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With cystic fibrosis, every day is a battle for breath

By Jim Black for The 11 min read
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Shelia Pahel discusses her battle with cystic fibrosis during a recent interview at her North Union Township home. The 26-year-old was diagnosed with the genetic disease shortly after her birth. Since then, she’s taken an array of medications every day to manage the diverse side effects of the condition.

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Shelia Pahel displays the numerous medications she takes each day to manage her cystic fibrosis. Pahel and others with her disease face a heavy financial toll that comes with it. The cost of treatment may be upwards of $10,000 a month for some patients.

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The cystic fibrosis lung

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Dr. Joel Weinberg, co-director of the Cystic Fibrosis Clinic in the University of Pittsburgh Medical Center’s Division of Pulmonary, Allergy and Critical Care Medicine

Shelia Pahel takes dozens of pills a day to support her respiratory and digestive function. She uses multiple inhalers to help clear her lungs of mucus and ward off infection. Plus, she has to consume thousands of calories a day and take vitamins and other supplements just to give her the nutrients she needs.

It takes all this and more for the 26-year-old North Union Township woman to manage the diverse effects that cystic fibrosis (CF) has on her lungs, digestive tract and other areas of her body.

“I’ve been on treatment since I was a baby,” she says. “I never get a break.”

However, breakthroughs in medical therapy, CF management strategies and research into the genetic underpinnings of CF are offering hope to the estimated 30,000 Americans with CF. As evidence, nearly half of the CF patient population today is age 18 or older, compared to the 1950s, when few children with CF lived to attend elementary school, according to the Cystic Fibrosis Foundation.

“When I first started about 25 to 30 years ago, the median survival for a person with cystic fibrosis was age 16,” says Dr. Joel Weinberg, co-director of the Cystic Fibrosis Clinic in the University of Pittsburgh Medical Center’s Division of Pulmonary, Allergy and Critical Care Medicine. “The survival has gone up one year every year since I started, and now the median survival for cystic fibrosis is about 41. It used to be a disease of younger people, and now it’s becoming a disease of middle-age people.”

Far-reaching effects

CF is an inherited disorder involving a faulty gene and its related protein, CFTR, which plays a key role in the production of mucus, sweat, saliva, tears and digestive enzymes. In CF, mutations in this gene cause the normally thin, lubricating mucus to become viscous, clogging the lungs and resulting in persistent coughing (often with thick phlegm), wheezing or shortness of breath. The accumulation of this mucus creates an environment for recurrent sinus and lung infections. CF also may increase the formation of nasal polyps and damage the airways in the lungs–a condition known as bronchiectasis–making it harder to move air in and out of the lungs.

Another organ commonly affected by CF is the pancreas, where the thick, sticky secretions obstruct the flow of important enzymes necessary for breaking down food and absorbing vital protein, fats or fat-soluble vitamins (vitamins A, D, E, and K). The resultant malabsorption causes many people with CF to suffer poor growth and difficulty gaining weight, despite having a good appetite. The nutritional deficiencies may increase the risk of low bone density and osteoporosis. Plus, CF eventually can damage the insulin-producing beta cells in the pancreas, leading to diabetes in about 30 percent of patients.

Additionally, CF can cause reproductive complications. Nearly all boys and men with CF are infertile because the tube that carries sperm from the testes to the prostate and the penis is either clogged with mucus, improperly developed or absent altogether. (Some men with CF can still father children with assistance from in vitro fertilization and other procedures.) Women with CF generally have decreased fertility, although many can still conceive and have successful pregnancies.

Over time, in advanced CF, repeated lung infections and other damage may result in respiratory failure. In some people who’ve lived for years with CF, lung damage may increase blood pressure in the pulmonary arteries, forcing the heart to work harder to pump blood to the lungs. Eventually, the heart may pump less efficiently, resulting in right-sided heart failure.

“Cystic fibrosis is a significant burden,” Weinberg says. “It can also affect the liver–there are many organs that can be affected by it.”

Finding CF

Although the prevalence of CF in the general population hasn’t changed, the number of people identified with the CF genetic abnormalities has risen, thanks to increased screening efforts, Weinberg says. Newborns in all 50 states now undergo routine screening for CF, usually within two or three days of their birth. Testing also may be recommended for older children or adults who weren’t screened at birth, particularly if they have chronic sinus or lung infections, bronchiectasis, nasal polyps, recurrent pancreatitis (inflamed pancreas) or male infertility without low sperm count.

Screening of newborns may include a combination of genetic testing and blood tests for elevated levels of immunoreactive trypsinogen (IRT), a chemical released by the pancreas. The newborn testing may gauge the likelihood of CF, but it cannot reliably diagnose the disease. In fact, most babies with abnormal screening results do not have CF, according to the CF Foundation.

So, any suspicious screening result must be confirmed by a sweat test, the most accurate way to diagnose CF. The test measures the amount of salt in perspiration–people with CF typically have elevated levels of salt in their sweat. (Newborns don’t sweat, so babies can’t undergo a sweat test until they’re 3 or 4 months old.)

The testing should be performed at CF Foundation-accredited care centers, such as UPMC, Weinberg advises. “Even in tests like the sweat tests, it’s very difficult to perform it in a very specific way, especially on young children,” he explains. “Unless you have a center that can do those tests over and over again, the results can be very variable. The worst thing you can have is a positive or equivocal sweat test, and because of that the parents go through a great deal of emotional trauma, and then it turns out the child really doesn’t have cystic fibrosis. We don’t want to subject anyone to misinformation about CF.”

Monitoring CF

Pahel was diagnosed with CF when she was 15 days old. From there, she says, it wasn’t long before she started to feel the effects of the disease.

