"I don’t know if there will ever be a cure, but I do know that there is a community of support for those living with Alpha-1."
Alpha-1 Antitrypsin Deficiency
Zemaira® (Alpha-1 Proteinase Inhibitor)
Gasping for air while cross-country skiing or coughing uncontrollably whenever around perfume or smoke, Idaho (US) native Diane Angell had always attributed her chronic shortness of breath to asthma.
"As a child, I noticed my mother’s chronic cough and constant use of cough drops," Diane said. "When I was in my 20s, I also developed a chronic cough. I was eventually diagnosed with asthma, but I didn’t feel my body was responding to the medication I was prescribed."
It wasn’t until Diane was in her early 40s and visiting her physician with gastrointestinal issues that tests showed signs of emphysema in her lungs. Referred to a pulmonologist, Diane eventually received a simple blood test that revealed she had
Alpha-1 Antitrypsin Deficiency.
The condition, commonly called Alpha-1 or AATD, is a genetic disorder that increases a person’s chances of developing lung diseases, such as chronic obstructive pulmonary disease (COPD) or emphysema.
The disorder is caused by a lack of the protein alpha-1 antitrypsin. This protein is made in the liver and protects the lungs from damage caused by infection and inhaled irritants such as smoke.1
"By the time I was diagnosed with Alpha-1, my lung function had already decreased significantly," Diane said. "Because the disorder is hereditary, my brother was tested and also diagnosed with the condition."
Diane and her family set out to find as much information about the disorder as possible. She learned that Alpha-1 often goes undiagnosed or is misdiagnosed as other disorders, such as COPD, asthma or emphysema, because the
symptoms are similar: shortness of breath, chronic cough, difficulty breathing, and wheezing.1
"Of the estimated 100,000 people in the US who are living with Alpha-1, up to 95% don’t even know they have it," Diane said. "My first three years following diagnosis were a pretty lonely time, but my world changed when I found an Alpha-1 support group near my hometown. I became the group’s president and worked with my peers to try and help others living with the condition."
Today, Diane manages her condition with
Zemaira®, an alpha-1 proteinase inhibitor manufactured by
CSL Behring. This augmentation therapy replaces the missing protein in people with Alpha-1 deficiency. She also exercises regularly, which is crucial when managing the disorder.
"Knowing the struggles I endured early on with trying to find accurate information about Alpha-1, I joined CSL Behring as a Patient Support Specialist, focused on supporting those who are coping with the condition," Diane added.
When not working with CSL Behring to help others diagnosed with Alpha-1, Diane spends her time with her 13 grandchildren. She also enjoys the outdoors, regularly playing golf, camping and hunting.
"Alpha-1 is not as scary to me as it was when I was first diagnosed," Diane said. "I don’t know if there will ever be a cure, but I do know that there is a community of support for those living with Alpha-1."
1. Alpha-1 Foundation -- What is Alpha1? Alpha1 Fast Facts. Available at:
http://www.alpha-1foundation.org/alphas/?c=01-What-is-Alpha-1-Alphas. Accessed on November 18, 2010
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