John and Fred Walsh discover a family gene behind their breathing problems.
John Walsh, co-founder of COPD Foundation, vividly recalls the day his twin brother called and said, “I’ve got some good news and some bad news. The good news is, I’ve found out why we’ve been struggling to breathe these past few years. It’s Alpha-1 antitrypsin deficiency, a genetic disorder that causes COPD [chronic obstructive pulmonary disease] in people our age. Now that we can put a name to it, we’ll know how to treat it.
“The bad new is, this is what killed Mom.”
John held onto the phone, stunned. Then fear began to creep in. Their mother had died when she was just 46 years old and the brothers were 13. Now, at age 40, were they facing the same early death sentence?
John and Fred are fraternal twins, so their genes are not identical. However, their breathing symptoms and medical history were so similar they figured if one brother had this genetic disorder, chances were good the other had it too. It would explain why both had developed COPD-like symptoms at such an early age.
Walsh resolved to do everything in his power to prevent family history from repeating itself. In addition to searching therapies to keep himself and his brother breathing as well as possible, he dedicated his life to helping other, co-founding the Alpha-1 Foundation, AlphaNet and the COPD Foundation.
COPD – All Too Common
COPD is fast becoming the third most common cause of death in the U.S. It is a catch-bucket term for a combination of emphysema (which damages the tiny air sacs in the lungs where oxygen transfers into the bloodstream) and chronic bronchitis (which leads to excess mucus and coughing). Most people with COPD develop symptoms after the age of 55 and years of exposure to lung irritation, such as smoking. Alpha-1 is a genetic trait that causes COPD in younger people, affecting many that never smoked.
COPD is heavily under-diagnosed. Some 12 million Americans know they have it, but Walsh believes there may be another 12-14 million people who are symptomatic, undiagnosed and not being treated.
Many of these undiagnosed cases have been told they have asthma. Some do – it’s not unusual for people to have both COPD and asthma – others have been misdiagnosed, since symptoms of the two diseases are so similar. It’s a tricky distinction.
Asthma is an inflammation of the airways that is reversible – meaning the symptoms can be stopped or reversed – by using the right medication and/or avoiding environmental allergens and irritants that cause inflammation.
COPD causes permanent damage. You can treat the symptoms, but you can’t repair the lungs. However, Walsh stresses COPD is almost always preventable and mostly treatable.
AAT: What causes COPD?
Walsh: For most people without Alpha-1, it’s smoking or being around secondhand smoke. Others get it after years of breathing chemicals, dust or fumes in the workplace. Alpha-1 is currently the most significant genetic risk factor for COPD passed down from parent to child. If you know that you have the Alpha-1 gene, staying away from cigarette smoke, environmental irritants and infections (as much as possible) may prevent onset of COPD symptoms. We don’t know how many people with Alpha-1 are symptom free.
Growing up with a mother who had trouble breathing made me very aware of the importance of healthy lungs, so I never smoked. Because of my Alpha-1 deficiency, however, my lung function is down to about 37 percent of normal. My brother, who smoked for 10 years and worked around a lot of environmental irritants, has a lung function down below 17 percent and he’s on full time supplemental oxygen and a lung transplant list.
AAT: What’s the difference between asthma and COPD?
Walsh: Asthma is an inflammation of the airways that is reversible – meaning the symptoms can be stopped or reversed – by using the right medication and/or avoiding environmental allergens and irritants that cause inflammation.
COPD causes permanent damage. You can treat the symptoms, but you can’t repair the lungs. However, COPD is almost always preventable and mostly treatable.
Fred and I were both diagnosed with allergy-induced asthma years before discovering we had Alpha-1. Treatment with asthma medications wasn’t successful for us, however, and our breathing problems got worse and worse. This is fairly common. Many people are told they have adult-onset asthma when really they have COPD – or they have COPD along with asthma. The early symptoms are quite similar: an increasing shortness of breath, usually with exercise or even just climbing stairs. But then with COPD, the breathing difficulties get worse, gradually affecting most everything you do. And when you get a cold it doesn’t stay in the head, it goes straight down into the lungs and causes an infection or pneumonia. This happens to some people with asthma, too, but it’s very common with COPD.
