Living the Sweet Life with Alpha-1

For years, Judy Simon lived the “sweet” life. She was an elementary school teacher who then pursued her MA in special education, and devoted herself to special needs students. After a 12-year career in education, she and her husband opened Bonnie Brae Ice Cream — a staple of the Denver community.

With two sons, two grandchildren and a family with a passion for travel, life was smooth sailing with ice cream after dinner.

That was until her sister began to experience a host of respiratory issues. A common cold would stick with her for a month and often turned into pneumonia. She soon discovered that she had emphysema, even though she was in good health and had never been a smoker.

Fortunately, her pulmonologist knew about Alpha-1 Antitrypsin Deficiency (Alpha-1) and had her tested. Her test came back positive.

“My sister called me and said, ‘Well, the good news is we know why I’ve been sick. The bad news is it’s genetic,’” Judy says.

Though Judy never got sick quite the way her sister had, she immediately thought of her frequent altitude sickness and shortness of breath, which she had attributed to getting older. She got the test for Alpha-1, and it came back positive.

Alpha-1 antitrypsin is a major protein in the blood. Alpha-1 is a genetic condition passed from parents to their children. People with Alpha-1 are unable to naturally produce alpha-1 antitrypsin. A deficiency of this protein in the blood can lead to lung and liver disease. If the lungs are affected, symptoms may include shortness of breath, wheezing, chronic bronchitis, recurring chest colds, less exercise tolerance, year-round allergies and bronchiectasis. It can also cause chronic obstructive pulmonary disease (COPD), especially emphysema. Approximately 10,000 people in America have been diagnosed with Alpha-1 but the vast majority remain undiagnosed.  One reason for this is that for many people Alpha-1 is asymptomatic.

“My doctor told me I had to go to National Jewish Health and I had to meet with Dr. Sandhaus. And I’m so happy we did,” she says.

Robert A. Sandhaus, MD, PhD, is a professor in the National Jewish Health Division of Pulmonary, Critical Care and Sleep Medicine. He is the clinical director of the Alpha-1 Foundation and was named one of America’s Top Doctors in 2016 by Castle Connolly Medical, Ltd.

Judy’s first meeting with Dr. Sandhaus lasted two hours.

“He wanted us to know everything he knows about Alpha-1, and he took the time to do it,” Judy says. “It didn’t feel the way doctors’ appointments can feel, that you have your few minutes with the doctor and are shuffled along when your appointment is up. It was an incredibly reassuring experience.”

Dr. Sandhaus also connected Judy with a local support group for patients with Alpha-1 and the Alpha-1 Foundation.

Treatment of Alpha-1 lung disease is augmentation therapy. Augmentation therapy is the use of alpha-1 antitrypsin protein from the blood plasma of healthy human donors to increase the alpha-1 antitrypsin levels circulating in the blood and lungs of people with Alpha-1. Judy began weekly augmentation therapy at National Jewish Health and has felt a great relief of her symptoms.

Years later, Judy has not let Alpha-1 hold her back. In addition to owning and operating Bonnie Brae Ice Cream with her husband and rounding out a four-year term on the board of the Alpha-1 Foundation, she and her family travel frequently, including a trip to China in 2007 where doctors there administered her infusions.

 “My Alpha-1 experience has been a journey. It’s opened doors for community engagement, I’ve met incredible physicians and helped others going through exactly what I went through,” Judy says.

Over a decade since their diagnosis, both Judy and her sister are well past surviving. They are thriving. Whether volunteering her time with the Denver Alpha-1 support group, receiving augmentation therapy at National Jewish Health, or serving up a scoop of rocky road, Judy is again living the sweet life. 

 

Learn more about how you can support patients at National Jewish Health