It’s important for individuals with COPD, especially younger people, to be tested for Alpha-1 Antitrypsin Deficiency (also referred to as just Alpha-1). Not only could this test affect you, but your family as well.
“Early detection is important for people to help get the information and treatment they need to live a long and healthy life,” Quill says.
Jim Quill, an Alpha, knows all too well the importance of being tested for Alpha-1. Quill, 60, has lost three siblings to Alpha-1 and a combination of other diseases. Quill, who just celebrated his five-year anniversary of a double-lung transplant, was tested in the 1980s when his older brother Bill was diagnosed with Alpha-1.
“Early detection is important for people to help get the information and treatment they need to live a long and healthy life,” Quill says. Alpha-1 Antitrypsin Deficiency, is a genetic condition that is passed from parents to their children, resulting in possible serious lung and/ or liver disease at various stages in life. Alpha-1 antitrypsin (AAT) is a protein normally found in the lungs and the bloodstream. If you don’t have enough of this protective protein, you are at a higher risk for developing lung diseases.
“My youngest brother Geoff, who passed away when he was 47, married a woman who is a carrier. His three children all tested positive for Alpha-1, and his son Geoffrey passed away at the age of two from liver disease. Geoff’s daughter Amy had a liver transplant when she was five, and his other son, Gregg, is in his early 20s and although shows no symptoms, is being carefully monitored by his physicians,” Quill says. “Both of my sons are carriers and it just shows you that Alpha-1 is out there in the general population. This shows you how it genetically branches out throughout a family. When anyone’s diagnosed, it’s critical to get everyone in the family tested.”
Being tested is also important because of the different kind of treatment for Alphas — augmentation therapy. Augmentation therapy consists of weekly intravenous (IV) infusions of Alpha-1 Antitrypsin derived from human plasma. It is used to increase the concentration of the protein in the blood and lungs. Augmentation therapy is the only FDA-approved treatment for Alpha-1 Antitrypsin Deficiency. In the U.S., about 100,000 individuals have severe Alpha-1, but only about 6,000 of them are diagnosed.
“My best advice when I talk to a newly diagnosed person is urging them to talk to their family members to get them tested. They need to make sure their family is aware the condition exists and they should be checked,” Quill says. “If they are not Alphas, they could still be carriers.”
If you find out you have the rarely diagnosed genetic disorder, your family can also be tested and the younger generations can take the steps necessary to help them stay as healthy as possible. This could entail avoiding occupations that would expose them to harmful chemicals or environmental pollutants. Also, they could get lung function tests as they grow older, to be more proactive than the average person. By educating yourself and your family, you can make beneficial lifestyle choices.
“Grab a hold of the diagnosis, get all the information you can, and encourage other family members to be tested,” Quill says. “It can be managed with the right testing and information. You might have Alpha-1, but it certainly doesn’t have you.”
More information about Alpha-1 testing can also be obtained by visiting the Alpha-1 Foundation’s website: 1foundation.org.
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