Are You an Alpha (A-1AD deficient)?
It was Mary Pierce’s 40th birthday. As she stood in her kitchen that day, her phone rang. It was not a call from a friend to wish her well, but news from her doctor that would change her life.
“I was right,” he said. You have this thing called Alpha-1 Antitrypsin Deficiency. It’s inherited.
For years Mary had been struggling with shortness of breath, repeated lung infections, severe, unexplained weight loss, and a major decrease in her tolerance for physical activity. All the time she was blaming herself. “When I started getting symptoms, mainly the weight loss and shortness of breath, I thought, “You dummy, you’ve got to stop this. No doctor’s going to be able to do anything for you until you quit smoking.”
She flashed back to the time when a friend came to visit from California. It was this friend’s idea to go play tennis. After running for just three balls Mary was in trouble.
She thought, “Hey, what’s going on here? I can’t breathe!”
But at that point she could not admit to herself that she was having difficulty breathing, let alone admit it to her friend. “I faked it and said, ‘It’s really too hot. Let’s not play.’”
Her reason for not playing tennis that day was the first in a long line of excuses she felt she must make for why she could not do what healthy people usually find easy.
Over the next ten years Mary tried to quit smoking. She took several stop smoking classes, and although she cut down to around a half a pack per day, she continued to smoke. But her breathing wasn’t getting any better. As the years went by, Mary was still losing weight and hiding her increasing shortness of breath from her family, friends, and co-workers. “I was doing everything I could to pretend that it was okay.”
Through living with limitations brought on by decreasing lung function, bearing the guilt of smoking and not being able to quit, carrying the shame of denial that she was damaging her lungs – compounded by the burden of hiding it all – Mary silently kept her own counsel.
“I’ve got to quit smoking. Nothing’s going to happen until I stop smoking. I just took all the responsibility. I’m a good Catholic girl. I took all the guilt on myself. I said to myself, ‘Don’t expect anybody else to help. I’ve got to do it my own dumb self. My smoking is doing it.’ So that’s how I rationalized it.”
Mary’s dad died of emphysema and her mom of lung cancer and emphysema. Her husband’s father had also died of lung cancer and emphysema. Both Mary’s parents had smoked cigarettes. She recalls aunts and uncles coming over to play cards and the house being full of cigarette smoke. She herself started smoking at about age 13, sneaking cigarettes. So you might think that it was, indeed, all her fault. But not so.
What she didn’t know at the time was that because she was A-1AD deficient, her lungs lacked protection from the smoking and the host of all the other environmental irritants she encountered. The damage was occurring at an accelerated pace. It was much more destructive to her lungs than it would have been to a person with normal lungs. At age 30 Mary was developing the lungs of an old woman.
“Then one time I was all weekend sitting up, struggling to breathe in the chair, really struggling. I thought, ‘Man, if I have to live like this I don’t want to live anymore. Monday morning came and I called the doctor. At that point I weighed 99 pounds. He took one look at me and said, ‘You’re too young to have this much lung disease.’”
Back to when our story began, the doctor continued. “You have this thing called Alpha-1 Antitrypsin Deficiency. It’s inherited. They’re doing some experimental treatment at the NIH (National Institutes of Health). We can try to get you into a clinical trial.”
“That gave me some hope,” said Mary.
“Then he said, ‘They’re also beginning to do lung transplants.’”
“Transplants! That’s the one thing that told me how bad it was.” (At this point in time there had only ever been one lung transplant done on an Alpha patient in all of North America.)
“I can visualize myself standing in my kitchen, hanging the phone up, and saying to myself, ‘OK, what do we do now? What do we do to make this go away…”
Over 20 years after Mary got that call, although progress has been made, Alpha-1 Antitrypsin Deficiency remains vastly under diagnosed. Awareness of the disease is abysmal, even within the medical community! Patients with Alpha-1, see on an average, six doctors before being correctly diagnosed. We can – and must – do better!
Don’t let guilt and shame keep you from seeking help. Whether or not you smoke, take this A-1AD assessment and take charge of your lung health. You can do it. Start here. Start today.
To read the rest of Mary’s story, the inspiring story behind the creation of the Alpha-1 Foundation, and more, read Breathe Better, Live in Wellness: Winning Your Battle Over Shortness of Breath.
- Alpha-1 Antitrypsin Deficiency (A-1AD) is one of the most common serious genetic conditions in America and is more common than Cystic Fibrosis.
- Alpha-1 can cause liver disease in children or severe liver and lung disease in adults, most often causing early Emphysema.
- It is estimated that only 6,000 of the estimated 100,000 Americans with Alpha-1 have been diagnosed.
- An additional 21 million Americans are estimated to be genetic carriers of this disorder.
- Since 1996 the World Health Organization has recommended that all individuals with COPD and adults and adolescents with asthma should be tested for ATT Deficiency.
Source: Alpha-1 Foundation www.Alphaone.org
For information about confidential diagnosis, go to:
www.alpha1.org -- Alpha-1 Association
www.alphanet.org -- A not-for-profit disease management company
www.alphaone.org -- Alpha-One Foundation
www.alphaoneregistry.org -- Alpha-1 confidential research registry