Cystic Fibrosis in Children

This information is useful for children
Why Yale Medicine?
  • Our Cystic Fibrosis Program, one of just two in Connecticut, brings together experts across multiple fields.
  • Visits are coordinated so families meet with multiple specialists in one day, at the same visit.
  • Our Buddy Program pairs cystic fibrosis patients with medical students for personalized support.

Because newborns across the United States are now screened for cystic fibrosis soon after they’re born, the condition is being diagnosed and treated earlier. Partially as a result of improved screening and early detection, and also because there are new and more effective treatments,  many children with cystic fibrosis are now living longer, healthier lives. 

“We now identify children before they become symptomatic,” says Marie E. Egan, MD, director of Yale Medicine's Cystic Fibrosis Program and a professor of pediatrics (respiratory) and of cellular and molecular physiology at Yale School of Medicine. “They do better in the long run if we can diagnose them before they get into trouble.” 

This genetic disorder, which primarily affects the respiratory, digestive and reproductive systems, can keep organs and systems from functioning properly and can lead to many complications.  In the past, children may not have lived to their 20s, but now if the condition is well managed, they are living into their 50s.

Our Cystic Fibrosis Program at Yale Medicine is one of only two such dedicated programs in the state. We bring together a team of various specialists to offer the most comprehensive care to our patients.

Cystic fibrosis is a genetic disorder. A child who has cystic fibrosis has received a mutated cystic fibrosis transmembrane conductance regulator (CFTR) gene from both parents.

“It’s what we call an autosomal recessive disorder, which means you have to inherit a copy of the gene that contains an error from both your mother and your father,” Dr. Egan says. “Most people say, ‘This doesn’t run in my family, so there’s no way my child could have it.’ But one in 25 people walking around, completely normal and with no symptoms, carry one copy of this gene that contains a mutation. It’s very common.”

When two carriers of the defective gene have a child, there’s a 25 percent chance their child will have cystic fibrosis. One mutation in particular causes 85 percent of all cases of cystic fibrosis, though there may be as many as 2,000 different mutations in the gene that can cause the disease. Though cystic fibrosis is most common in the Caucasian population, where it occurs in one out of every 2,500 live births, the disease occurs in people of almost all racial backgrounds.

Clinical Trials

New treatments for many conditions are tested in clinical trials, which ultimately bring lifesaving new drugs and devices to the patients who need them most. By participating in a clinical trial, you may get access to the most advanced treatments for your condition, and help determine their benefits for future patients.