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To schedule an appointment with the Arnold Palmer Hospital Cystic Fibrosis Center, please call 321.841.6351.

Overview

What is Cystic Fibrosis?

Cystic Fibrosis (CF) is a lifelong inherited disease that involves the lungs and digestive system of the affected individual. About 30,000 children and young adults in the U.S. have CF. All babies born in Florida are screened for the CF gene and other inherited diseases.

What are some of the symptoms of CF?

Some of the respiratory and digestive symptoms of CF to watch for in your child include:

  • Increased coughing and difficulty breathing
  • Frequent respiratory infections
  • Chronic sinusitis or nasal polyps
  • Poor weight gain, despite a good (or sometimes excessive) appetite
  • Frequent, loose and/or large bowel movements
  • Mucus or oil in the bowel movement
  • Excessive gas and/or stomach bloating
  • Dehydration

We encourage you to schedule a consultation with your child’s pediatrician or your family physician if you have concerns about your child.

What is a sweat test and how does it work?

A sweat test is a painless test in which sweat is collected from the infant’s skin and analyzed for salt content. Infants with CF have an error in the way some of their cells exchange water and salt.

What do the results of the sweat test mean?

There are four possible outcomes of a sweat test:

  1. A positive sweat test means that your child has CF. The next step is to make an appointment with the Arnold Palmer Hospital Cystic Fibrosis Center to begin early treatment.
  2. A negative sweat test means your child does not have CF but is probably a carrier (see the section on carrier testing and inheriting CF).
  3. A borderline sweat test means the value is below the level needed to diagnose CF, but it is elevated. The sweat test may need to be repeated, and the doctors may need to order additional tests.
  4. If an infant did not produce enough sweat during the initial sweat test, the sweat test will need to be repeated.

What is carrier testing and why is it important?

The CF carrier test can help identify carriers of the altered CF gene who could pass it on to their children. Approximately 1 in 29 Caucasians, 1 in 46 Hispanics and 1 in 65 African Americans are carriers of an altered (mutated) CF gene. A child who inherits the altered CF gene from both parents will have CF and will need early treatment.

Two Carrier Parents

Each has one copy of the CF gene variant. Eggs and sperm carry one copy each, of either the normal gene or the CF gene variant.

For each pregnancy, there is a:

  • 1 – 4 chance that the child has CF (has two copies of the CF gene variant)
  • 2 – 4 chance that the child is a carrier (has one copy of the CF gene variant)
  • 1 – 4 chance that the child does not have CF nor carry any CF gene variants

Knowing that a child is a carrier can be important to you as parents and to your family. Parents who are planning to have more children should consider genetic testing to determine their CF carrier status. Other children in the family may also want to know their carrier status because eventually the CF gene can be passed on to their children. The Cystic Fibrosis Foundation has a very helpful website with more information about CF and carrier testing: cff.org/aboutcf/testing/

CFF Core Care Center

The Arnold Palmer Hospital Pulmonary and Sleep Medicine specialty practice is an accredited Cystic Fibrosis Foundation (CFF) Core Care Center. We encourage you to schedule a consultation with your child’s pediatrician or your family physician if you have concerns about your child.