AAT: What’s the treatment for COPD?
Walsh: If you start treating symptoms as soon as they appear, medications will help keep your airways open and avoid infections. A weekly infusion of augmentation therapy, using the alpha-1 antitrypsin protein from plasma, has slowed the progression of deterioration of lung tissue for many individuals with Alpha-1. People with COPD depend on some of the same bronchodilator medications as people with asthma: albuterol and levalbuterol. But we also use anticholinergics such as ipratropium and tiotropium. Inhaled medications that contain a combination of corticosteroids and long-acting bronchodilators are used for more severe cases where bronchodilators are not enough.
People with COPD are so prone to lung infections, we also advise them to get vaccinated against pneumonia and to get an annual flu shot.
As the lungs become more damaged, less oxygen moves from the airways into the bloodstream and on to the vital organs, like the heart. That’s when most people begin oxygen therapy. Not everyone will need this – and many resist it, because it’s inconvenient — but if your oxygen saturation goes below 90 and your physician prescribes supplemental oxygen, pay attention. Your heart is a muscle and muscles need oxygen to function properly. Other vital organs also need oxygen. If you can relieve symptoms and prevent serious breathing problems early on, you can definitely extend your life span.
The other important therapy is exercise. However, it’s important for someone with COPD to be evaluated before beginning an exercise program to learn how much can be done safely and whether extra inhalers or oxygen are needed. Pulmonary rehabilitation programs – which are kind of like physical therapy for the lungs – provide supervised, personal exercise routines that can make a huge difference in quality of life. These programs are also extremely effective in educating individuals with COPD and empowering them to get involved with their care plan. The COPD Foundation is working to generate more awareness about pulmonary rehab and get more programs set up across the country.
We are excited that the most recent Medicare act mandates coverage for pulmonary rehab nationwide, and we want to make sure this legislation is enforced and that people have access to programs within a reasonable geographic area. The COPD Foundation, American Association for Respiratory Care, U.S. COPD Coalition and many other organizations worked very hard to include reimbursement for pulmonary rehab in the Medicare bill. Grace Anne Dorney Koppel and Ted Koppel’s active involvement in this campaign made a significant impact on many law makers
AAT: What are the priorities for the COPD community?
Walsh: At the COPD Foundation, our focus is to inform, educate, empower and engage individuals with COPD to get involved. We want them to know how to take care of themselves and how to identify symptoms that need treatment. We want people to understand the importance of vaccines, and have access to appropriate medications and pulmonary rehabilitation. All that will help us improve our quality of life.
COPD is not a death sentence. With proper medications and active participation with our healthcare providers, we can improve the quality of our lives and, if we can diagnose early enough, live normal lives. My lung function has declined since my diagnosis, but I don’t let it stop me. I travel across the country to help people with COPD, taking my oxygen with me. I know when to slow down and how to stop symptoms before they get out of control. So far, so good!
It’s our time in 2009 to assist individuals with COPD to get involved in our own care – become COPD Advocates, join our COPD Research Registry and get involved with the NHLBI’s public awareness Learn More Breathe Better campaign. It’s up to us to promote early diagnosis and advocate for access to medications that our healthcare providers prescribe.
- AlphaNet, Inc: www.alphanet.org
- Alpha-1 Foundation: www.alphaonefoundation.org
- Big Fat Reference Guide for Alpha-1 Antitrypsin Deficiency: www.alphanetbfrg.org
- COPD Foundation: www.copdfoundation.org; Info-Line: 866-316-COPD (2673)
- National Heart, Lung and Blood Institute: www.LearnAboutCOPD.org
- Smoking cessation: www.smokefree.gov; www.lungusa.org
- U.S. COPD Coalition: www.uscopdcoalition.org
First published: Allergy & Asthma Today, October 2009
Medical Review by William Berger, MD; Eileen Censullo, RRT