Patient Stories

Living with AAT deficiency can pose challenges. For many patients with AAT deficiency (Alphas), sharing experiences and ideas with other Alphas can be helpful in successfully dealing with challenges.

AAT - Patient Story 1

During a hiking trip in Aruba, Wayne first experienced symptoms that would eventually lead to his diagnosis of AAT deficiency. However, he hasn't let AAT deficiency stop him from traveling.

As a self-employed compensation consultant in New Orleans, Wayne Vicknair has enjoyed the freedom to truly appreciate where he lives. In fact, he once served as King of one of the city's famous Mardi Gras parades.

Although he had been treated for asthma for a number of years, Vicknair was surprised at the breathing difficulties that came over him while walking up a hill on the island. "I actually had to stop and catch my breath," he recalls. "I saw that a lot of the people passing me on the trail were elderly and wondering why I was having so much trouble."

When he returned from his trip, Vicknair was referred to a pulmonologist who administered a breathing test. "He put me on a heavy dose of medication for ten days, as though I had suffered a severe asthma attack," Vicknair explains.

"When my breathing didn't improve, he recommended testing for something I had never heard of before, alpha1-antitrypsin (AAT) deficiency. Ironically, I learned later that a representative from Shire had been at my pulmonologist's office earlier that day encouraging him to test certain patients for AAT deficiency even though it was considered a rare disease."

Three weeks after taking the simple blood test, Vicknair received a letter from his pulmonologist confirming that he did indeed have AAT deficiency. "I was also diagnosed with emphysema. I met with him and learned much more about this deficiency of a naturally occurring protein that protects the lungs," he says. "I also learned that any current damage to my lungs could not be reversed, but that through what is called 'AAT augmentation' I could receive an infusion that would augment the protein that my body isn't producing naturally."

After consulting with his primary care physician, Vicknair began AAT augmentation treatment about six weeks after being diagnosed. "Before beginning the infusions, I called my health insurance company and was asked a lot of questions regarding the illness to see whether or not I qualified for AAT augmentation. The people from the AATmosphere iNSPIRATION program were extremely helpful in providing information about AAT augmentation. Since then, they have continued to help coordinate with my home healthcare agency to get my infusions done at home."

AAT - Patient Story 3

For as long as I can remember I have not been able to fight off a cold like others. My parents took me to doctor after doctor with the same results; yet more antibiotics. I have had pneumonia more times than I care to remember. In my late forties I was at yet another new doctor when I became so ill that I could not go up and down the stairs without resting halfway. My husband and I stopped buying tickets for events because more often than not I would be ill and unable to attend the event. Fortunately I was able to find a physician who was familiar with alpha1-antitrypsin (AAT) deficiency and tested me for the disease and is still my physician today.

I was diagnosed with alpha1-antitrypsin (AAT) deficiency. My phenotype was identified as M Null. After much discussion, I agreed to try AAT augmentation treatment.

For 5 years, I worked as a patient advocate with the AATmosphere iNSPIRATION program. I met many patients that were frightened of the disease and unsure about what to ask their physicians. Being able to provide information to the patients and family members was a very rewarding experience. I currently work as an Occupational Therapist in a public school setting with special needs students.

This September my husband and I will celebrate our 35th wedding anniversary. We have been blessed with 2 adult children, a great daughter in law, and an amazing 2 year old granddaughter.