Cystic Fibrosis Sweat Test
• What Is Cystic Fibrosis?
|What Is Cystic Fibrosis?
It is a deadly genetic disorder that is passed down through families. People with the disease have a defective gene which causes the body to produce unusually thick sticky mucus that clogs the lungs and pancreas and promotes bacterial infections. The average life expectancy for someone with cystic fibrosis (CF) today is late 30s. This is a considerable improvement since the 1950s when few children with CF even made it to elementary school age. Most children with CF are diagnosed by the age of 2 although a small minority is not diagnosed until 18 or older (usually because they have a milder form of the disease).
CF is caused by a defective gene which is inherited from the parents. Millions of Americans carry the defective CF gene but they never develop symptoms. That is because - to have CF you must inherit 2 defective genes - one from each of your parents. Whites are more likely to carry defective genes (1 in 25) compared to Hispanics (1 in 45), African Americans (1 in 60) and Asians (1 in 150).
The symptoms can vary from person to person, but include:
What It Does Mean: Living With Cystic Fibrosis
Early diagnosis and treatment of CF can considerably improve both survival and quality of life. Continual follow-up and monitoring is very important. Ideally patients should be cared for at specialty CF clinics. Antibiotics are taken to treat lung infections, and other therapies (such as TheraPEP device, manual chest percussion, Percussion Vest and A-capella) can help thin mucus to make coughing it up easier. The flu vaccine and pneumococcal polysaccharide vaccine (PPV) will be given every year. If lung disease worsens, oxygen therapy may be required. Nutritional and bowel problems are treated with a special diet (high in protein and calories), vitamin supplements and pancreatic enzymes.
Lung disease eventually incapacitates patients. Death is usually caused by lung complications. The average life span of CF people who live to adulthood is 37 years. Other complications include:
No, there is no way to prevent CF. Screening for CF in those with a family history of the disease may detect the CF gene in 60 to 90 percent of cases, depending on which test is used.
New genetic tests are available that allow couples at risk to see if one or both are carriers of the CF gene before conception. Although there are different types of tests, all involve taking a blood sample so that chromosomes can be analyzed. A genetic counselor will talk parents through the process. If both parents are carriers, the risk of the child developing CF is 1 in 4. The tests can identify up to 90 percent of carriers, but there are still a portion of carriers who will not be identified (10 percent). This means if one parent is a known carrier, there is a very small chance the other parent is too and that the offspring will be affected. Should a pregnancy occur, amniocentesis or chorionic villus sampling can screen the baby for CF and other conditions like Down syndrome. High risk couples who would consider an abortion may opt for CVS, even though it has a slightly higher risk of miscarriage than an amniocentesis. This is because the CVS can be performed sooner (as early as 10 to 13 weeks) when a termination is somewhat easier. Particularly high risk couples may consider IVF and pre-implantation genetic diagnosis (PGD). A single cell is extracted from the embryo and tested for signs of CF before it is implanted in the mother.
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For more advice, see the following:
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