What is Cystic Fibrosis?

Cystic Fibrosis is a genetic disorder that causes insistent lung infections and limits one’s ability to breathe over a period of time. Cystic Fibrosis predominantly effects the lungs, but also the liver, intestine, pancreas, and kidneys. In regards to individuals with Cystic Fibrosis, a defective gene leads to a thick accrual of mucus in the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps bacteria which causes infections, widespread lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb necessary nutrients.

Individuals with Cystic Fibrosis have two copies of the gene, one from each parent. This means that both parents must have at least one copy of the gene in order for it occur. Parents with one copy of the defective gene are typically called carriers, but don’t have the disease themselves. There is a 25% chance the child will have Cystic Fibrosis if both parents are carriers of the gene. The main signs of cystic fibrosis are salty skin, stunted growing, inability to gain weight despite normal food intake, constant chest infections, and shortness of breath. Despite these common symptoms, there are more than 1,700 known mutations of Cystic fibrosis, which can sometimes lead to test results indicating a person who is a carrier of the gene, is not a carrier.

If you would like to learn more about Cystic Fibrosis, check out www.cff.org.