What is cystic fibrosis?
Cystic fibrosis (CF) is a disease that changes the secretions of certain glands in the body. It is inherited from parents who carry the gene that cause this disease. For a child to get cystic fibrosis, both parents must be carriers of the gene that causes it. Although the sweat glands and the glandular cells of the lungs and pancreas are affected most often, the sinuses, liver, intestines, and reproductive organs also can be involved.
Great progress has been made in treating this disease and its symptoms, but there is still no cure. However, children with CF are living longer, thanks to the scientific progress that has occurred.
Who Gets CF?
For a child to get cystic fibrosis, both parents must be carriers of the gene that causes it. In the United States, CF is most common in the Caucasian population, where 1 out of every 20 people is a carrier, and 1 of every 2,000 to 3,000 Caucasian babies have CF. The disease is much less common in African Americans (1 in 17,000 live births) and Hispanics (1 in 11,500 live births), and even rarer among Asians.
About 60,000 children and adults worldwide have been diagnosed with CF; approximately half of them (30,000) are in North America. In 1989 researchers discovered the gene that causes CF. Couples planning to have children can undergo genetic testing and counseling to find out if they are carrying the CF gene.
Signs and Symptoms
The majority of CF cases are diagnosed within the first two years of life; in many states, newborn screenings now include mandatory testing for CF. (CF can be diagnosed even before the baby is born with genetic testing as well as through detection of an abnormality found on an ultrasound in the later stages of pregnancy). Your pediatrician may suspect CF if your child is failing to gain weight, which often accompanies this disease. Other signs and symptoms vary with the degree of the involvement of organs like the lungs.
More than half of the cases of CF are diagnosed because of repeated lung infections. These infections tend to recur because mucus in the airways is thicker than normal and more difficult to cough out. A child with CF is likely to have a persistent cough that gets worse with colds. Since the secretions of the lungs remain in the airways longer than normal, the airways are more likely to become infected, increasing the chances of pneumonia or bronchitis. Over time, these lung infections cause damage to the lungs, and are the major cause of death in CF. Diabetes and chronic liver disease are other complications that may occur in children with CF.
Most children with CF are deficient in digestive enzymes, making it difficult for them to digest fats and proteins as well as they should. As a result, these children have large, bulky, foul-smelling stools. Loose stools may result from an inability to digest formula or food, and are one of the causes of the child’s failure to gain weight.
To confirm the diagnosis, your pediatrician will order a sweat test to measure the amount of salt your child loses as he perspires. Children with cystic fibrosis have much more salt in their sweat than do children who do not have CF. Two or more of these tests may be required to ensure an accurate 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 CF’s lung infections is the most important aspect of your child’s care. The goal is to help clear the thick secretions from your youngster’s lungs, which may involve various techniques that help him cough out the sputum more easily. The lung infections themselves are treated with antibiotics. Periods in which the lung infections worsen are called exacerbations, which are associated with more coughing and sputum production, and may require treatment with the use of intravenous antibiotics.
To treat the lack of digestive enzymes in CF, your child will be prescribed capsules containing enzymes to be taken with every meal and every snack. The amount of enzymes is based on the level of fat in the diet and the weight of your child. Once the correct amount of enzymes is taken, your youngster’s stool pattern will become more normal and he’ll begin gaining more weight. He also will need to take supplemental vitamins.
Emotional Burden of CF
Because CF is a hereditary disease, many parents feel guilty about their child’s illness. However, CF is a genetic disease that is no one’s fault, so there’s no reason to blame anyone. Instead, you should channel your emotional energies into your child’s treatment.
It is important to raise your child as you would if he did not have this disease. There is no reason to limit his educational or career goals. The majority of children with CF can expect to grow up and lead productive adult lives. Your child needs both love and discipline, and should be encouraged to develop and test his limits.
Balancing the physical and emotional demands created by this disease is hard on both the CF patient and his 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. The Cystic Fibrosis Foundation also can be of help.