Frequently Asked Questions

What is cystic fibrosis?

Cystic Fibrosis (CF) is a condition in which there is an abnormality in the way sodium and chloride (salts) pass through some of the cells in the body. This results in some of the normal secretions or mucus in the body being ‘thick and sticky’, rather than thin and fluid.

Children and adults with CF have particular difficulty clearing sticky mucus in the lungs and are more likely to pick up chest infections. This same sticky mucus prevents the chemicals in the body that help digest food (pancreatic enzymes) from reaching the small bowel. These enzymes are needed to digest and absorb food (especially fats) in order to grow and thrive.

How do you get cystic fibrosis?

CF is an inherited condition, caused by a faulty gene defect. It is present at birth - you cannot catch cystic fibrosis or get it in later life. The condition is not always diagnosed as a baby - although early diagnosis is more likely since the introduction of newborn screening in January 2007 which is done with a heel prick test.

To have a child with CF, both parents need to carry the CF gene. About 1 in 25 of the population in the UK carries a CF gene and is usually totally unaware of this unless CF has already been diagnosed in the family. People who carry the CF gene have no symptoms and are not affected by CF. When both parents carry the gene there is a one in four chance (at each pregnancy) of having a child with CF.

How do you know when some one has CF?

Babies and children may have problems with recurrent chest infections and/or not growing well despite a good appetite. Loose ‘greasy’ looking stools are a common feature and show that food (in particular the fat in a diet) is not being absorbed properly which affects growth and general nutrition.

Occasionally the diagnosis is not made until later in childhood or even until adult life (for those who were born before the introduction of screening). A simple, painless test can be done to collect a little sweat that may show high levels of sodium and chloride (salt). A blood test will confirm the presence of two copies of the CF gene in most patients. However, occasionally a rare gene is difficult to detect.

How do you treat CF?

Treatment of CF concentrates on two main areas – preventing (and treating) chest infections and making sure food can be absorbed in order to thrive and grow.

Treatment for the chest includes physiotherapy (usually twice a day) and oral antibiotics to prevent infection. If an infection is present, extra intravenous antibiotics may be needed at home or in hospital.

Treatment for gastro-intestinal disease includes replacing the missing enzymes (available as granules or in capsules) so that food can be digested and absorbed. Having a varied diet with lots of calories is very important. Extra fat soluble vitamins (preparations that contain vitamins A, D & E) are usually prescribed, as these can be difficult to absorb from the diet.

No two children or adults are exactly the same, therefore care and treatment is specially tailored to meet the needs of each child and their family or young adult.

What are the complications of cystic fibrosis?

Cystic fibrosis varies widely in individuals from just requiring clinic follow-up to recurrent chest infections or gastro-intestinal problems needing extensive treatment and, or frequent hospitalization.

On the whole, the disease in progressive with children generally having good health,with careful management, with increasing symptoms showing as they progress into adulthood. However, some children may have advanced chest disease whilst some adults remain very well.

Chest infections often require a two week course of intravenous antibiotics through a cannula placed into the vein or via an implanted device in the chest wall (port) which gives venous access. Antibiotics can also be given through a nebuliser, which may be long term. Other oral, nebulised and inhaled drugs help reduce inflammation in the lungs, ‘open up’ the airways and make it easier to cough up very sticky secretions from the lungs.

Repeated infections over time can cause the lungs to become scarred, which in turn reduces the normal function of the lungs. Patients may suffer from breathlessness and loss of energy and some may need oxygen during an infection or on a longer term basis.

Other complications may include CF related diabetes, liver disease, gall stones, sinus problems, nasal polyps, blockage of the gut and joint problems. However it must be emphasised that not every patient will experience all or any of these complications.

Most women with cystic fibrosis are able to have children, but the majority of males are infertile. However, with a technique known as sperm aspiration (plus IVF for their partner), they may be able to become fathers.

Is there a cure for CF?

Not at present, but there is constant research to find better treatment for CF patients. Research is ongoing into gene therapy (to replace or modify the faulty gene) and into new drugs and medications that help to correct chemical faults or manage the symptoms more effectively.

What sort of follow-up and care is needed?

CF is a relatively rare condition and is seen in around one in 2500 babies born in the U.K. Patients with CF need to be looked after by a team of specialists at regional centres or hospitals that have shared care arrangements with regional centres. Specialists will include a multidisciplinary team of doctors, nurses, physiotherapists, dieticians, psychologists, social workers and pharmacists.

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