Even though most babies have symptoms from birth, the diagnosis of PCD may not be made until much later.
This is because PCD is difficult to diagnose. Your doctor may think that there is another explanation for your baby’s symptoms.
But it is important that your child is diagnosed as early as possible. Take a look at our information on going to your doctor to help you get the most out of your appointment.
If your GP, paediatrician or other specialist doctor thinks your child has PCD they will refer them to a specialist team. Your child will either be seen at a clinic or an expert may visit a centre nearer your home. They will do tests to confirm the diagnosis.
The doctor will collect a sample of surface lining cells from your child’s nose. This is called a nasal brush biopsy. This may be done in a specialist centre or in your local hospital. The sample will be sent for analysis of the activity of the cilia, or tiny hairs, on the surface of these cells.
A sample of the air your child breathes out will be tested. This is called the nasal NO (nitric oxide) measurement.
If your child is old enough, they may be asked to hold their breath but the test can be done during normal breathing too.
This test is usually only done in specialist PCD centres. There are 3 of these in the UK: in Leicester, Southampton and London.
If the results of these tests are not clear, more tests may need to be done:
- a CT – computer tomography or CAT scan
- a test to see how well your child’s lungs work – a lung function test or spirometry
- samples may be collected from your child’s airway using a brush called a bronchoscopic brush - this test is called a bronchial biopsy
- genetic testing – for some types of PCD