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Patient Question

What is Cystic Fibrosis?

Catherine Kier, MD

Catherine Kier, MD

Director, Cystic Fibrosis Center
Department of Pediatrics
Division of Pulmonology, Allergy & Immunology
Expert Answer

Cystic fibrosis (CF) is an inherited, chronic disease caused by a defective gene that affects the lungs and digestive system. The defective gene causes the body to produce thick, sticky mucus that clogs the lungs, which causes infection and respiratory ailments and obstructs the pancreas, blocking the production of important digestive enzymes that help the body break down and absorb food.

How is CF diagnosed?
New York State has mandatory CF testing for newborns. Babies are tested for elevated blood levels of a specific pancreatic enzyme (IRT). If there is an elevated finding, the baby is then tested for the CF gene mutation. If the baby has one mutation, he or she is a carrier; two mutations means the child has the disease. If a CF-related mutation is found, the child's siblings should be tested.

How is CF diagnosed?
Is the newborn test definitive? CF is a complicated disease with a variety of manifestations. Not all cases are caught at birth. Clinical symptoms, which include chronic cough, wheezing, and recurring persistent respiratory infections typically appear during the first few years of life but may not appear until later. It's important that if a physician sees clinical manifestations, even in a state with mandatory testing, the doctor should order a sweat test.

What happens when a child is diagnosed with CF at Stony Brook?
We immediately call the parents and the primary physician. We then set up a formal family meeting with the entire CF team to determine the course of treatment.

What's the advantage of being close to a Cystic Fibrosis Center?
Some parents feel they need to seek treatment at large city hospitals. Within New York State, there is a consortium of hospitals that share information and ideas. It's a wrong notion that one center is better than another. However, coping with a chronic illness is stressful and demanding. A long commute for required regular checkups adds to the stress, which affects both the parents and the child.

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