According to the Cystic Fibrosis Foundation Patient Registry, more than 30,000 people are living with cystic fibrosis in the United States with approximately 1,000 new cases diagnosed each year.
What is cystic fibrosis?Cystic fibrosis (CF) is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In order for someone to develop CF, they must inherit two copies of the defective CF gene – one copy from each of their parents. Both parents must have at least one copy of the defective gene in order for their child to develop CF.
DiagnosisIt is a multistep process to diagnose cystic fibrosis. It typically includes a newborn screening, a sweat test, a genetic or carrier test, and a clinical evaluation. More than 75% of people with CF are diagnosed by age 2 but some are diagnosed as adults.
SymptomsIt is a complex disease, and the types and severity of symptoms can vary greatly from person to person. Some symptoms include:
- Very salty-tasting skin
- Persistent cough, at times with phlegm
- Frequent lung infections including pneumonia or bronchitis
- Wheezing or shortness of breath
- Poor weight gain despite a healthy appetite
- Frequent greasy, bulky stools or difficulty with bowel movements
- Male infertility
TreatmentEach day, people with CF complete a combination of the following therapies:
- Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs
- Inhaled medicines to open the airways or thin the mucus
- Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients
- Individualized fitness plan to help improve energy, lung function, and overall health
- CFTR modulators to target the underlying defect in the CFTR protein