myself was the really improve
healthy 7lb 8oz, Ben’s condition deteriorated within hours as he failed to feed, because mucus was blocking his lungs and bowel.
This is a classic sign of CF so doctors gave him the definitive heelprick screening test.
Ben’s consultant is Stuart Elborn, professor of respiratory medicine at Queens’ University Belfast.
He helped developed cystic fibrosis centres for adults in England and Wales. And in 1995, he started a new centre, providing care for adults with the condition, in Northern Ireland.
The Belfast Centre has an active research programme into the basic science of the disease. ‘The heel-prick test is not diagnostic but screens for extremely high levels of an enzyme called IRP,’ says Prof Elborn. ‘The second stage is a genetic test, then a sweat test as there are high levels of salt present in those with CF.’
Ben’s mother Karen recalls: ‘It was only after the diagnosis that my father said he must have been the carrier as his brother had three children with CF who later died.’
Although a carrier, Karen has no symptoms of the disease. Neither Jamie nor Lydia have the disease or are carriers.
‘When Ben was born, the wife of the consultant who looked after him sent me a magazine on CF and I scoured every page, looking for any articles about children that had lived to five or six to give us hope. I was a nurse but I knew so little about it,’ she says.
As a mother, Karen has battled other people’s ignorance. ‘I’ve had people say, “Oh, Ben must only have a mild case of CF” as he seems so fit.’ She encouraged him to play sports, which in turn kept his lungs healthy. Lungs affected by CF produce mucus that contains less water than it should and is stickier.
The movement of mucus in healthy lungs means bacteria can be kept ‘clean’ but in those with CF, bacteria can become more vulnerable to lung infections.
As ducts i n the pancreas can become blocked by mucus in those with CF, the ability of the enzymes to break down food is affected. This means that because the body cannot digest essential nutrients, CF sufferers can find it difficult to maintain a healthy weight.
EXERCISE is good thing for those with CF, especially anything to strengthen chest muscles,’ says Prof Elborn. ‘ Those with CF burn more calories due to infection in the lungs and the body having to work harder to breathe.
‘As a result they have to eat twice the average person’s daily intake of calories. Getting the right amount of nutrition and exercise is essential and keeping weight on can be an issue.
‘A second advantage to exercise is that it improves mucus clearance.
‘How often have you seen a rugby or football player spit — it is because t he body produces more mucus while exercising.’
Ben has worked out what leaves his stomach ‘sore’, such as broccoli and fizzy drinks. ‘I eat as sensibly as I can,’ he says over a steak. ‘Not much bread and six meals a day based around protein.’
He lines up his medication — f our capsules of Creon 25,000, which he takes with every meal to assist t he pancreas in digesting food.
‘He also takes Forceval — vitamins and minerals — because his body does not absorb fat.
Sensing the inevitable awkward question on fertility, Ben preempts it by saying his girlfriend of nearly four years, Janice, 24, who works in insurance, is going to be tested to see if she is a carrier.
Although men with CF can have a normal sex life, they are usually infertile due to an absence of the vas deferens, the tube that carries sperm from the testes to the penis. Sperm is produced, so in-vitro fertilisation is possible and has a success rate of between 30 and 50 per cent.
Females with CF are likely to have delayed puberty as a result of low weight and a higher incidence of amenorrhoea (missed or irregular periods). Cervical mucus may be thicker than normal, which may cause problems with conception.
Pregnant women can have amniocentesis to test the embryo for CF so that if the baby has a bowel blockage it can be picked up on a scan.
Research is continuing worldwide to learn more about the disease.
One of the most important areas is gene therapy, the aim of which is to add a copy of a healthy gene to do the job of a faulty one.
If successful, it would prevent the lung damage that kills 90 per cent of those with CF. Jo Osmond, a CF specialist and campaigner, says: ‘Ben shows how beneficial physical activity can be to those with the condition. ‘Those with CF should be encouraged, if able, to exercise and to participate in sports as it can improve lung function, keep t he lungs clear, and maintain physical fitness.’ Kar e n is defiant about her son’ s longevity.
‘I’m convinced that as long as Ben keeps fit and healthy, he will be well,’ she says.
‘He’s living well and hopefully t hat will inspire others, too.’