Cystic fibrosis: a genetic disease that changes the quality of life

Cystic fibrosis is not something that “goes away with age” or is treated with a single course. It is a lifelong diagnosis that requires constant monitoring, attention, adaptation, and support. But at the same time, it is a diagnosis with which you can live actively, study, work, and build a family. Provided that the diagnosis was made on time and the treatment is systemic.

What do parents, adult patients, and those who are encountering this topic for the first time need to know?

What is cystic fibrosis?

Cystic fibrosis is a hereditary disease caused by a mutation in the CFTR gene, which is responsible for a protein that regulates the transport of chloride and sodium ions in the cells of the mucous membranes. As a result, viscous, thick mucus accumulates in organs, primarily in the lungs, pancreas, and intestines, disrupting their function.

This is the most common autosomal recessive genetic disease in Europe.

Main symptoms

Symptoms of cystic fibrosis depend on the form of the disease, but most often include:

– Chronic cough, lung infections
– Frequent shortness of breath, wheezing
– Weight loss, growth problems
– Fatty stools (steatorrhea), diarrhea
– Salty taste of skin
– Abdominal pain, bloating
– In men, infertility (due to obstruction of the vas deferens)

Newborns may experience meconium intestinal obstruction in the first days of life.

What systems are affected in cystic fibrosis?

Respiratory system: Mucus accumulates in the bronchi, contributing to infections. Frequent bronchitis, pneumonia. Without treatment - respiratory failure
Digestive system: the pancreas does not secrete enzymes, absorption is impaired. In children, there are deficiencies of vitamins A, D, E, K
Reproductive system: most men have obstructive infertility, women may have reduced fertility

How is cystic fibrosis diagnosed?

– Neonatal screening (blood test for IRT)
– Sweat test (sweat chloride concentration >60 mmol/L)
– Genetic test (detection of mutation in the CFTR gene)
– Lung function assessment, pancreatic enzyme analysis, organ ultrasound

Living with a diagnosis: what you need to know

– Inhalations and pulmonary physiotherapy daily
– Taking enzymes with each meal
– High-calorie diet enriched with vitamins
– Antibiotics for infections
– Observation in a multidisciplinary team (pulmonologist, gastroenterologist, nutritionist, ENT, physiotherapist)

Forecast: what has changed in recent years

Thanks to newborn screening, modern medications (in particular, CFTR modulators), and specialized centers, the duration and quality of life of patients has increased significantly. Most people with cystic fibrosis live beyond 40 years, study, work, and have families.

Instructions for parents: what to do if your child has cystic fibrosis

1. Don't panic - you are not alone. The diagnosis only sounds scary at first. You will have the support of a team of doctors and learn to live with it. The worst thing is to ignore it.

2. Stick to your treatment regimen. Inhalations, enzymes, vitamins — daily discipline allows a child to live a full life.

3. Don't ignore physical therapy. This is the key to healthy lungs. Learn postural drainage techniques, get a nebulizer.

4. Create a safe environment. Keep your home clean, free of mold, dust, and tobacco smoke. Avoid crowds during flu season — minimizing infections protects your lungs.

5. Provide complete nutrition. More calories, proteins, fats. Don't be afraid to add salt to your meals - children with cystic fibrosis have increased sweating.

6. Communicate with other parents. Support groups are a source of practical advice, emotional support, and experience.

7. Explain the diagnosis to the child. Depending on age — in simple terms. Children who are aware of their condition are more likely to cooperate with treatment.

8. Remember: a diagnosis is not a limitation. Your child can study, travel, have friends. The best thing you can give is a normal childhood with reasonable supervision.