Living with Alpha-1 Antitrypsin Deficiency (A1AD)

Living with Alpha-1 Antitrypsin Deficiency (A1AD)

Who knew she had a genetic disorder? At first blush, it seemed so simple and straightforward: Marie smoked cigarettes, had abnormal lung function tests, and had breathing symptoms, namely cough and shortness of breath. This was a typical case of self-inflicted COPD (chronic obstructive pulmonary disease) and emphysema.

Treatment would be straightforward as well: prescription inhalers to improve (or at least stabilize) lung function, thereby relieving symptoms. Of course, quitting smoking was strongly advised at every office encounter as well.

As time went by, however, things were not so straightforward. Marie’s symptoms progressed more severely and rapidly than expected for a typical COPD patient, despite the use of newer, state-of-the-art medications. Her lung function tests showed a precipitous decrease in just one year’s time. Something just didn’t fit. So at that point we did “the test.” Sure, we had checked a few patients in the past, but the tests always came back negative; the condition is so rare, those results were no surprise. Surely, Marie would be no different.

But she was different. “The test” showed a profound deficiency of alpha-1-antitrypsin, rendering Marie’s lungs susceptible to tissue destruction and the development of emphysema, regardless of cigarette smoking. The toxins in cigarette smoke simply accelerated the process, causing loss of lung function essentially right before our eyes.

A new approach had to be taken. First, smoking had to stop. There was no further need to “recommend” or “encourage” Marie to quit. Second, augmentation therapy had to start. This meant a commitment to receiving weekly intravenous infusions of alpha-1-antitrypsin therapy, to replace (“augment”) the alpha-1-antitrypsin protein that her body was not producing. The goal of treatment would be to slow or stop the process of further lung tissue destruction. Unfortunately, augmentation therapy could not repair the lung damage that had already been done.

Ten years later, with her daughter Samantha still a driving force involved in her health care and well-being, Marie continues to battle. She relies on continuous oxygen therapy, on inhalers, on nebulized respiratory treatments, on physical therapy, and strong family support.

To be sure, Marie is short of breath, certainly limited in her ability to perform routine day-to-day activities. Showering can be exhausting. Housework is nearly impossible. Nevertheless, she marches on. Every week she has a nurse come to her home, receiving her augmentation therapy, trying to hold on to the compromised lung function that remains. The future is uncertain, but she remains hopeful.

—Excerpt from the Foreword by Dr. Nicholas J. Sanito, DO