A genetic disease that is not limited to the Ashkenazi Jewish population is cystic fibrosis (CF). This disease affects about 30,000 children and adults in the United States; one in 31 Americans (one in 28 Caucasians) carries a defective gene for the disease. CF makes your body produce an abnormally thick, sticky mucus. This is what happens when cells in the lungs and pancreas fail to transport salt in the body where it needs to go. The thick CF mucus also blocks digestive enzymes from reaching the intestines where they’re suppose to break down and digest food.

CF has a variety of symptoms. The most common are: very salty-tasting skin; persistent coughing, wheezing or pneumonia; excessive appetite but poor weight gain; and bulky stools. The standard diagnostic test for cystic fibrosis measures the amount of salt in a person’s sweat. A high salt level indicates that a person has CF.

An individual must inherit two copies of the defective gene (one from each parent) to develop cystic fibrosis. When two carriers conceive a child, there is a 25 percent chance the child will have CF, a 50 percent chance the child will be a carrier and a 25 percent chance that the child will NOT be a carrier nor be affected.

CF is not yet curable, but in recent years, researchers have learned a great deal about the CF gene and have developed many new treatments. CF treatment depends on how advanced the disease is and what organs it affects. Chest physical therapy, antibiotics, inhalation treatments, and enriched diets are few of many treatment options.

Screening for CF is available at Albert Einstein Medical Center, to schedule an appointment, call 1-800-EINSTEIN.