It's a terrible diagnosis at any age, but years ago, it was especially devastating for children to learn that they had cystic fibrosis. • Shelly Maguire was 12 when she got the news back in the 1970s. She was told the genetic lung disease probably would kill her by age 18. • Maguire now is 51, a businesswoman who sells her skin care line on HSN, the St. Petersburg TV shopping network. And she's the author of a new book about her life.
Doctors say that increasingly, the type of success that Maguire has had managing the disease will become the rule, not the exception.
Thanks to decades of aggressive genetic research, new drugs and earlier diagnosis, doctors think they will all but eradicate the disease in just a few years.
"We are hopeful," said Dr. Mark Rolfe, medical director of the lung transplant and adult cystic fibrosis program at Tampa General Hospital, one of the largest in the Southeast. It has four cystic fibrosis patients waiting for a lung transplant and 35 who have already had transplants.
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The defective gene associated with cystic fibrosis causes the formation of thick, sticky mucus that clogs the lungs. This leads to serious infections such as pneumonia and also obstructs the pancreas, so that the body can't break down and absorb nutrition from food. For this reason, most patients have trouble putting on weight, and damage to the pancreas often leads to diabetes.
As the disease progresses, the lungs deteriorate. Once function drops to 30 percent of normal, a lung transplant is considered. It isn't a cure because patients still have the defective gene, but they essentially start over with a healthy set of lungs, prolonging their lives.
When Maguire was a child, doctors had only a few antibiotics to offer. So it wasn't long before patients went into heart and respiratory failure — their own lung secretions literally suffocated them.
By the 1980s, with new drugs and the discovery that inhaled antibiotics were much less toxic than those given intravenously, life expectancy extended into the mid 20s. Today, it's not unusual to see adult patients live to their 30s, 40s and beyond.
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For a fraction of cystic fibrosis patients, medical science can do even more.
Earlier this year, the U.S. Food and Drug Administration approved the drug Kalydeco, a daily pill, taken for life, that corrects the genetic defect associated with cystic fibrosis in some patients. While it's effective in only a small percentage of patients who have a rare form of the disease, scientists are working on another version of the drug expected to work in many more patients. Clinical trials are expected to start in the fall.
"I can look at young patients now and tell them that big things are going to happen in three or four years," said Rolfe.
"We're on the verge of a huge celebration of the next drug that will cure CF. What used to be a death sentence is potentially something we are going to cure in the next five to 10 years."
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In the meantime, patients such as Maguire continue to work hard at managing the disease.
She attributes her longevity to three lifestyle and medical factors: exercise (dance and sports in childhood, daily running as an adult); a strict routine of medical treatments; and new bacteria-fighting medications.
Maguire, who lives in Naples, is used to spending weeks at a time in the hospital for lung infections. Mindful of what frequent infections mean for lung capacity — she's holding at 50 percent — she's excited about a recent development.
"Since starting one of the newer antibiotics, Colistimethate, I'm on my eighth month without going in the hospital," she said. It's the first time since her diagnosis that she has managed to stay out of the hospital for more than six months.
The same dogged determination that she credits for extending her life also has fueled her business success, Maguire said.
She has owned and sold a large chain of beauty salons, owned several business franchises and developed a line of skin care products that she has been selling on HSN for eight years.
She tells her story in her book, Dancing in the Storm, written with Beth Huffman and available on Amazon.com.
Whether in business or in health, Maguire says her attitude comes down to a few words:
"I refused to take no for an answer.''
Contact Irene Maher at imaher@ tampabay.com