Cystic fibrosis

About cystic fibrosis

Cystic fibrosis is a genetic condition that affects the lungs, digestive system, sweat glands and reproductive system.

Cystic fibrosis is caused by a change in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This genetic change affects how much salt and water go in and out of the body’s cells.

To have cystic fibrosis, you must have 2 genes with this genetic change, one from each of your parents. If you have just one changed gene, you’re a carrier of cystic fibrosis. Most carriers are healthy and don’t have symptoms.

Signs and symptoms of cystic fibrosis

If your child has cystic fibrosis, their body produces thick, sticky mucus that blocks their lungs, clogs their airways and is difficult to cough up. These blockages trap bacteria, which leads to chest infections and lung damage.

Because of the mucus and the problems it causes, your child might cough a lot and have difficulty breathing.

The thick mucus can also clog the pancreas, blocking the flow of pancreatic juices into the bowel to digest food. Because your child’s food hasn’t been digested properly, they might have malnutrition, weight loss and diarrhoea.

Your child might get frequent constipation and bowel blockages. If a baby is born with a blocked bowel, it can be a sign that the baby has cystic fibrosis.

Children and teenagers with cystic fibrosis have salty sweat. This can lead to a higher chance of dehydration.

Cystic fibrosis can lead to many long-term problems like poor growth and a special type of diabetes called cystic fibrosis-related diabetes.

It can be difficult for men with cystic fibrosis to have children naturally.

Most children with cystic fibrosis now survive well into adulthood, although they might not live as long as people who don’t have cystic fibrosis.

Diagnosis of cystic fibrosis

If you have cystic fibrosis in your extended family, it’s a good idea to have genetic counselling and genetic testing. People who carry the gene can be identified with a simple blood test.

If you’re pregnant and there’s a possibility of your child inheriting the gene for cystic fibrosis, you can have further tests during pregnancy to work out whether your child is affected.

If you give your consent, your baby will be tested for cystic fibrosis as part of standard newborn screening in Australia. This is a simple test that involves pricking your baby’s heel and collecting a few drops of blood.

If this test shows that your baby has a high level of an enzyme called immunoreactive trypsin (IRT), genetic testing can show whether your child has cystic fibrosis.

A sweat test can also be used to diagnose cystic fibrosis. This test involves stimulating a small area of skin to produce sweat.

Support and treatment for children and teenagers with cystic fibrosis

There’s currently no cure for cystic fibrosis. But there are treatments that can improve the daily lives of children and teenagers with cystic fibrosis and help them manage their symptoms.

Some of these treatments are intensive and time consuming.

For example, your child with cystic fibrosis might need to go to a specialist cystic fibrosis unit regularly. And they might need to go to hospital often to manage chest infections.

Your child will need daily physiotherapy to clear their lungs of mucus. They’ll need to take inhaled medicine while having physiotherapy to break down the mucus and open the lungs. You can usually do these treatments at home.

Your child might also need antibiotics to prevent or treat lung infections. They might also use corticosteroids to treat inflammation caused by lung infections.

Doctors often recommend enzyme replacement therapy to help with digestion, as well as vitamin supplements and a special diet to help with energy and nutrition.

Regular exercise will help your child clear their airways and build strength.

CFTR modulator therapy
CFTR modulator therapy is a drug therapy. It can significantly improve the health of many children and teenagers with cystic fibrosis. It might also prevent lung damage. This therapy targets the underlying cause of cystic fibrosis in the body’s cells rather than treating the symptoms.

Most children over 6 years and some children under 6 years are given CFTR modulator therapy.

Your child’s specialist team will use your child’s genetic test results to work out whether this therapy is suitable for your child. If it isn’t, they’ll look at other treatment options.

People who can help children with cystic fibrosis

If your child has cystic fibrosis, your child will probably be treated in a specialist unit by a multidisciplinary cystic fibrosis team. This team might include any or all of the following health professionals:

Living with cystic fibrosis

Staying active and having chest physiotherapy can help your child with cystic fibrosis keep their lungs healthy.

Your child with cystic fibrosis might miss a lot of school because of frequent hospital visits. It’s important to let your child’s teachers know about your child’s condition and communicate regularly with the teachers.

People with cystic fibrosis are advised to stay at least 4 metres away from other people with cystic fibrosis. This is to help prevent the spread of antibiotic-resistant bacteria that are common in the lungs of people with cystic fibrosis.