The Cystic Fibrosis (CF) team at Great Ormond Street Hospital treat this life-limiting disorder which affects more than 9,000 people in the UK, just under half of whom are children.
Approximately one in 25 of the population in the UK carry the faulty gene that causes cystic fibrosis and if two carriers have a child, the baby has a one in four chance of having CF.
Five babies are born with CF each week in the UK.
Two young lives are lost to CF each week.
Approximately half of those living with CF are likely to live past their late thirties.
Cystic fibrosis affects many internal organs, but in particular the lungs and digestive system by clogging them with thick sticky mucus.
Diagnosis of cystic fibrosis
Newborn screening for CF is routinely undertaken across the UK. The test is part of the heel prick sample of blood that is taken in the first few days after a baby is born.
The sooner CF is diagnosed, the earlier the appropriate treatment can commence.
Although CF is now mostly diagnosed through this screening process, there are some babies and older children (and even adults) who are diagnosed following unexplained illness.
In these cases the test used to confirm the diagnosis is either a sweat test (as those with CF have a greater than normal amount of salt in their sweat) or genetic testing with a blood sample or a swab of the inside of the cheek).
The lungs and digestive system
In CF the body produces sticky secretions that particularly affect the lungs and digestive system.
Often in newborn babies there are no immediate signs of any problems and so coming to terms with the diagnosis can be difficult. It is important, however, for appropriate treatment to be started at the earliest opportunity so that we can keep the baby as well as possible for as long as possible and delay the onset of symptoms.
When symptoms appear these may include a cough, chest infections, difficulty absorbing fat which results in poor weight gain. A combination of medication and physiotherapy (physical activity and airway clearance) can help control lung infections and prevent lung damage.
In terms of the digestive system, CF affects the pancreas, which makes it difficult for people with CF to digest food, in particular fat. This can lead to poor growth, physical weakness and delayed puberty.
In order to prevent this, most babies and children with CF take special enzymes which help the absorption of fat.
To avoid the risk of cross-infection, it is recommended that people with CF do not come into close contact with others with CF.
Other affected organs
Occasionally babies with CF display signs in the first few days of life with an obstruction of the bowel (called meconium ileus). The baby fails to open their bowels to pass meconium (a thick black material present in the bowels of all newborn babies) because the meconium is so thick that it blocks the bowel.
Babies with meconium ileus often need an urgent operation to relieve the blockage, although in some cases it can be managed without surgery.
People with CF are prone to developing bone disease (weak bones) due to the nutritional and other problems involved with the disease. This often causes problems in early adulthood and it is therefore very important that careful attention is paid to good nutrition and exercise to keep the bones healthy and strong.
CF is associated with fertility problems, particularly in men where the tubes that carry sperm are blocked. Women with CF do produce healthy, fertile eggs so effective contraception is necessary.
CF can also cause blockage of small ducts in the liver. This only happens to approximately eight per cent of people who have CF, but it is serious and people with CF are regularly monitored for liver complications.
Treatment of CF
Medication for the chest may include:
- Antibiotics to help treat or to control chest infections.
- Medicines to help clear mucus from the lungs (eg hypertonic saline or DNase).
- Other medications, such as steroids or bronchodilators, may also be necessary depending on the individual clinical situation.
- Medicines for the digestive system include pancreatic enzymes, extra vitamins and nutritional supplements.
Physiotherapy is an important part of the management of CF. Regular physical activity helps to keep the body fit (especially the lungs and heart), lungs clear, bones healthy and muscles strong. In addition airway clearance techniques are used to help clear mucus from the airways.
Other medications and treatment may also be necessary depending on each individual situation.