Cystic fibrosis

About cystic fibrosis

Cystic fibrosis is a condition that affects children’s lungs, digestive systems, sweat glands and reproductive systems.

Causes of cystic fibrosis

Cystic fibrosis is a genetic condition. It’s caused by a mutation in the gene that controls how much salt and water go in and out of the body’s cells.

To have cystic fibrosis, a child must have two cystic fibrosis genes, one from each of their parents. If a child has just one gene, the child is a carrier of cystic fibrosis. Most carriers are healthy and don’t have symptoms.

Signs and symptoms of cystic fibrosis

Children with cystic fibrosis produce thick, sticky mucus that blocks their lungs, clogs their airways and is difficult to cough up. These blockages trap bacteria, which leads to lots of infections and lung damage.

Because of the mucus and the problems it causes, children with cystic fibrosis cough a lot and have difficulty breathing.

The thick mucus can also clog the pancreas, blocking the flow of pancreatic juices into the stomach to digest food. Because their food hasn’t been digested properly, children with cystic fibrosis can have malnutrition, weight loss and diarrhoea.

Cystic fibrosis can also affect the bowel. Children with cystic fibrosis 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 with cystic fibrosis have salty sweat. This can lead to a higher risk of dehydration.

Cystic fibrosis can lead to many long-term problems like poor growth and diabetes.

Men with cystic fibrosis might be infertile, which means they have trouble having children naturally.

Although many children with cystic fibrosis now survive well into adulthood, their condition means they might not live as long as other people.

Diagnosis of cystic fibrosis

If you have cystic fibrosis in your extended family, it’s a good idea to have genetic counselling and testing for cystic fibrosis. 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 taking blood from your baby’s heel.

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, which involves stimulating a small area of skin to produce sweat, is also used to diagnose cystic fibrosis.

Support and treatment for children with cystic fibrosis

There’s currently no cure for cystic fibrosis. But there are treatments that can help children manage their symptoms and improve children’s life expectancy.

Treatments for cystic fibrosis can be intensive and time consuming. Children need to go to a specialist cystic fibrosis unit regularly, and some children need to go to hospital often to manage chest infections.

Children usually need physiotherapy two times a day to clear their lungs of mucus. They usually need to use inhalers while having physiotherapy to break down the mucus and open the lungs. A parent or carer usually does these treatments.

Children might 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 high-energy diet, with high salt and fat to help with nutrition.

Children also need regular exercise to clear their airways and build strength.

CFTR modulator therapies
Some children with cystic fibrosis might be given a new type of drug therapy called cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy. This therapy targets the underlying cause of cystic fibrosis in the body’s cells rather than treating the symptoms.

CFTR modulator therapies have been shown to significantly improve the health of some children with cystic fibrosis and might prevent lung damage.

Your child’s specialist team will tell you whether this therapy is suitable for your child.

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 children with cystic fibrosis keep their lungs healthy.

A child with cystic fibrosis might miss a lot of school because of frequent hospital visits. If your child has cystic fibrosis, it’s important to let teachers know about your child’s condition and communicate with teachers regularly.

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

These days, with good treatment, people with cystic fibrosis can live productive lives well into middle age.