Cystic fibrosis, also known as cystic fibrosis, is a genetic disease that mainly affects the lungs and digestive system, but can also affect other organs. It is an autosomal recessively inherited disease, meaning that a child must inherit the mutated gene from both parents in order to develop. Although cystic fibrosis occurs worldwide, it is most commonly diagnosed among the Caucasian population.
Symptoms
Cystic fibrosis, although a genetic disease and present from birth, can manifest itself in a variety of ways, with symptoms often becoming more apparent over time. Recognising the disease at an early stage can significantly affect the effectiveness of treatment and the patient's quality of life. The symptoms of cystic fibrosis are mainly related to the respiratory and digestive systems, but can also affect other parts of the body, including the reproductive and sweat systems.
The main and most characteristic symptom of cystic fibrosis is a chronic cough, often with the spitting up of thick, sticky secretions. The accumulation of mucus in the airways leads to difficulty breathing, as well as frequent pulmonary infections such as bronchitis and pneumonia. Patients may also experience recurrent sinus and nasal polyps, which makes breathing even more difficult.
Cystic fibrosis also affects the pancreas, reducing its ability to produce the enzymes needed to digest food. This in turn can lead to problems with nutrient absorption, manifesting as diarrhoea, constipation, bloating and intolerance to certain foods. Malnutrition and difficulty gaining weight are common problems in people with cystic fibrosis.
Cystic fibrosis can also affect liver function, leading to liver swelling and damage, which can result in jaundice. In men, the disease is often associated with infertility. In addition, people with cystic fibrosis may have a higher than average salt content in their sweat, which is one of the diagnostic markers for the disease. In children, the first symptom may be meconium ileus, a blockage of the intestines by thick, sticky first capital.
Diagnostics
The diagnosis and treatment of cystic fibrosis are areas where medicine has made significant progress in recent years. Early detection of the disease and the use of appropriate treatment can significantly improve patients' quality of life and prolong their lives.
The diagnosis of cystic fibrosis usually begins with the identification of typical symptoms, such as chronic cough, frequent pulmonary infections, problems with food absorption or unusually salty sweat. Then, specialised tests are used:
- Sweat test: This is the primary test used to diagnose cystic fibrosis, measuring salt levels in the patient's sweat. A high chloride concentration indicates the presence of the disease.
- Genetic testing: They allow the identification of mutations in the CFTR gene, responsible for the development of cystic fibrosis. These tests are particularly useful when a family history suggests a higher risk of the disease.
- Pulmonary function tests: Such as spirometry, can help assess the extent to which the disease is affecting the respiratory system.
Although cystic fibrosis remains an incurable disease, there are treatments that can significantly alleviate symptoms and improve patients' quality of life:
- Drug therapy: It includes the use of antibiotics to treat bacterial infections, mucus-thinning drugs and anti-inflammatory drugs. In addition, CFTR modulators are used to help improve the function of the CFTR protein in people with certain genetic mutations.
- Respiratory physiotherapy: It aims to help remove thick mucus from the lungs. Techniques such as postural drainage, thoracic percussion and breathing exercises are key in the daily care of the patient.
- Nutritional supplementation: Many people with cystic fibrosis require additional supplements of pancreatic enzymes and fat-soluble vitamins (A, D, E, K) to support proper digestion and absorption of nutrients.
- Psychological support: Living with cystic fibrosis can be challenging not only physically but also emotionally, so psychological support is an important part of comprehensive care.
Advances in genetics and biotechnology are opening up new possibilities in the treatment of cystic fibrosis, including gene therapies and advanced CFTR modulators that could change the face of the disease in the future. With ongoing research and the development of new drugs, the outlook for people living with cystic fibrosis is becoming increasingly promising.
The role of NGOs and patients in promoting accessible treatment
In the context of cystic fibrosis, NGOs and patients play an irreplaceable role in promoting access to treatment and support. Their activities are fundamental not only to raise awareness of this genetic disease, but also in terms of practical support for people struggling with cystic fibrosis.
NGOs are a key link in the chain of support, offering a range of services that make daily life with the disease easier. Thanks to their involvement, patients and their families have access to support in the rehabilitation and independence process, which is essential to maintain the best possible quality of life. These organisations also play an important role in financing treatment and rehabilitation, often becoming intermediaries between patients and medical and insurance providers.
In addition, these organisations offer legal support to help patients understand and enforce their rights in the healthcare system. With access to legal advice, patients are able to more effectively apply for necessary services and treatment.
The psychological support they provide helps people struggling with cystic fibrosis to cope with the stress, anxiety and other emotional challenges that living with a chronic illness brings. Similarly, the social and spiritual support offered by these organisations contributes to building strong, supportive communities where patients and their families can find understanding and comfort.
Patients and their families also play an important role in creating awareness of cystic fibrosis. Their personal stories and experiences are an invaluable source of knowledge and inspiration for others, helping to break down barriers and build interpersonal bonds. By actively participating in information and education campaigns, patients help to raise awareness of cystic fibrosis, which is crucial for early detection of the disease and promotion of a healthy lifestyle.
NGO activities and patient involvement are therefore invaluable in promoting accessible cystic fibrosis treatment. Their joint efforts not only improve the quality of life of those affected, but also contribute to a better understanding of cystic fibrosis in society.