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Cystic Fibrosis (CF)

Cystic Fibrosis (CF) is a genetic disorder that limits and affects pulmonary (lung) health and can cause consistent lung infections, severely inhibiting an affected person’s ability to breathe normally. It manifests as a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which results in a dysfunctional CFTR protein. When this protein doesn’t work properly, it can’t move chloride—a salt component—to the cell surface. This causes the mucus in various organs to become sticky and thick.

Because of this mutation, mucus is built up in the lungs, pancreas, and other organs, resulting in blocked airways, which prohibits normal breathing patterns. It can also trap bacteria and lead to infection, pulmonary damage, and, ultimately, respiratory failure.

Cystic Fibrosis and Genetics

Because cystic fibrosis is a genetic disease, you cannot contract CF from an outside source. Most people with cystic fibrosis are diagnosed before the age of 2. Occasionally, adults are diagnosed later in life, but this typically means they’ve experienced atypical symptoms that result in a delayed diagnosis. People with cystic fibrosis have inherited two copies of the defective CF gene. In order for a child to be affected by CF, each parent must have at least one copy of the defective gene. Cystic fibrosis affects roughly 30,000 people in the United States.

Cystic Fibrosis Symptoms

Cystic fibrosis symptoms can vary from patient to patient, but telltale signs of cystic fibrosis include:

  • Wheezing/shortness of breath
  • Frequent lung infections
  • Persistent coughing
  • Salty-tasting skin (even when not exercising)
  • Poor growth or malnourishment regardless of appetite or caloric intake
  • Greasy, bulky stool or difficult bowel movements
  • Male infertility

Not all of these symptoms mean that you have cystic fibrosis, and not everyone who has cystic fibrosis will experience all of these symptoms. If you have a family history of CF or are concerned that you or your children might have the disease, call your doctor for a full examination.

Diagnosing Cystic Fibrosis

Diagnosing cystic fibrosis is a multi-step process. Nowadays, all 50 states screen newborns for cystic fibrosis in the few days after birth. An early CF diagnosis helps health care providers develop a treatment plan to help delay serious, lifelong health problems. Newborn cystic fibrosis screening differs by state, but typically includes pricking the baby’s heel and placing a blood sample on a special card called a Guthrie card. This card is mailed to a state laboratory, where they’ll test the blood sample for various health conditions—including cystic fibrosis.

Depending on the baby’s initial screening results, parents may be asked to bring their baby to a cystic fibrosis-accredited care center for a sweat test. A sweat test measures the amount of chloride in the sweat. The sweat test is non-invasive and doesn’t involve needles. Sweat tests are performed by applying a colorless, odorless chemical (pilocarpine) and a small amount of electrical stimulation to a small area of the leg or arm. This encourages the sweat glands to produce sweat. The sweat is then collected on a piece of filter paper or gauze in a plastic coil. The sample is then sent to a hospital lab to test how much chloride is in the sweat.

If you or your child’s cystic fibrosis screenings come back positive, your physician will work closely with you to develop the best treatment plan possible.

Cystic Fibrosis Treatments

While there is no cure for cystic fibrosis, many treatments and therapies exist to help CF sufferers live the healthiest lives possible. Diagnosing cystic fibrosis early is a key factor in successful treatment and the delay of symptoms and serious complications. Treatment options for cystic fibrosis include:

Airway Clearance Techniques

ACTs work to loosen the sticky, thick mucus that is characteristic of CF so it can be cleared from the lungs. Clearing the airways is shown to help improve lung function and decrease the number of lung infections. Common ACTs include:


Several medications are available to help treat and ease symptoms of cystic fibrosis. These medications include:

  • Mucus thinners (hypertonic saline and dornase alfa)
  • Antibiotics
  • Nebulizers (medical devices that turn liquid medicines into a fine mist that you inhale)
  • CFTR modulator therapies (these are designed to correct the malfunctioning protein made by the CFTR gene that causes cystic fibrosis)

Lung Transplant

In some cases, people with cystic fibrosis might make good candidates for a lung transplant. A lung transplantation can extend and improve quality of life, but it includes a long evaluation process and a commitment to living a lifestyle needed to keep your lungs healthy, as well as extensive surgery and recovery time.

The Lung Docs: Specialized Pulmonary Care

The Lung Docs provides specialized, state-of-the-art pulmonary care to our patients with cystic fibrosis in Chattanooga and the surrounding Southeast Tennessee and Northwest Georgia areas.

Dr. Mike’s Approach

I’m Dr. Mike Czarnecki, “The Lung Doc,” and I’m trained in all areas of pulmonary health, including the diagnosis and treatment of cystic fibrosis. I will work with you to formulate a personalized cystic fibrosis treatment plan so you can live, love, laugh, and breathe better again! To get started, schedule an appointment online or call our office to speak to someone directly. I can’t wait to meet you!