“I didn’t start public school until the fourth or fifth grade,” she says. “If I didn’t go to school, I was in the hospital and I had a tutor who brought my schoolwork. I tried to make the most of it.”

She graduated from Laurel Highlands High School, although her illness prevented her from taking part in the commencement ceremony. She spent the last four months of 2014 and a good part of this year in and out of hospitals, she says, dealing with the effects of CF on her lungs, pancreas, liver and heart.

Weinberg and other experts recommend that CF patients follow up with their medical team at least every three months. These evaluations include tests of lung function, sputum cultures of the bacteria in their lungs and assessments of nutrition and weight. Patients also undergo periodic blood tests to check vitamin levels, blood sugar and other health parameters, such as liver and pancreatic function.

“We look at their weight constantly because we know that when their weight starts falling, that’s directly correlated with their lung function,” he says. “If there are any changes, we’re very aggressive to get them back to their baseline so that they don’t deteriorate. That’s one of the practices we’ve found over the years that has impacted the life expectancy in CF so dramatically.”

CF Foundation-accredited centers, like UPMC’s, feature a team of physicians representing multiple medical specialties, including pulmonologists, endocrinologists, gastroenterologists, psychologists, and ear, nose and throat specialists. The team also includes respiratory and physical therapists, dietitians and social workers, who can offer guidance about financial assistance programs available for CF patients.

“It’s important to come to a center like ours because cystic fibrosis is complex and there are many different systems we have to look at,” Weinberg says. “It’s very hard for one person to manage all of this, especially when you have a very complex disease like CF that’s always changing.”

Treating CF

Pahel and others with her disease not only have to invest time and effort to stay on top of the many facets of CF, but they also must deal with the heavy financial toll that comes with it–the cost of treatment may be upwards of $10,000 a month for some patients, Weinberg says. Although in Pennsylvania some CF medications are covered under Medical Assistance, “it can still be a large financial burden,” says Weinberg, one of Pahel’s CF specialists. “There are co-pays, and it’s very stressful for a family. …Cystic fibrosis is a chronic disease that requires a lot of maintenance care and expensive medications.”

A typical CF medication regimen may include oral or inhaled antibiotics to treat and prevent lung infections, mucolytic drugs to thin mucus, bronchodilators to keep airways open, and oral pancreatic enzymes to help with nutrient absorption.

CF patients also are trained in chest physical therapy, the use of certain postures and breathing techniques that help clear airways by loosening mucus and making it easier to expel it from the lungs. Several mechanical devices, such as an oscillating inflatable vest, also can help loosen mucus.

Exercise is vital for people with CF because it can help clear mucus and improve overall quality of life, Weinberg emphasizes: “We encourage patients to get lots of exercise. Exercise is a form of pulmonary clearance, and we’ve found that patients who keep their body mass up and their muscle tone up and are more aerobically conditioned do better.”

For patients who, despite medical treatment, have advanced CF and severe lung disease (lung function less than 30 percent) that significantly limits activities of daily living, doctors may begin discussions about lung transplantation. Although a transplant effectively cures CF in the lungs, it does not eradicate the disease in other areas of the body, such as the pancreas or reproductive system.

Lung transplants for CF have been a subject of controversy. Critics contend that the risks of lung transplantation outweigh the benefits, citing the risk of organ rejection and the patients’ need for anti-rejection drugs that suppress the immune system and increase their already heightened risk of infection.

However, Weinberg points to success stories, including a man who received a lung transplant 22 years ago.

“I hadn’t seen him for years, and then he came to me literally in tears because his lung function was normal and they wanted to take away his disability,” he recalls. “You hear about the bad things, like organ rejection, but then there are spectacular stories. The five-year survival for lung transplant patients now is around 60 percent, and many of those people do very well. And these are people who, by the time they need a transplant, they have a life expectancy of probably a year or less.”

Hope for a cure

Newer medications, such as ivacaftor (Kalydeco), are designed to target the underlying cause of CF: the faulty CFTR gene and protein. Ivacaftor is approved for CF patients age 2 and older who have at least one of 10 mutations in the gene–a small subset of patients.

Right now, the main issue with this new “designer” drug is the price. Treatment with Kalydeco costs more than $300,000, although many state Medical Assistance programs are covering the drug because of its effectiveness and the small number of patients who use it. (Pennsylvania’s Medical Assistance program covers the drug, with prior authorization.)

Despite the cost, the promise that ivacaftor and other new drugs hold for CF patients is “very exciting,” Weinberg says.

Two weeks ago, a U.S. Food and Drug Administration (FDA) advisory panel recommended the approval of, Orkambi, which combines ivacaftor with the drug lumacaftor for use in CF patients ages 12 and older who have two copies of the most common CFTR gene mutation. The FDA panel’s recommendation was followed by the May 17 online publication of a study in the New England Journal of Medicine that found that patients who took the drug combination gained significant improvements in lung function and weight, with fewer lung-related exacerbations that required treatment with antibiotics and other interventions.

“If those trends continue and we can slow the rate of decline of lung function and other systems with cystic fibrosis, that’s dramatic,” Weinberg says. “If you can start these drugs very early on and you correct the decline in lung function, maybe you’re not curing the gene but you might be talking about CF in 60- or 70-year-olds.

“This is a first generation of these drugs. I’m sure that as more are tested, there will be even more dramatic results,” he adds. “Twenty to 30 years ago when I started in this field, we never talked about a cure for cystic fibrosis, and now we’re thinking along those lines.”

On the web

For more information about cystic fibrosis, visit the Cystic Fibrosis Foundation’s web site: www.cff.org

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