Life with cystic fibrosis is anything but "normal"

Since 2016, cystic fibrosis is most often detected in the first few weeks after a child's birth, because since then cystic fibrosis has been routinely screened for in newborn screening. A positive finding is subsequently confirmed with a sweat test. A child's diagnosis is life-changing for the entire family. "Shock, despair, and feelings of being overwhelmed are what many families go through when they receive a cystic fibrosis diagnosis." Because of the time-consuming treatment required, the low life expectancy, the frequent digestive problems and shortness of breath, and the constant risk of the disease worsening, the life of a cystic fibrosis patient is different from "normal," as one patient describes: "No matter how happy and beautiful a moment is, death is always in a corner of the room, and I can see it."

Cystic fibrosis is a metabolic disease caused by a congenital mutation in the so-called cystic fibrosis gene, the "Cystic Fibrosis Transmembrane Conductance Regulator gene" (CFTR gene). The CFTR gene codes for a protein that acts as a channel on the surface of some cells. This channel serves to allow salt and water to flow into the cells. When the channels are defective, there is an imbalance in the salt-water ratio of the cell, which then causes the mucus covering a cell to contain too little water and become tough. The CFTR channel is not expressed in all cells, which is why only certain organs are affected, such as the lungs, gall bladder or pancreas. The disease only occurs when both CFTR genes are affected, which is why unrecognized trait carriers can pass on the mutation.

About 2,000 different mutations of the CFTR gene are now known, resulting in different types of defects based on which patients are divided into groups. The mutation may result in no channel at all, the channel may have a defect and therefore be degraded by the cell's control mechanisms, defective CFTR channels may be inserted, or the channels may be degraded prematurely even without a defect. However, the consequence is always the same: More salt remains inside the cell than outside, which is why more water is extracted from the cell surface and flows into the cell. As a result, the fluid film outside the cell, which is very important for the function of the affected organs, is drier and more viscous than that of healthy people. This tough mucus is characteristic of cystic fibrosis patients, which manifests itself in various symptoms. Most of those affected suffer primarily from dysfunctions of the respiratory tract, digestive systems, and a high loss of salt through sweat. In concrete terms, this means that sufferers must cough constantly, frequently experience shortness of breath and have difficulty digesting their food. Patients often suffer from abdominal pain, constipation and severe underweight.

Until 2012, patients could be treated purely symptomatically. Taking digestive enzymes with every meal in conjunction with targeted nutritional therapy helps to combat the digestive difficulties. Inhalation therapy and physical therapy are used to treat the respiratory problems. Intestinal obstructions, recurrent infections and pneumonia are everyday hazards for the cystic fibrosis patient. If the damage to the lungs is too severe, transplantation must be considered as a therapy.

Fortunately, since 2012, the first CFTR modulator have been approved to improve the salt-water balance. In the meantime, four drugs are already on the market in Germany, but these only work for certain types of mutations and are not approved for every age group. In order to be able to treat the disease cause of all 8,000 cystic fibrosis patients living in Germany, further drugs are necessary. Therefore, despite existing therapies and well-established diagnostic pathways, it is necessary to increase awareness of rare diseases such as cystic fibrosis.

Sources:

Pari: Leben mit Mukoviszidose - Nicht normal, sondern außergewöhnlich und teils positiver

Pari: Mein Kind hat Mukoviszidose - Wie Eltern mit der Diagnose umgehen

Mukoviszidose e.V. - Welche Symptome können bei Mukoviszidose / Cystischer Fibrose auftreten?