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Cystic fibrosis is a disease with which patients in Poland live more than a decade shorter than in other EU countries. The reasons are problems with health care, especially outside of specialized centers for cystic fibrosis treatment, difficulties with access to rehabilitation, and the costs of treatment often exceeding the patient’s capabilities. For parents, the information that their child suffers from this disease sounds like a sentence.
The 20-year-old was hospitalized after breaking her spine in a physical education class. After the tests, to the surprise of the doctors, it turned out that he had osteoporosis. The truth, however, was more dramatic. Osteoporosis, which leads to bone fragility, was caused by a genetic disease called cystic fibrosis. Even 19 years ago, children suffering from it did not reach the age of majority. Currently, thanks to screening tests and specialist centers, many of them, despite their disease, study, start working, and start families. For XNUMX years, the Foundation for Help for Families and People with Cystic Fibrosis MATIO has been taking steps to educate and popularize knowledge about this disease.
Cystic fibrosis after diagnosis
Zosia is two years old. When she was one month old, her parents got a letter. They showed up at the hospital. From now on, they know their daughter has a genetic condition. They are looking for support because it is difficult to live with the knowledge that they passed on to her the gene that causes cystic fibrosis. They are only asymptomatic carriers. Their world has been different for two years.
Klaudia is 14 years old. Two years ago she was diagnosed with cystic fibrosis. Before, she had simply coughed, perhaps more often than others, she had had respiratory diseases. For two years she has known that her young life has an end, closer to that of other people. This awareness is hard to handle when you are a teenager.
Andrzej is 30 years old. From the age of 16, he knows that he is sick. He often stayed in the hospital, suffered from bronchitis and pneumonia. He was frail, pale, but – despite the diagnosis – he found the life force within himself. He has a 6-year-old daughter who is the carrier of the disease. He wants to live for her. He had a lung transplant. He has a chance.
– Cystic fibrosis, despite screening tests of newborns introduced for several years, is still surprising. Many of our pupils were diagnosed with her in their teenage years. But wherever it is, the world of the sick and their families changes every time. This is where the Foundation’s role becomes paramount. With us, people look primarily for support and common understanding to build their world anew, to live anew – says Paweł Wójtowicz, President of the MATIO Foundation.
Consequences of too sticky mucus
– Cystic fibrosis is most often confused with allergy and food intolerance – says Dr. Dorota Sands, specialist in lung diseases and allergology from the Institute of Mother and Child in Warsaw. – Symptoms include chronic and paroxysmal cough, as well as diarrhea. Before an accurate diagnosis is made, children are treated for recurrent bronchial infections or food intolerances. Due to the fact that the disease is rare, it is difficult for doctors to diagnose it. Until recently, the diagnosis was most often made in children between 3 and 5 years of age, and sometimes as late as 7 years of age.
Thanks to the introduction of screening tests for newborns, today it is diagnosed earlier. The test involves collecting a drop of blood from a child on a special tissue paper, which is transferred to the laboratory, where the markers of the disease are marked. Increased values indicate the suspicion of cystic fibrosis and are the basis for referral for additional verification tests. Diagnosing the disease in older children is based on measuring the level of chloride in the sweat. The final decisive test to confirm the diagnosis of cystic fibrosis is genetic testing. The sooner a child is diagnosed, the greater the chance of a better and longer life.
Cystic fibrosis in the lottery
A diagnosis of an incurable genetic disease is always a shock for parents, especially when neither of them is sick. The child inherits the disease from the parents who carry it, and most often they are unaware of it. It is only when the disease is found in their offspring that they find out that they have passed the defective gene to him. It is estimated that every 25th person carries the abnormal gene causing cystic fibrosis.
If the mother and father are carriers, their offspring have a 25% chance of developing the disease. If, on the other hand, one of the parents is a carrier, the chances of having a healthy child and a carrier are equal. If, on the other hand, one parent is sick and the other is healthy, then all children will be carriers but will not have cystic fibrosis. And when one parent is sick and the other is a carrier, 50 percent. children will inherit the disease, and 50 percent. may be carriers. The disease can be of varying severity. Some have mild symptoms and an almost normal life span, others are severe and die after a few years.
Mutant gen
The mutated gene causes the mucus to thicken abnormally in the bronchi, causing chronic inflammation. The mucus clogs the bronchi and bronchioles, making breathing difficult. It also clogs the bile ducts, which can lead to biliary cirrhosis of the liver. Mucus that is too thick is also produced in the pancreas, which prevents digestive enzymes from reaching the intestines. Food is not digested properly and completely. The absorption of fat-soluble vitamins, including vitamin D, is also impaired, which can lead to osteoporosis, characterized by brittle bones.
However, thanks to the use of appropriate drugs and modern equipment, life can be significantly extended. Lung transplantation can be a salvation for the most seriously ill. The first such operation in Poland took place in 2011. Doctors from the Silesian Center for Heart Diseases in Zabrze transplanted the lungs of a 30-year-old patient. The demand for lung transplants in cystic fibrosis in Poland is estimated at about 10-15 operations per year. Currently, lung transplantation in Poland is performed in Zabrze and Szczecin.
Extend the life of people with cystic fibrosis
Patients with cystic fibrosis are administered medications to liquefy bronchial secretions. If pancreatic insufficiency is diagnosed, the patient must take enzyme preparations and vitamins (A, D, E and K) to properly digest and absorb fats and proteins. Moreover, patients should undergo physiotherapy treatments every day. Unfortunately, the average survival time, estimated at around 40 years in the world, is 10 years shorter in Poland, because we have poorer access to modern treatment.
As part of the social campaign, the 23th National Cystic Fibrosis Week, a number of information and educational activities have been planned. In 9.00 medical centers all over Poland it will be possible to take advantage of free telephone medical consultations. The full list of centers participating in the action is available at www.mukowiscydoza.pl. At the headquarters of the MATIO Foundation from 21.00 – 12 the telephone number (292) 31 80 XNUMX and the e-mail address will be open: [email protected]where you will be able to obtain the necessary information. Thanks to the cooperation with the MEDGEN company, interested parties will be able to perform a genetic test – entries under the telephone number 512 40 90 90. The first 50 people will be able to perform the test free of charge after entering the password: Fundacja MATIO. Details on www.mukowiscydoza.pl