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Cystic fibrosis is a genetically inherited disorder that affects about 30,000 people in the U.S. This disorder results from a gene mutation and is characterized by abnormal function of virtually every organ system of the body, including the pancreas, liver, digestive tract, reproductive organs, sinuses, and lungs. The abnormal function of these organ systems results from buildup of abnormally thick mucus that leads to a cycle of progressive inflammation, infection, and damage.
Cystic fibrosis was formerly considered a childhood illness, as most people with the disease died before reaching adulthood. As a result of aggressive medical care, the majority of individuals with cystic fibrosis today live well into adulthood, and the average survival has increased from 10 years in 1962 to 40 years today. Despite this tremendous progress, cystic fibrosis continues to be a life-limiting illness, and lung disease continues to be the most common cause of death among people with this disorder.
Symptoms of cystic fibrosis typically appear early in life. In fact, more than 70% of people with cystic fibrosis are diagnosed before age 2. Parents may first notice that their baby’s skin tastes salty, or that the infant does not pass stool. Symptoms involving the digestive and reproductive systems may appear later. Respiratory symptoms often include:
All newborns undergo genetic or blood testing for the faulty CFTR gene and to assess pancreatic function. If your child has the faulty CFTR gene, the doctor may also test your baby’s sweat to confirm the diagnosis of cystic fibrosis.
Other tests used to diagnose cystic fibrosis include:
There is currently no cure for cystic fibrosis, but recent improvements in treatment are extending the lives of people with the disease. The team at Norton Thoracic Institute (NTI) provides treatments that slow disease progression and improve quality of life. These treatments may include:
With close collaboration between the care team and the patient, people with cystic fibrosis can often live healthy and productive lives. At NTI, we recommend the following to our patients with cystic fibrosis:
To learn more about our services, call (602) 406-4000.