Cystic fibrosis – what parents should know about it

Your child has Cystic Fibrosis or there is a suspicion of it. You are probably now unsettled and concerned. This information is intended to help you become familiar with this rare condition.

At a glance

In Germany, about 8,000 people live with this inborn error of metabolism. The glands in the body form a thick mucus. Organs such as the lungs or pancreas are permanently damaged by it. Signs can be: constant cough, shortness of breath, recurrent infections, underweight, abdominal pain, greasy stools, retarded growth.

Since 2016, testing for cystic fibrosis at newborn screening has been available. The so-called sweat test usually proves the disease.

Cystic fibrosis has no cure to date. Experts recommend lifelong care at a specialized cystic fibrosis facility because of the wide range of symptoms. Treatment options include: high calorie diet, inhalations, physical therapy, medications, exercise.

The disease

Cystic fibrosis – also Cystic fibrosis (Briefly: CF) – is a hereditary metabolic disease that persists throughout life. It is diagnosed in about 3300 newborns each year in Germany. The parents usually do not have the disease. In addition to the healthy hereditary disposition, they always carry the diseased one as well. If both parents pass on the diseased at the same time, the child gets cystic fibrosis. In purely mathematical terms, 1 in 4 children of parents with diseased hereditary factors is affected.

Normally, the glands in organs such as the lungs or pancreas produce thin mucus. Cystic fibrosis is different: the mucus is tough and sticky. It clogs the glands and stops draining. There is recurrent inflammation. The organs can no longer work properly.

Signs and symptoms

The signs of the disease vary from child to child. It is also impossible to predict how the disease will progress. Some newborns have intestinal blockage from sticky stool. Sometimes when kissing their child, parents notice that the sweat tastes saltier than usual. Most children develop abnormalities in the first few years of life. The children are often susceptible to infections. They are underweight, don’t grow as well, and are less able-bodied. Often they also have problems with digestion. In detail can occur:

    lungs and bronchial tubes: Constant cough, sputum, repeated respiratory infections, pneumonia

The disease progresses over time. With good treatment, many now reach adulthood and live to be 40 years and older. Fertility is reduced in women, but they can generally become pregnant. Males are often infertile. Cystic fibrosis does not affect the intelligence of those with the disease. It is also not contagious.

Investigations

Since the fall of 2016, experts have been recommending testing for cystic fibrosis in cases of Extended newborn screening. If the result is conspicuous, the so-called Sweat test, to detect cystic fibrosis. It should also be done in older children with suspected cystic fibrosis. In the sweat test, a drug that is usually applied to the forearm stimulates sweating. After about half an hour, the excessive salt content in the sweat can be reliably detected. If the salt level is elevated, the test is repeated for control purposes.

To confirm the diagnosis, your child’s blood can be tested for the altered genetic makeup. Sometimes doctors check the functions of the lungs and pancreas or the colonization with pathogens with further examinations.

Treatments

So far, the disease is not curable. Various treatments can relieve or delay symptoms. Starting treatment early can improve children’s physical development. This increases the prospect of a longer and healthier life. As a result, the life expectancy of patients with cystic fibrosis is steadily increasing.

The multiple health difficulties require lifelong and comprehensive care. Experts recommend care by a team of several specialists in a cystic fibrosis center. In spite of everything, the child should try to live and grow up as normally as possible.

Some treatments are given as needed. Many are used one or more times a day and are incorporated into daily life whenever possible:

    A high calorie diet with plenty of fat and protein as well as vitamins is important. At meals, drugs help to digest better.

What you can do yourself

  • Have your child cared for at a specialized cystic fibrosis facility. Take there training, counseling and control appointments.
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