Non-Profit for Rare Genetic Disorder Advocates for Patients
Education and Advocacy Learn more about alpha-1 antitrypsin (AAT) deficiency and its available treatment.
Kelly Newell of Bell Island, Newfoundland, is 32 and the mother of three young boys. When she was diagnosed with alpha-1 antitrypsin deficiency, she learned that her lung function was less than 50 percent. “I was told that I had the lungs of an 80-year-old,” she says. Unfortunately, Newell’s lung function continues to decline, as the augmentation therapy she needs is not covered by her provincial drug program. Augmentation therapy is a plasma-derived treatment proven to reduce acute exacerbations and hospitalizations in alpha-1 patients, and to improve their overall quality of life.
Alpha-1 antitrypsin deficiency is a rare genetic disease wherein the body does not make enough of the alpha-1 antitrypsin protein (AAT), which protects the lungs and liver from damage. A lack of AAT leads to lung and liver diseases, such as emphysema and cirrhosis. Angela Diano, the Executive Director of Alpha-1 Canada, hears stories like Newell’s every day from patients across the country. “People are dying prematurely merely because augmentation therapy is not equally accessible to many alpha-1-affected Canadians,” says Diano.
Alpha-1 Canada is dedicated to advocating on behalf of patients requiring augmentation therapy. Although the therapy is plasma-derived, it is not currently distributed by Canadian Blood Services and only a few provinces provide coverage for the treatment. Fewer than 500 Canadian alpha-1 patients currently require augmentation therapy, but it’s estimated that thousands of Canadians could potentially be carriers of the disease.