A: Cystic Fibrosis is the most common serious genetic condition in Australian children today, affecting one in every 2,500 babies.
A: In CF, the mucous glands cause normal mucus to change to a thick, sticky substance. This mucus clogs the tiny passages in the lungs and traps bacteria. Repeated infections and blockages can cause irreversible lung damage and death. The pancreas is also impaired, preventing the release of enzymes which are needed for the digestion of food. This means that people who have CF can have problems with nutrition.
A: CF is an inherited condition. For a child to be born with CF both parents must carry the CF gene. Carriers of the gene do not have any symptoms of the condition.
A: One in 25 people carries the CF gene. If 2 people carry the gene, with every pregnancy there is a one in 4 chance that the child will have CF. There is a 2 in 4 chance that the child will not have CF but will carry the gene and a one in 4 chance that the child will not have CF and not be a carrier.
A: In Australia, all babies are screened at birth for CF. A blood spot test is carried out. If the test is positive, a sweat test will be done to measure the amount of salt in the sweat. A positive result confirms the diagnosis; a negative result may call for specific genetic testing.
A: Genetic carrier testing is available, and involves testing a sample of saliva or blood to see if you carry the gene for cystic fibrosis. This test may be offered to women who are pregnant, or trying to become pregnant, and their partners. Your doctor or a genetic counsellor can advise you on this type of test.
There are also special tests that can be used in pregnancy to determine if your baby will have CF. These tests are usually performed only if there is a family history of CF, or if carrier tests show that your baby may be at risk.
A: A persistent cough, which usually contains sputum, or a cough that occurs with physical effort; some difficulty with breathing, or wheezing with effort; frequent chest and sinus infections; tiredness and lethargy; diarrhoea; stools that float and may be difficult to flush; recurrent abdominal pain; poor appetite. Salt loss in hot weather may produce weakness.
A: The CF gene was identified in 1989. This has led to the development of a carrier test, improved treatment and better control of the condition.
Many people with CF need to have intensive daily chest physiotherapy to break up the build-up of mucus in the lungs. Some people are also helped by inhaled medicines that can open up the airways and make mucus thinner and easier to cough up.
Most people with CF will also take up to 40 enzyme replacement tablets each day to aid digestion. They must also follow high-energy diets with added vitamins and salt.
Vaccinations against influenza and pneumococcal disease are also recommended for people with cystic fibrosis.
Regular visits to CF clinics, hospitalisation and antibiotic treatment are common for people with CF. People with severe disease may require a lung transplant.
A: CF is not curable at this time, but with today's improved treatment most people with CF are able to lead reasonably normal and productive lives. A great amount of time and energy is being directed to raising money to find new and improved ways of treating CF and of finally gaining control of the condition.
Last Reviewed: 20 May 2009