Cystic fibrosis is a fatal genetic disorder that affects over 30,000
Americans. This disease is marked by chronic infections, clogged airways,
and digestive and reproductive problems.
In cystic fibrosis patients, problems occur because the mucus in their
lungs is very thick and sticky. Instead of serving as a lubricant, it
clogs the respiratory system and allows bacteria to grow within it,
impairing the body's natural defenses. The thick mucus also obstructs the
pancreas, preventing enzymes from reaching the intestines to digest food.
Cystic fibrosis occurs in roughly one of every 3,000 live births. To
contract the disease, a child must inherit a defective copy of the CF gene
from each parent. One in 20 Americans - more than 12 million - is an
unknowing, symptomless carrier of the disease.
Each time two CF gene carriers conceive a child, there is a 25-percent
chance the child will be born with the disease, a 50-percent chance that
the child will be a carrier, and a 25-percent chance that the child will
be a non-carrier.
Although cystic fibrosis is not yet curable, the good news is that the
situation is not hopeless. Each day since the cystic fibrosis gene was
discovered in 1989, the pace of CF research has greatly accelerated, and
scientists continue to find ways to help those who live with the disease.
These treatments include the use of tobramycin - a drug therapy for CF
approved by the Food and Drug Administration in 1997 - and experimental
gene therapy treatment.
The prognosis is encouraging: in the 1960s, children struck by the disease
were not expected to reach their eighth birthday; today, most have an
average lifespan of 30 years.
The disease, which is not contagious, usually is diagnosed in early
childhood. The most reliable diagnostic test is the "sweat test," aptly
named because most cystic fibrosis patients have skin that is salty to the
taste. Other common symptoms of CF include chronic cough and difficulty
breathing, frequent sinus and respiratory infections, nasal polyps,
excessive production of mucus, recurrent pneumonia, frequent foul smelling
stools and diarrhea, enlarged fingertips, and sterility in males.
The daily rigors of living with cystic fibrosis is tough both on the
children afflicted with the disease and on their families. Fortunately, a
combination of therapy and pharmaceuticals can help keep the symptoms
under control and enhance the child's quality of life. The long-term
treatment process includes: enzymes that help in digestion; high doses of
antibiotics during bacterial infections; daily therapy sessions that
include special exercises to loosen and promote drainage of the mucus;
other types of exercise to strengthen breathing and cardiovascular
function; proper nutrition and vitamins; and several inhalation treatments
each day to cut through the mucus.