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.’”
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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 Facts
- 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
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