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What is cystic fibrosis?

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Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). Approximately 1 of 31 Americans are carriers of the gene and it takes 2 carries to come together to have the potential for a child to be born with CF.

A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:
  • clogs the lungs and leads to life-threatening lung infections; and
  • obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.
In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with                                                                                            CF. Many people with the disease can now expect to live into their 30s, 40s and beyond.
Symptoms of Cystic Fibrosis
People with CF can have a variety of symptoms, including:
  • very salty-tasting skin;
  • persistent coughing, at times with phlegm;
  • frequent lung infections;
  • wheezing or shortness of breath;
  • poor growth/weight gain in spite of a good appetite; and
  • frequent greasy, bulky stools or difficulty in bowel movements.
Statistics
  • About 1,000 new cases of cystic fibrosis are diagnosed each year.
  • More than 70% of patients are diagnosed by age two.
  • More than 45% of the CF patient population is age 18 or older.
  • The predicted median age of survival for a person with CF is in the early 40s.
The Cystic Fibrosis Foundation
Since 1955, the Cystic Fibrosis Foundation has been the driving force behind the pursuit of a cure. Thanks to the dedication and financial backing of our supporters — patients, families and friends, clinicians, researchers, volunteers, individual donors, corporations and staff, we are making a difference.
How do people get CF?
Cystic fibrosis is a genetic disease. People inherit CF from their parents through genes, which also determine many other characteristics, including height, hair color and eye color.
CF is caused by mutations in a gene that produces a protein, called CFTR. The CFTR protein controls the flow of salt and water in and out of the cells of organs like the lungs and pancreas.
To have cystic fibrosis, a person must inherit two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene.
People with only one copy of the defective CF gene are called carriers, but they do not have the disease themselves. Each time two CF carriers have a child, the chances are:
  • 25 percent (1 in 4) the child will have CF
  • 50 percent (1 in 2) the child will be a carrier but will not have CF
  • 25 percent (1 in 4) the child will not be a carrier and will not have CF
There are more than 1,800 known mutations of the CF gene. Because there are so many, most genetic tests only screen for the most common mutations.

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Is there a cure for CF?
Currently, there is no cure for CF. However, specialized medical care, aggressive drug treatments and therapies, along with proper CF nutrition, can significantly lengthen and improve the quality of life for those with CF.


What is the life expectancy for people with CF?
It is not possible to accurately predict how long a person who has CF will live. Many different factors — for example, severity of disease and age at diagnosis — can affect an individual’s health and the course of the disease. Recent research has shown that the severity of CF symptoms is based partly on the type of CF gene mutations a person has.
In the 1950s, children with CF were not expected to live long enough to attend elementary school. Today, approximately half of all people with CF in the United States are 18 years or older. The steady “aging” of the CF population reflects the remarkable progress that has been made in understanding and treating CF. 


Text information taken from www.CFF.org
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