Cystic Fibrosis: Living with a hidden challenge

Cystic fibrosis (CF) is a genetic condition that affects thousands of people worldwide, yet it often remains misunderstood. While advances in medicine have greatly improved life expectancy and quality of life, CF continues to present unique challenges for those living with it and their families.

What is Cystic Fibrosis?

Cystic fibrosis is caused by a change in a gene called CFTR, which controls the movement of salt and water in and out of cells. When this gene doesn’t work properly, the body produces thick, sticky mucus. This mucus builds up in the lungs, digestive system, and other organs, leading to breathing problems, infections, and difficulties absorbing nutrients.

Common Symptoms

Although symptoms vary from person to person, some of the most common include:

• Persistent cough and frequent lung infections
• Wheezing or shortness of breath
• Poor growth or difficulty gaining weight despite a good appetite
• Digestive issues, such as constipation or greasy stools

Treatment and Management

There is currently no cure for cystic fibrosis, but treatment has come a long way. A typical daily routine may include:

• Airway clearance techniques to help loosen mucus
• Inhaled medications that make breathing easier
• Enzyme supplements to aid digestion
• A high-calorie, high-protein diet to maintain strength
• Regular exercise, which helps clear the lungs and supports overall health

New therapies, known as CFTR modulators, target the root cause of the disease and have brought hope to many patients by significantly improving symptoms and slowing progression.

Living With CF

Living with cystic fibrosis requires resilience, routine, and a strong support system. Families, friends, and healthcare providers play a crucial role in helping patients manage their daily treatments while still pursuing education, careers, hobbies, and relationships.

Greater awareness of CF can help reduce stigma, encourage earlier diagnosis, and support ongoing research into better treatments. Communities worldwide organize awareness days, fundraising events, and advocacy efforts to give people with CF a stronger voice.

At Ginekaliks Laboratory, we offer Cystic Fibrosis testing together with our prenatal test, providing a more detailed insight into your baby’s health. We also perform carrier screening, since even without symptoms you may carry the gene and pass it on to your baby.
Learn more about all the options for genetic testing and prevention to ensure a healthy pregnancy: https://ginekalikslab.com/mk