Living with Alpha-1 Antitrypsin Deficiency (A1AD)

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BEST BOOK AWARD 2019 FINALIST – HEALTH: GENERAL (AMERICAN BOOK FEST)

A knowledgeable handbook with a patient’s perspective for those afflicted with the incurable disease known as Alpha-1 Antitrypsin deficiency (A1AD).

Alpha-1 Antitrypsin deficiency (A1AD) is a rare genetic, incurable disease which causes the liver to not produce enough of a certain protein that protects and keeps the lungs functional. 100,000 people in the United States have A1AD and 19 million more are carriers for the disease. Since it’s so rare, the information available about A1AD has been lacking especially for those suffering unknowingly with the disease. Living with Alpha-1 Antitrypsin Deficiency offers the most up-to-date and comprehensive information on this illness and includes first-hand experience from someone managing the disease. Living with Alpha-1 Antitrypsin Deficiency also includes expert advice from doctors and researchers tackling the disease, with tips on recognizing symptoms and getting the most effective help possible.“Samantha Bowick expertly blends clinical explanations of Alpha-1 Antitrypsin Deficiency with patient testimony, providing insight into the everyday challenges experienced by those who battle this rare condition. Living with Alpha-1 Antitrypsin Deficiency outlines the common misconceptions about this condition and the financial hardship it places on patients. Whether you’re an Alpha-1 patient, a family member or friend, there is something for everyone within Bowick’s work.”
—Scott Bruun, Executive Director of the Chronic Disease CoalitionSamantha Bowick has a Master of Public Health (MPH) degree from Liberty University. She received a Bachelor of Science degree in Health Care Administration at Columbia Southern University. She is devoted to using her education and experiences to advocate for people who suffer with chronic illnesses through Chronic Illness Support, LLC, an organization she recently founded. She is the author of Living with Endometriosis. She currently lives in Aiken, South Carolina.

Marie Bowick has lived in Aiken, South Carolina her entire life. She was diagnosed with Alpha-1 Antitrypsin deficiency at 46 years old and was the primary caregiver to her younger brother when he was also diagnosed with the same disease. Now on disability due to her illness, she previously worked in manufacturing and warehouse stocking. She’s been married for 27 years and has two daughters.

Nicholas J. Sanito, DO, is a pulmonologist based in Aiken, South Carolina and is affiliated with Aiken Regional Medical Centers. He received his medical degree from Nova Southeastern University College of Osteopathic Medicine and has been in practice for more than 20 years. His specialties include Critical Care Medicine and Pulmonary Disease.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, DOUS

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