Cystic Fibrosis

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

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:

  • Shortness of breath
  • Wheezing
  • Coughing with phlegm production
  • Sinus congestion with headaches and facial pain.

Diagnosis

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:

  • Genetic testing to identify the type of CFTR defect
  • A chest x-ray to show lung problems
  • A sinus x-ray to detect the presence of sinusitis
  • Lung function testing to assess the severity of lung disease
  • Sputum testing to detect respiratory tract infections.
If you are planning a pregnancy and have a family history of cystic fibrosis, you can undergo genetic testing to see whether you or your partner carries the faulty CFTR gene.

Treatment

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:

  • Oral, inhaled or intravenous antibiotics to treat infections
  • Anti-inflammatory medicines to reduce airway swelling
  • Bronchodilators to open the airways and reduce shortness of breath
  • Medicines to thin and loosen respiratory secretions
  • Vest therapy to help cough up respiratory secretions
  • Oxygen therapy
  • Pulmonary rehabilitation to strengthen muscles and improve exercise tolerance.
In severe cases, some patients may eventually need lung transplantation. At NTI, the doctors caring for patients with cystic fibrosis before transplant continue to care for them after transplant, thereby providing a smooth transition from our cystic fibrosis clinic to our lung transplant clinic.

Living with Cystic Fibrosis

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:

  • See your doctor at least four times a year and follow your care plan.
  • Avoid infections by washing your hands and receiving regular flu and pneumonia vaccines.
  • Contact your doctor immediately if your symptoms get worse or if you have signs of infection.
  • Learn all you can about your disease.
  • If you smoke, quit now. If you don’t smoke, don’t start, and make efforts to avoid second-hand smoke.
  • Maintain a healthy diet and drink plenty of water.
  • Talk to your doctor about how you can exercise safely.
  • Learn how to reduce and manage stress.
  • Talk to others about your disease—in person and online. Let your friends and relatives know how you feel and how they can help. Find out how other people with cystic fibrosis cope. 

Learn More About Cystic Fibrosis Services at Norton Thoracic Institute

To learn more about our services, call (602) 406-4000.