Wednesday, 22 September 2021
A COUPLE whose 17-month-old son has cystic fibrosis are urging health bosses to make new treatments for the condition more widely available.
Grant and Esther Valentine’s only child Joshua was diagnosed with the condition after taking the heel-prick blood test a few weeks after he was born.
The disorder, for which there is no cure, is caused by a genetic mutation that slows or blocks the movement of salt and water in and out of the body’s cells.
It causes a number of symptoms but the most common is a frequent build-up of mucus in the lungs, leading to infections, which eventually cause permanent damage.
It also affects the intentines so sufferers do not absorb nutrients from food as easily and can become malnourished. The pancreas can also become damaged, leading to diabetes in about half of patients.
Cystic fibrosis significantly reduces life expectancy, with few who have it reaching the age of 40. Those who live longer typically have a poorer quality of life as their breathing becomes worse.
Only 70,000 or so people have it worldwide. About 10,000 are in the UK as it chiefly affects people with white European backgrounds.
Treatment revolves around alleviating the symptoms and includes physiotherapy and exercise to keep the lungs clear, antibiotics to target infections and vitamin supplements.
However, a new series of drugs are emerging which target the problems with the cells, allowing freer movement of salt and water so less mucus builds up in the first place.
Joshua’s type of cystic fibrosis is likely to respond to Orkambi, a tablet which the European Medicines Agency approved for use in the over-11s in April.
It is expected to approve it for younger patients soon and the drug is now prescribed in America and several countries in Europe including Germany.
But last month the National Institute for Clinical Excellence, which decides whether treatments should get NHS funding, refused to permit its use because it said its long-term effectiveness was unproven.
Mr and Mrs Valentine, who live in Valley Close, Goring, say children like Joshua need treatment as soon as possible to prevent lung damage, reducing the odds of needing a transplant as teenagers.
The couple, who both work in IT, must follow a strict routine to keep Joshua as healthy as possible.
When he eats a meal, the couple must add enzymes that break it down to help him digest it and give him extra vitamins. He takes antibiotics and must not play in dirty environments as the risk of a chest infection is too high.
He is too young for traditional physiotherapy so he bounces on an exercise ball twice a day for several minutes to clear his lungs. His mum and dad adminster drugs to further improve his airways using a nebuliser.
The couple also take him swimming at the Oratory Prep School in Goring Heath and he needs to take part in some kind of additional physical activity every day.
Every two months they attend a specialist clinic at the Royal Berkshire Hospital in Reading where Joshua’s condition is monitored and they get advice on managing his symptoms. In December last year he developed a chest infection that would not respond to oral antibiotics. He was taken to the hospital and treated intravenously.
Mrs Valentine said: “The first signs of any trouble were that Joshua was colicky and seemed to be in pain when feeding. It was a real shock and devastating news to receive the diagnosis.
“We’ve been fairly fortunate so far as his health isn’t bad but we have to be very careful and all the things we have to do for him soon add up. It’s a tough balance because we still want him to enjoy a normal life and socialise with other children but we can’t afford to take any risks.
“Most children with cystic fibrosis will be able to take part in most activities to start with but by the time they leave primary school their lung function can start declining by about three per cent each year.
“It can be dangerously low by the late 20s but drugs are becoming available that will slow that down and could add decades to the lives of children like Joshua.
“The earlier you take them, the more chance you have of preventing complications. It’s about improving the quality of life, not just the length. Orkambi is made by an American company that has invested a lot in cystic fibrosis therapies and has a range of further treatments still in the pipeline.
“The cost per person is admittedly very high but it’s overall quite low compared with the cost of treating diseases stemming from obesity or smoking. Those are largely ‘lifestyle’ diseases whereas we’ve had no choice in the matter and it’s a question of how one allocates funding fairly.”
Mr Valentine, who grew up in Goring, said: “Everyone will have their own idea of what the NHS should fund and its a very difficult decision to make.
“However, these drugs are available in other countries and I think it’s valid to be asking why they aren’t over here. At the moment we expect him to gradually get sicker and be in hospital more frequently.
“When you see teenagers waiting for lung transplants you realise how important it is to prevent damage as early as possible.
“There’s a general air of disappointment among the cystic fibrosis community. People are angry and fearful for the future. It’s frustrating because for a long time these drugs didn’t exist. They are out there now but hurdles are being put in the way of obtaining them.
“The two-to-six age range is so important because trials have shown that permanent damage can start very young. The sooner you can intervene, the better. We should be making Orkambi available to eligible patients while the long-term trials are being conducted.
“Our personal hope is that Joshua will be on an effective drug within the next three or four years. Its benefits may be hard to quantify at this stage but we need to recognise the advances that drugs companies are making otherwise they will have no incentive to continue research in that field.”
The couple are members of the Cystic Fibrosis Trust, which is campaigning to increase the availability of both drugs, and have written to Henley MP John Howell, who helped to establish the Cystic Fibrosis Holiday Fund, a charity that pays for children and young people with the condition to have short breaks. They said he had been “very helpful” and agreed to raise the matter with the Department of Health.
The couple also hope to raise £5,000 for the charity through various events and appeals and next year Mrs Valentine is taking part in a 40-mile sponsored walk through the Surrey countryside. They have so far raised £2,800.
If Orkambi is cleared for use by younger children, the trust says manufacturer Vertex could vary its charges and is trying to broker talks between NHS England, Vertex and NICE. It says the drug could reduce emergency hospital admissions.
A NICE spokesman said: “Our independent appraisal committee concluded the cost of Orkambi was considerably higher than the current standard of care and not a cost-effective use of NHS resources.
“The committee acknowledged that Orkambi does offer benefit because it reduces instances where people experience a sudden worsening of symptoms that requires hospitalisation.
“However, the benefits to lung function, which is the test to see how people with cystic fibrosis are improving overall,Â were modest.”
30 August 2016
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