WHAT IS CYSTIC FIBROSIS?

Cystic fibrosis (CF) is a genetic disease affecting approximately 30,000 children and adults in the United States. A defective gene causes the body to produce an abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. These thick secretions also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food. The mucus also can block the bile duct in the liver, eventually causing permanent liver damage.

The median age of survival for those with CF is 38 years old. There is no cure for this disease.

More than 10 million Americans are unknowing, symptomless carriers of the defective CF gene. An individual must inherit two defective CF genes-one from each parent-to have CF. Each time two carriers conceive, there is a 25 percent chance that their child will have CF; a 50 percent chance that the child will be a carrier of the CF gene; and a 25 percent chance that the child will be a non-carrier. CF occurs in approximately one of every 3,500 live births. About 1,000 new cases of CF are diagnosed each year. More than 80 percent of patients are diagnosed by age two; 50 percent of cases are age 18 or older today!

People with CF have a variety of symptoms including: very salty-tasting skin; persistent coughing, at times with phlegm; wheezing or shortness of breath; frequent lung infections: an excessive appetite but poor weight gain/growth; and greasy, bulky stools. Symptoms vary from person to person due, in part, to the more than 1,000 mutations of the CF gene.

The sweat test is the standard diagnostic test for CF. A sweat test should be performed at a CF Foundation-accredited care center where strict guidelines are followed to ensure accurate results. This simple and painless procedure measures the amount of salt in the sweat. A high salt level indicates CF.

The type and severity of CF symptoms can differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each individual’s unique circumstances. Each day, people with CF complete a combination of the following therapies:

Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs.

Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer and include antibiotics to fight lung infections and therapies to help keep the airways clear.

Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins.

An individualized fitness plan to help improve energy, lung function, and overall health

CFTR modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations.

According to the CF Foundation’s National Patient Registry, the median age of survival for a person with CF is in the late-30s. As more advances have been made in the treatment of CF, the number of adults with CF has steadily grown. Today, 50 percent of the CF population is age 18 and older. Adults, however, may experience additional health challenges including CF-related diabetes and osteoporosis. CF also can cause reproductive problems-more than 95 percent of men with CF are sterile. But, with new technologies, some are becoming fathers. Although many women with CF are able to conceive, limited lung function and other health factors may make it difficult to carry a child to term.

There are more than 115 CF Foundation-accredited care centers across the United States that specialize in the diagnosis of CF and provide care to people with the disease. Care center staff includes physicians, nurses, nutritionists, respiratory therapists, social workers, genetics counselors, and other medical professionals.
STAYING HEALTHY