I suffer from a terminal illness that has disabled me from normal functioning. The breakthrough was a trip to Germany, where I receive reimbursed life-saving drugs, allowing me to care for my daughter and play sports – says Cystic Fibrosis patient Robert Hellfeirer
When were you diagnosed with cystic fibrosis?
I have been suffering from cystic fibrosis since birth, and I was diagnosed at about eight months of age. By accident. Thanks to the help of a doctor, the parents received a referral to Zabrze hospital. In my case, the disease manifested itself from the digestive tract, through an abnormally functioning pancreas.
- Anxiety in my parents was caused by the fact that for the first months of my life I did not gain weight and practically every food I received as an infant “landed” undigested in diapers. In Zabrze I was treated in the gastroenterological clinic.
- In the 1980s, when I was born, very little was known about cystic fibrosis. It was really a disease of children, because they died of it precisely in childhood..
Why is it such a dangerous disease?
In a cystic fibrosis patient, the main problem is the respiratory system. As a result of a genetic defect, mucus, also called secretions, accumulates excessively in the patient’s lungs. In healthy people it does not cause problems, but in patients with cystic fibrosis yes. Over the years, this leads to the multiplication of dangerous to health bacteria, which are often resistant to antibiotics.
Excessive accumulation of dense wedding favors m.in. their development. Over the years, the patient’s lungs become more and more capable, more susceptible to infections and cease to function, ultimately leading to premature death of the patient.
How do you live with your illness now?
The last 2-3 years have been very hard. I often took antibiotics and practically every year I was hospitalized. All because there was too much phlegm accumulating in my lungs, which made it much more difficult for me to function normally. Climbing the stairs to the second floor of the apartment became a problem, I went out less and less and my physical activity decreased. I was just getting more and more infections..
Finally, my doctor decided that I will take the causal drugs Kaftrio and Kalydeco, which are available in Germany and refunded from September 2020. I have been taking these drugs since mid-December last year.
What is cystic fibrosis?
Cystic fibrosis (CF) is a genetic disease. It is caused by a mutation of the CFTR gene – located on the long arm of chromosome 7 and encoding a protein of the same name.
Cystic fibrosis is the most common genetic disease among humans. It is important that it belongs to diseases not only chronic, complex, but also systemic. In addition, as it progresses, dysfunction of various internal organs occurs.
Cystic fibrosis is mainly manifested by chronic bronchopulmonary disease and pancreatic enzymatic insufficiency, accompanied by digestive and absorption disorders. In addition, sweat glands secrete sweat with a significantly increased concentration of chlorine, as well as sodium. This is the so-called “salty sweat”.