Symptoms of cystic fibrosis - an incurable genetic disease - are not always properly read by doctors - and too late diagnosis significantly reduces the quality and life expectancy of patients. What are the symptoms of cystic fibrosis?
Cystic fibrosisis an incurable diseasegenetic disease . It is estimated that around 1,500 people in Poland suffer from it (according to the data for every 2,500 newborns, one is born sick). Cystic fibrosis is caused by a mutation in the cystic fibrosis transmembrane regulator (CFTR) gene. The disease manifests itself in people who have inherited abnormal genes from both parents. The disorder leads to the accumulation of thick, sticky mucus, especially in the respiratory system and in the ducts carrying enzymes from the pancreas to the gastrointestinal tract. Cystic fibrosis is a systemic disease, hence it manifests itself, inter alia, in disturbances in the functioning of the respiratory and digestive systems, infertility and the occurrence of an increased concentration of chloride in sweat.
Respiratory symptoms of cystic fibrosis
They appear in over 90% of sick:
- thick and sticky mucus that remains in the bronchi and is a breeding ground for bacteria
- there is a troublesome cough, sometimes shortness of breath (already in infancy)
- recurrent bronchitis and pneumonia,
- chronic sinusitis with polyps
- possible nasal polyps and hemoptysis
- chronic blue pus and golden staphylococcus infection
- possible obstructive bronchitis
Gastrointestinal symptoms of cystic fibrosis
They occur in approx. 75% of sick:
- thick and sticky mucus blocks the pancreatic ducts and the food you eat is not digested and absorbed properly, leading to eating disorders
- there are profuse, unformed, foul-smelling, fatty stools (most often from early childhood)
- abdominal volume enlargement, sometimes rectal prolapse
- meconium obstruction in the neonatal period (often the first symptom of cystic fibrosis)
- possible gallstones
- recurrent pancreatitis
- intestine twist in the prenatal period
- obstruction of the salivary gland ducts with thick mucus secretion
- secondary biliary cirrhosis of the liver due to obstruction of the bile ducts (in 4-5%cases)
A person suffering from cystic fibrosis, depending on the symptoms of the disease, requires daily physiotherapy, antibiotic therapy, a high-energy diet, and frequent hospitalizations.
People with cystic fibrosis live shorter lives in Poland
Thanks to the progress of medicine and physiotherapy, patients with cystic fibrosis can lead an increasingly longer and more comfortable life, and according to the estimates of the MATIO Foundation, in Poland the number of patients over 18 years of age is approx. 30%. all diagnosed. In Western Europe, the life expectancy of people with cystic fibrosis has already increased to over 50 years. In Poland, unfortunately, it is still more than half lower. This difference results mainly from the late diagnosis of the disease, but also from the limited access to comprehensive specialist care, e.g. antibiotic therapy, isolated hospital rooms, physiotherapy, rehabilitation, support. Cystic fibrosis, as a multi-organ disease, causes irreversible changes in the patient's body and becomes complicated with age (diabetes, liver diseases, and changes in the respiratory system increase), therefore it requires comprehensive treatment. In many countries, lung transplantation is a common treatment for severe respiratory failure resulting from cystic fibrosis. They extend the life of patients up to 7 years. Then, the full physical fitness of people who, for example, could not live without an oxygen concentrator, is restored.
You have to learn to live with cystic fibrosis
Cystic fibrosis is a disease that requires daily rehabilitation and treatments, as well as regular medication and a proper diet. Conducting appropriate therapy in children is the merit of parents, for whom the genetic disease of a child does not mean a feeling of resignation. - We found out about the disease when Kuba was 5 months old, during that time the baby had a stroke and a collapse. We spent more time in the hospital than at home. The diagnosis was a shock! 16 years ago, there was very little information about this disease, fortunately we got to the IMiD, where we were given some encouragement and hope - says Anna Sławianowska-Morawiec, mother of 16-year-old Kuba suffering from cystic fibrosis. - In cystic fibrosis, you are constantly fighting for survival, for life. The day a child is diagnosed with cystic fibrosis, parents face enormous challenges. First of all, they have to get used to the disease and accept it as a natural part of their new life. - No mother will come to terms with a child's illness. But he has to learn to live with it, which is not easy, also financially. Treatment costs are high: proper diet, antibiotics, enzymespancreatic, check-ups, rehabilitation. Every day, many necessary activities should be performed: inhalation of the child, patting-assisted bronchial drainage, administering medications to facilitate the removal of thick secretion in the respiratory tract of a sick child, and follow a diet - says Anna Sławianowska-Morawiec. - There is no question of a professional job - overnight I had to transform from an accountant into a doctor, nurse, physiotherapist and dietitian.