Cystic Fibrosis

This chronic, inherited disease affects the mucus-producing glands of the body and severely impairs the digestive and respiratory system. It affects approximately one in 2,000 white newborns but is rare in black and Asian chidren. In recent years, early diagnosis and improved treatments have increased the life expectancy of children with cystic fibrosis. The course of the disease varies widely, with some children suffering chronic but manageable symptoms and others developing life-threatening complications.

In 1989, researchers isolated the abnormal gene responsible for cystic fibrosis.

WHAT CAUSES CYSTIC FIBROSIS?
Cystic fibrosis is a genetic disorder. If both parents are carriers of the defective cystic fibrosis gene, their child has a 25 percent chance of inheriting both those genes and developing the disease. If only one abnormal gene is inherited (that is, from only one parent), the child will not have symptoms of the disease but will be capable of passing on the defective gene to the next generation. One in 40 whites are healthy carriers of the cystic fibrosis gene.

HOW DOES CYSTIC FIBROSIS DEVELOP?
Most of the symptoms of cystic fibrosis are caused by a malfunction of the mucus producing glands. Instead of producing thin, free-flowing secretions, the glands secrete thick, sticky mucus that blocks small passages in such organs as the pancreas and lungs, interfering with digestion and respiration and resulting in malnutrition, as well as frequent bouts of bronchitis, pneumonia and other respiratory illnesses.

WHEN SHOULD I SUSPECT THAT MY CHILD HAS CYSTIC FIBROSIS?
If you have a family history of cystic fibrosis, don't wait for signs or symptoms. Genetic testing is now available to identify carriers of the disease. However, in the absence of a family history and genetic testing, the diagnosis may be difficult. In a newborn, intestinal obstruction due to retained meconium (the substance that fills the large intestine before birth) is often the first sign of cystic fibrosis.

At first, a baby with cystic fibrosis may be small for his age and have a tendency to catch colds easily. In time, the baby will begin to lose weight despite a voracious appetite. Because the pancreas malfunctions, undigested food is excreted in large, foul-smelling, frothy stools.

Most children with cystic fibrosis develop respiratory symptoms before the age of one, leading eventually to frequent and severe bacterial respiratory infections like pneumonia and bronchitis.

WHAT TREATMENTS ARE AVAILABLE?
Standard treatment includes preventive treatment with antibiotics (prophylaxis) to prevent lung infections, twice-daily "postural drainage" (pounding on the back and chest) to loosen and expel phlegm, and dietary supplements of pancreatic enzymes in powder or capsule form to assist fat digestion. Treatment methods are rapidly improving, and several new, still-experimental drugs show great promise. Combined heart and lung transplants have also greatly benefited some patients. In addition, researchers are experimenting with gene therapy. Already, attempts to transfer a healthy copy of the cystic fibrosis gene to the lungs of mice have been successful. Experiments with gene therapy in humans should soon be underway.

COPING WITH CYSTIC FIBROSIS?
A diagnosis of cystic fibrosis can seem overwhelming to parents. Reaching out to others by joining a support group can help families deal with the stresses and demands of this disease.

Genetic counseling also will be helpful to parents of a child with cystic fibrosis who are considering another pregnancy.

GETTING HELP
Call your doctor if your child:

• Fails to grow and gain weight despite having a healthy appetite

• Passes pale-colored, abnormally large stools

• Has a chronic cough or chronic diarrhea

• Develops frequent, severe respiratory infections

• Is tired and short of breath after minimal exertion

Excerpt from THE DISNEY ENCYCLOPEDIA OF BABY & CHILD CARE, © 1995 DSH Communications, Inc. This material is based on current medical research and, to the best of the editors' knowledge and understanding, is accurate and valid. However the reader should not use information contained in this material to alter a medically prescribed regimen or as a form of self-treatment, without seeking the advice of a licensed physician.