When you mention someone with emphysema you might picture an older person, strapped to an oxygen tank as punishment for their years of heavy smoking. This is true in some cases, but what many people don’t know is that there is a gene for emphysema. This condition, called Alpha-1 Antitrypsin Deficiency, is a rare genetic disorder that is passed on from both parents. I am one of the few people who suffer from this condition.
My Story
My mother developed asthma at an early age. When she was 39, she was diagnosed with emphysema. Her doctor was shocked that someone so young could have emphysema. Granted, my mother did smoke for a number of years, but her doctor believed that her light smoking could not have contributed to her medical condition entirely. After doing some research, he tested my mother for Alpha-1 Antitrypsin deficiency, and the test came back positive. He told my mother to get her children tested as well, but we ignored the warning, since there was no history of emphysema on my father’s side. After my father’s sister was diagnosed with emphysema ten years later, I took it upon myself to get tested. I was also positive for Alpha-1.
There is no cure for this genetic disorder. While I am still healthy at 23, my mother’s health is failing. She is in her fifties, and is on oxygen for 8 hours a day. She can barely walk from her kitchen to her living room without getting out of breath. It’s a debilitating illness, and it is something that everyone should be informed about.
What is Alpha-1 Antitrypsin Deficiency?
To put it simply, those who are affected with Alpha-1 Antitrypsin Deficiency (also known as Alpha-1) have a low level of a protein (Alpha-1 antitrypsin) that helps protect the lungs from neutrophil elastase. Neutrophil elastase is an enzyme that digests damaged cells and bacteria found in the lungs to promote healing. In essence, it cleans out our lungs. After this process is completed, Alpha-1 Antitrypsin destroys neutrophil elastase to ensure that the enzyme does not start attacking healthy lung tissue. Those who have Alpha-1 do not produce enough Alpha-1 antitrypsin to protect the lungs from neutrophil elastese, therefore the enzyme starts to attack healthy lung tissue.
This damage to the lung tissue is what causes Alpha-1 patients to develop emphysema. Other lung diseases associated with Alpha-1 are COPD (chronic obstructive pulmonary disease), asthma, and bronchitis. Some Alpha-1 patients also suffer from cirrhosis of the liver.
Who Should Be Tested?
Anyone with a family history of emphysema should look into getting tested, since Alpha-1 is a genetic disorder. It occurs when both parents pass on an abnormal gene to their child. I thought I was safe because only my mother was diagnosed with Alpha-1. After my father’s sister was diagnosed with emphysema, I decided to get myself tested, and the results were positive.
If you want to get tested for Alpha-1, you can order a test kit from the Alpha-1 Research Registry. Just call (877) 866-2383. You can take the test at home and send it directly to the Medical University of South Carolina. It takes about 4-6 weeks to get your test results back.
Keep in mind that there is no cure for Alpha-1, but there are ways that a person with this disorder can live a comfortable, healthy life. By eating right, exercising, and not smoking, a person with Alpha-1 has a great chance of avoiding emphysema. Perhaps someday, there will be a cure, but for now all we can do is try to live a healthy lifestyle.
