Cystic fibrosis in children and teenagers

What is cystic fibrosis?

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

What causes cystic fibrosis?

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.

What are the symptoms of cystic fibrosis in children?

Mucus

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.

Breathing difficulty

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

Digestive problems

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.

Salty sweat and skin

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

Long-term problems

Cystic fibrosis can lead to 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.

How is cystic fibrosis diagnosed?

Genetic testing

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.

Many people are carriers of cystic fibrosis but don’t have a family history of the disease. That’s why Medicare funds a screening test for anyone considering pregnancy.

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.

Newborn screening

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.

Sweat test

This test involves stimulating a small area of skin to produce sweat.

How is cystic fibrosis treated?

There’s currently no cure for cystic fibrosis, but there are treatments that can improve daily life for people with the condition by treating the underlying cause of cystic fibrosis or helping them manage their symptoms.

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 damage to the lungs and pancreas. This therapy targets the underlying cause of cystic fibrosis in the body’s cells rather than treating the symptoms.

Most children over the age of 2 years are given CFTR modulator therapy, and sometimes therapy can start earlier. Your child’s specialist team will use your child’s genetic test results to work out whether this therapy is suitable for your child and when it should start.

Children must take CFTR modulator therapy every day or their symptoms will return.

If your child takes CFTR modulator therapy, they might still need other treatments to help them manage the symptoms of cystic fibrosis.

Other therapies

Other therapies treat the symptoms of cystic fibrosis.

For example, your child with cystic fibrosis is likely to 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 might need daily physiotherapy to clear their lungs of mucus. During their physiotherapy sessions, they’ll need to take inhaled medicine 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 pancreatic 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.

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 the following health professionals:

What’s it like to live with cystic fibrosis?

Most children with cystic fibrosis now survive well into adulthood.

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 then 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.