Understanding Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder that affects the lungs and digestive system by causing thick, sticky mucus 

Genetic Origin: CF is inherited when a child receives a faulty CFTR gene from both parents.

Respiratory Impact: The thick mucus clogs airways, leading to frequent lung infections, coughing, and breathing difficulties.

Digestive Challenges: Mucus can block the pancreas, hindering digestion and nutrient absorption, often resulting in poor weight gain and malnutrition.

Signs and Symptoms to Watch For

Persistent cough with thick mucus

Frequent chest infections or pneumonia

Salty-tasting skin

Poor growth or weight gain despite good appetite

Frequent, greasy stools or difficulty with bowel movements

Diagnosis

Newborn screening: Most cases are now detected early through newborn screening programs.

Sweat test: Measures salt levels in sweat – people with CF have higher levels.

Genetic testing: Identifies mutations in the CFTR gene.

Management and Treatment

Airway Clearance Techniques (ACTs): Regular chest physiotherapy helps loosen mucus and prevent infections.

Medications:

Mucus thinners and bronchodilators for easier breathing.

Antibiotics to treat lung infections.

CFTR modulators (e.g., Trikafta) help improve function of the defective protein in eligible patients.

Nutritional Support

High-calorie diets and pancreatic enzyme supplements.

Vitamin supplements (A, D, E, and K) to support growth and immune function.

Vaccinations: Stay up to date, especially with flu and pneumonia vaccines to prevent complications.

Regular Monitoring: Lung function tests, chest X-rays, and stool fat analysis help track disease progression.

Living with CF

Engage in daily physical activity to strengthen lungs.

Join support groups for emotional well-being and peer encouragement.

Avoid secondhand smoke and polluted environments.

Advancements in Care

Thanks to improved care, people with CF are now living into their 40s, 50s, and beyond. Emerging gene therapies and personalized medicine continue to offer hope for even better outcomes.