Q: What is cystic fibrosis?
A: Cystic fibrosis is a lifelong illness that causes the body to produce thick and dry mucus, which lines the surfaces of internal organs. This affects the function of the lungs, pancreas and reproductive system, commonly leading to pneumonia, diarrhea, or infertility. While severely afflicted individuals die in childhood, the average lifespan for someone with cystic fibrosis is around 30 years. Although there is still no cure for the disease, treatment options have improved greatly. Generally, treatment involves the use of nutritional therapies and antibiotics for the respiratory and digestive problems associated with cystic fibrosis.
Q: What are the symptoms of cystic fibrosis?
A: Symptoms of cystic fibrosis vary from person to person. Physical problems are not always present at birth and may develop later in childhood or in early adulthood. Initial symptoms may be so mild that they do not appear to be serious. But as further problems develop, there might be concern for an underlying illness. Often the first sign of cystic fibrosis in a newborn is a blockage of the small intestine. Other symptoms include:
- Salty sweat or skin
- Poor appetite, lack of energy and weight loss
- Persistent diarrhea or fatty stools
- Difficulty breathing
- Persistent cough
Q: What causes cystic fibrosis?
A: Cystic fibrosis is a genetic disorder and one of the most commonly inherited diseases in the United States. The disease develops when a newborn child inherits an altered gene from each parent. Cystic fibrosis is not contagious and cannot be passed from one person to another.
Q: Who is affected by cystic fibrosis?
A: Cystic fibrosis is most commonly found in Caucasians, especially those with a northern or western European ancestry. People of other ethnic backgrounds may also develop this disease, but less frequently. The rates of incidence of cystic fibrosis in infant populations are as follows:
- 1 in every 3,300 Caucasians
- 1 in every 9,500 Hispanics
- 1 in every 15,300 African-Americans
- 1 in every 32,100 Asian-Americans
Q: Who should have cystic fibrosis carrier screening?
A: Carrier screening for cystic fibrosis is offered to all couples that are expecting a child or planning a pregnancy. Individuals who have cystic fibrosis or who have a family history of the disease should include carrier screening in their prenatal testing. Couples who already have a child with cystic fibrosis should also be tested. The accuracy of the prenatal screening is at its greatest when both parents are tested.
Q: Can I be a cystic fibrosis carrier and not have the disease?
A: Yes. Individuals who inherit one altered gene and one normal gene from their parents, are considered cystic fibrosis carriers because they carry the gene but do not have the disease. In order to get the illness, a child must inherit one altered gene from each parent. A child cannot get cystic fibrosis when only one parent is a carrier.
Q: Will insurance cover the cost of cystic fibrosis carrier screening?
A: Coverage will vary depending on your health plan or insurance. You should contact your health plan administrator for further information.
A: If the test results revealed that you are a carrier, the results are final and will not change. However, if you have a new partner and are planning a pregnancy, your partner should also be tested. You are advised to discuss cystic fibrosis screening with your health care provider as a routine part of your prenatal checkup.