Q & A

NJSOCF Questions and Answers

What is Cystic Fibrosis?

Cystic fibrosis is the most common genetic disorder in the United States, with one in every 25 Caucasian individuals carrying the defective recessive gene. Other racial groups have a lower incidence. In New Jersey alone there are at least 1000 individuals with the disease. CF affects the lungs, clogging them with thick, sticky mucus. This causes severe damage to airways, resulting in chronic coughing and respiratory infection. The disease also adversely affects the digestive system, blocking the release of vital pancreatic enzymes needed for the absorption of food.

How is it diagnosed?

Diagnosis of the disease can now be made in newborns using a routine blood test. In New Jersey, every baby born is now screened for the disease at birth. If the disease is detected, the family is referred for further evaluation and testing. If neonatal screening has not been performed, children with CF can be diagnosed with a simple “sweat test.” Individuals may carry the CF gene without having the symptoms. Carriers can be identified through genetic testing.

What are the symptoms?

Because individuals with CF generally have abnormal function of the pancreas (a gland that produces enzymes needed for proper digestion), failure to gain weight, diarrhea, and bowel obstruction are common problems seen in children. Fats are not well digested and the presence of foul-smelling, oily bowel movements is often an early indicator of the disease. CF can also affect the lungs early in life. Recurrent lung infections, constant coughing, and even pneumonia are other ways that CF can be recognized in children. CF patients are often pale, thin, small in stature, and may have a barrel shaped chest.

How is CF treated?

Although there is no known cure for CF, proper therapy, started in early childhood and maintained through life, can keep the disease under control, minimizing lung damage, maximizing weight gain, and making a productive life possible. CF varies greatly in severity from person to person, so treatment must be tailored to the individual. Therapy is most frequently aimed at reducing bronchial obstruction and lung infection through a regimen of postural drainage, aerosols and antibiotics. Enzyme therapy is used for digestive inefficiency along with nutritional supplements and extra nutritious foods. Additional salt is also usually required to compensate for excessive salt loss in CF patients, especially during warm weather or after exercise.

Do CF patients need to limit their activities?

Today, thanks to many advances in treatment, the answer to this is “no.” Children should go to school and participate in all normal activities. Adults should complete their education and join the work force. Many patients with CF now live well into their 30’s and even beyond. With proper management of the disease, a productive life is well within reach.