CYSTIC FIBROSIS

Cystic fibrosis (CF) is an inherited disease that changes the secretions of certain glands in the body. The sweat glands and the glandular cells of the lungs and pancreas are most often affected, but the sinuses, liver, intestines and reproductive organs also can be involved. Although we have made great progress in treating this disease and its symptoms, there is still no cure. Children with cystic fibrosis now live much longer than previously.

For a child to get cystic fibrosis, both parents must be carriers of the gene that causes it. In the United States, one out of every 20 Caucasian people is a carrier of the CF gene, and approximately one out of every 1,600 Caucasian babies is born with the disease. The illness is much less common in the African-American population (one in every 17,000 live births) and even rarer among Asian Americans.

In the last few years, a genetic abnormality has been detected in many cystic fibrosis patients, with other gene mutations being found as more research is done. We are developing the capability to screen the population at large effectively for CF, and genetic screening and counseling is available for those with a family member with CF. Since the disease is usually fatal, this should be an important consideration for high-risk families.

Signs and Symptoms of Cystic Fibrosis

In children with CF, the disease is not usually obvious at birth or at a very young age. The symptoms vary, depending on the severity of the particular case and the organs that are involved. Some of this has been related to the amount of mutation of the most common genetic abnormality. However, all children with CF excrete excessive amounts of salt in their sweat. This may cause salt crystals to appear on their skin and gives them a salty taste when you kiss them.

CF often (though not always) seriously affects the lungs, causing mucus in the airways to be thicker than normal and more difficult to cough out. A child with CF is likely to have a persistent cough, which gets worse with colds. Since the lungs' secretions remain in the airways for longer than normal, the airways are more likely to become infected, increasing the chances of pneumonia or bronchitis.

Many children with CF are deficient in the pancreatic enzymes that help to digest food. As a result, they cannot digest fats and proteins as well as they should, which results in large, bulky foul-smelling stools. These children grow more slowly than normal and are underweight.

You should suspect cystic fibrosis and call your pediatrician if your child has frequent pneumonia, bulky, foul-smelling stools, or fails to grow or gain normally. The doctor will order a sweat test to measure the amount of salt your child loses as she perspires. Children with cystic fibrosis excrete large quantities of salt in this manner.

Two or more tests may be required to confirm the diagnosis, since the results are not always clearly positive or negative. If your child is diagnosed as having the disease, your pediatrician will help you get the additional specialized medical help that is necessary.

Treatment of Cystic Fibrosis

The treatment of cystic fibrosis depends upon which body system is involved with the disease (skin, lungs, digestive tract) and the severity of that involvement. In general, the goals are to:

1. Reduce secretions from the lungs

2. Replace missing or insufficient digestive enzymes

3. Reduce or replace salt loss

4. Treat promptly and vigorously the infections of the lungs that occur more frequently in these children

Coping with Cystic Fibrosis

Because CF is a hereditary disease, many parents feel very guilty about their child's illness. But this problem is not anyone's fault, so you should channel your emotional energies into your child's treatment instead. Work closely with the doctors and therapists, and do not be fooled by publicized "breakthroughs" or "guaranteed cures." If you hear of a new therapy, ask your pediatrician or CF center before spending money or trying it.

It also is important to raise your child as you would if she did not have this illness. There is no reason to limit her educational or career goals. Many CF patients grow up to lead productive adult lives. Your child needs both love and discipline, and she should be encouraged to develop and test her limits.

Balancing the physical and emotional demands created by this disease is hard on both the CF patient and her family, so it is very important that you get as much support as possible. Ask your pediatrician to put you in touch with the nearest CF center and CF support groups.