Growing up, growing older with cystic fibrosis

February 10, 2016 Providence Health Team

We’re born into this world with our mother’s blue eyes or our father’s curly hair. We also may inherit medical conditions. One of them is cystic fibrosis, a life-threatening, not yet curable disease.

Sixty years ago, children with CF often didn’t live past elementary-school age. Now, thanks to medical advances, many more people with this disease are enjoying vibrant and productive adult lives. At Providence, specialists are helping them thrive with the newest cystic fibrosis screening methods and treatment.

Michael McCarthy, M.D. id a pediatric pulmonologist at the Providence Pediatric Pulmonology and Cystic Fibrosis Clinic in Spokane, Washington.Michael McCarthy, MD

“It’s exciting that, with proper treatment, many adults with CF can train for a career and have children,” says Michael McCarthy, M.D., a pediatric pulmonologist at the Providence Pediatric Pulmonology and Cystic Fibrosis Clinic in Spokane, Washington. “But even if they’re otherwise healthy, they can have frequent respiratory illnesses, such as bronchitis and pneumonia, and digestive problems. Some face liver problems.”

Causes and effects of CF

Cystic fibrosis is caused by copies of a defective gene that are passed down by both parents, and symptoms can appear as early as infancy. The disease hits all cells, especially those in the lungs and pancreas, resulting in too little salt and water on the outside of the cells.

In the lungs, the normally thin layer of mucus thickens, clogging airways and trapping bacteria. This leads to a stubborn cough, wheezing and shortness of breath, as well as infections and possible severe lung damage. Mucus buildup in the pancreas keeps digestive enzymes from being released, so the body can’t break down food and absorb nutrients.

These numbers tell more of the story about cystic fibrosis:

  • 30,000: The number of children and adults in the US with CF
  • 1,000: The number of US patients diagnosed annually
  • 4 months: The average age of CF diagnosis
  • 18: The average age people with CF lived to in 1980
  • 40½: The average age people with CF live to today

Providence experts at the ready

Dr. McCarthy says a team approach is needed to treat cystic fibrosis. “At Providence, we’re working hand in hand with physicians of various expertise for children and adults, as well as expert dietitians, respiratory therapists, nursing staff, pharmacists and social workers,” he says. “We’re instrumental and generous in providing the best model of care for all of our patients with CF.”

That care begins with neonatal screening, a blood test made available several years ago and now required for all babies born in the US. “If it shows a particular chemical released from the pancreas in abnormal amounts, that gives us a hint that CF is likely,” says Dr. McCarthy.

Early treatment crucial

Babies with a positive result or CF symptoms undergo what’s called a sweat test, a painless procedure that measures salt in the sweat. High levels signal cystic fibrosis. Depending on circumstances, genetic screening on a blood test may be done instead.

“The earlier the diagnosis, the sooner we can do intervention to restrain the lung condition, the better the prognosis. And now, a variety of new therapies dramatically improves the outcome for patients with CF,” says Dr. McCarthy.

Leading-edge therapies

Antibiotics have been used for more than 50 years in CF treatment, but the newest ones do a better job of clearing infected mucus secretion from the airways. Other drugs thin out mucus, helping to prevent inflammation in the lungs.

With home treatment, CF patients breathe in a mist of various medications. And for 20 minutes two times a day, they can slip on an inflatable vest that quickly vibrates against the chest to loosen the mucus.

While these methods tackle symptoms, researchers have been working to attack the underlying cause of cystic fibrosis. The most recent drug, ivacaftor, “makes a dramatic difference for about five percent of patients with a particular gene mutation,” says Dr. McCarthy. “Similar drugs are on the horizon for patients with more common mutations.”

Promising research

Also exciting in the past several years of CF research is gene therapy, which changes the defective gene inside a cell. “It’ll actually cure people of the disease,” says Dr. McCarthy. “It’s not available yet, but I’m confident it will be. We’re looking forward to rapid developments in CF therapies.”

Though new therapies are in development, Dr. McCarthy encourages those with cystic fibrosis to continue their current treatments. “It’s important for our patients to remain as healthy as possible from the tools we have now, so new treatments will be even more effective for them,” he says.

Questions about CF?

For more information about cystic fibrosis, contact a Providence health care provider in your area. Find one here.

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