1.
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When his test came back positive, Fred called his brother and said, “I have good news and bad news,” John recalls. The good news was that he’d finally identified the source of his longtime lung troubles—and the mystery was likely solved for John, too.
“I said, ‘You don’t have to tell me what the bad news is: That’s what Mom had,’” John says.
But instead of withdrawing in fear of a condition that had taken their mother’s life, the brothers took a proactive approach to their health. Both enrolled in an Alpha-1 study conducted by the National Heart, Lung and Blood Institute. And when he learned that the National Institutes of Health (NIH) was planning to halt research on the gene, John joined forces with two other Alpha-1 patients to create the Alpha-1 Foundation in 1995.
“I personally think—and the scientific community is really looking at the possibility—that the genetic risk factors for COPD are more significant than originally thought,” John says.
Since its inception, the Alpha-1 Foundation has raised more than $47 million for research, and the NIH and other large-scale research bodies have resumed studying the genetic marker.
But John’s advocacy work wasn’t done. After a decade running the Alpha-1 Foundation, scientific leaders in the COPD community approached John about establishing another nonprofit organization. “There was no organization representing or organizing COPD—it was being approached through a ‘clean air and tobacco control campaign’ and not recognized as a chronic condition,” John says. “We set out to apply what we did with Alpha-1 and inform, educate, empower and engage individuals with COPD.”
Established in 2004, the COPD Foundation raises money for research, helps connect patients with clinical and treatment opportunities, operates mobile screening programs, publishes educational materials and mounts star-studded public awareness campaigns. In the process, the COPD Foundation also has spread the word about Alpha-1 and made genetic testing part of the standard of care for COPD—a move that has nearly doubled the diagnosis of Alpha-1 in the COPD community.
Both John and Fred remain as active as possible and work hard to manage their condition. Even with a lung function of only 34 percent, “I’m healthier than I was 10 years ago,” John says. And while Fred requires full-time supplemental oxygen and is awaiting a lung transplant, he stays busy as a peer health coach for the Alpha-1 community.
Fortunately, the brothers have had each other to lean on through the ups and downs of living with COPD. But not all patients have such emotional support. So in return for the wealth of information the COPD Foundation provides, John hopes patients will heed the organization’s call to action.
“Become a COPD advocate, join a registry or an awareness campaign,” he says. “We need to help support each other.”