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.
- 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 3,200 live Caucasian births (in
one of every 3,900 live births of all Americans). About 1,000 new cases of
CF are diagnosed each year. More than 80 percent of patients are diagnosed
by age three; however, nearly 10 percent of newly diagnosed cases are age
18 or older.
- People with CF have a variety of symptoms including: very salty-tasting
skin; persistent coughing, at times with phlegm; wheezing or shortness of
breath; an excessive appetite but poor weight gain; 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 treatment of CF depends upon the stage of the disease and the organs
involved. Clearing mucus from the lungs is an important part of the daily
CF treatment regimen. Chest physical therapy is a form of airway clearance
done by vigorous clapping on the back and chest to dislodge the thick mucus
from the lungs. Other types of treatments include TOBI® (tobramycin
solution for inhalation), an aerosolized antibiotic used to treat lung infections;
Pulmozyme®, a mucus-thinning drug shown to reduce the number of lung
infections and improve lung function; and azithromycin, an antibiotic recently
proven to be effective in people with CF whose lungs are chronically infected
with the common Pseudomonas aeruginosa bacteria.
- According to the CF Foundation's National Patient Registry, the median
age of survival for a person with CF is 33.4 years. As more advances have
been made in the treatment of CF, the number of adults with CF has steadily grown.
Today, nearly 40 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 117 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 include physicians, nurses, nutritionists, respiratory
therapists, social workers, genetics counselors, and other medical professionals.
- The mission of the CF Foundation is to assure the development of the means
to cure and control CF and to improve the quality of life for those with
the disease. It funds medical research and care programs which are improving
the length and quality of life for people with CF.
