We asked Dr Alan Day, consultant paediatrician with a special interest in cystic fibrosis, at Cheltenham General Hospital, what he would want to know about the condition.
What questions should I ask if my child is diagnosed with cystic fibrosis?
After diagnosis, families can be shocked and be concerned about what it means for any future children.
The first thing many parents of a newly diagnosed child ask is, ‘Is my child going to survive?’ The survival rate has quadrupled from the age of 14 in 1977. Now, a child born in 2000 can expect to live into their mid-50s and beyond. The main cause of death in the past and, sadly, even now in children and young adults with cystic fibrosis is from long-term complications such as chronic chest infections. There are many treatments that aim to minimise these complications and parents will want to know what the treatment will involve. There have been many advances in the past 20 years and there will be many more.
How is cystic fibrosis detected?
A blood test called the
Guthrie Test, carried out when a child is six days old, has resulted in a significant increase in the number of patients diagnosed. The test is now performed over the whole of the UK and it is proving to be effective in diagnosing cystic fibrosis very early. The sooner we diagnose patients as babies, the better the outcome should be. The test done thereafter is called a sweat test, which tests the salt content in bodily secretions.
What risk is there if I have more children?
Cystic fibrosis is the result of a simple genetic defect inherited because both parents are carriers of the defective gene, even if they themselves are not affected. There is a one-in-four chance of having another child similarly affected. There is also a two-in-three chance that siblings could be carriers, even if they're not affected. This can be detected through testing.
What happens if cystic fibrosis is not treated?
If left untreated, as happened 30 or 40 years ago, a child with cystic fibrosis would eventually develop a very bad chest infection and chronic diarrhoea. As the child wouldn't be able to absorb fat and protein, they would be very weak. Complications elsewhere would involve the gut, as the pancreatic gland doesn't work properly in 98% of cases, and some patients may develop diabetes. Because of the thick secretions, many will also suffer from liver problems. A number of patients will also develop joint problems such as arthritis. This is because the body is constantly battling against germs, and this can cause the joints to become irritated.
Can a child with cystic fibrosis enjoy a normal life?
As a child gets older there can be problems, such as rejection of the treatment, their physiotherapy being hard, and so on.
There are difficult stages in life, particularly adolescence. They might question the diagnosis and ask, ‘Why me?’ The treatments can also, at times, be socially embarrassing. We try to normalise things as much as possible and address lifestyle issues, such as finding a suitable job. There are statistics to suggest that cystic fibrosis patients have marginally better state exam results and they are often very sporty. People with cystic fibrosis really can live life to the full. We aim to have no limitations on what a person with cystic fibrosis can do.
What does the future hold?
We can be very upbeat. We're getting earlier diagnoses through neo-natal screening, and the treatments are improving through lots of research run by the Cystic Fibrosis Trust, which helps to minimise the complications. Sadly, for reasons we can't clearly understand, there are still complications. But there has been a huge increase in the life expectancy for this lifelong condition.
