Cystic fibrosis – getting up to date

People with CF have a range of symptoms including very salty tasting skin, persistent cough and frequent chest infections, big appetite but poor weight gain and bulky stools that are hard to flush down the toilet.

Diagnosis involves collecting a sample of sweat and testing the amount of salt in it. High levels are indicative of CF and a blood test will be taken to look at the chromosomes. Genetic tests can identify the faulty gene.

Current treatments

Treatment depends on which organs are involved. Many children with CF suffer persistent chest infections, which are slow to clear and a two week course of intravenous antibiotics is often needed. Daily physiotherapy is also recommended to help clear the chest of thick mucus. When CF affects the digestive system, enzymes taken in the form of pills may be prescribed before meals to help the body digest food and absorb nutrients.

Screening

In future, screening tests will be carried out on a drop of dried blood on the Guthrie card. All babies have a Guthrie test when they’re one week old to test for thyroid disorders and phenylketonuria (a metabolic disease which causes brain and nerve damage) and the test for Cystic Fibrosis will be routinely added to the list.

A major step forward

In 1989 researchers identified the faulty CF gene and the theory is that we could cure cystic fibrosis if we could get a good gene into the body to replace the faulty one. However, delivering genes that the body will accept is a complex procedure. It has been done in America in 1993 but when the corrected lung cells died, the cells that grew in their place were coded with the faulty CF gene. Clinical studies in the UK have shown that to be effective, the replacement genes need to be stronger and more resilient.

So the research continues and there are several projects underway here. Hopefully, in the future gene therapy will reduce lung damage, improve life expectancy and decrease morbidity. In the meantime, early screening will allow prompt and aggressive treatment of the disease and improve the prospects for young children with cystic fibrosis.

Support groups and information…

Contact a Family - puts you in touch with other families who have a child with CF.
For more information look at the following websites:
The Cystic Fibrosis Trust
The Cystic fibrosis resource centre
You can also get information about local support groups.