09 Jun Twins fight to defy Cystic Fibrosis death prophecy
When they were diagnosed with cystic fibrosis as children, the outlook for a pair of twin sisters was bleak. But almost half a century later they continue to defy doctors’ expectations. Hayden Smith gets their story and looks at the continuing attempts to tackle the disease.
Surprisingly, Christine was not immediately tested after Michelle was diagnosed with CF, even though it is a genetic condition.
‘Obviously, if Michelle had it then I was going to have it. It’s amazing to think now that they wouldn’t have realised that,’ Christine said.
They describe themselves as the ‘guinea pig generation’ and the advance in medical care available over the years has been startling. When they were children, they were merely given digestive pills and antibiotics when they needed them. Now Michelle Martin takes 52 tablets every day and has five nebulisers.
When they were born in 1964, the life expectancy for those with cystic fibrosis was just five or six. Christine said: ‘We must have done something right, because we are still here.’ Her sister added: ‘We’ve kept on defying the odds.’
Both believe the bond they share has been instrumental in battling the disease.
Christine, from Horsham in Sussex, said: ‘We are very, very lucky in that way. Just having Michelle there to talk to, to share and understand what the other is going through is amazing. Otherwise you could feel so alone. I find it really hard when she’s not well.
‘I just want to be able to turn the tables and say, “Give her a break and let me have it worse for a while”.’
Michelle, from Southwater in Sussex, explained why she thought they had defied expectations for so long.
‘I think our parents taking such good care of us when we were young was a factor,’ she said. ‘We have always both been very sensible and done everything the doctors have told us.
‘And having a twin sister is definitely part of it. We have been very lucky, it has definitely helped.’
About half of CF sufferers are now expected to live beyond 41, although the average age of death is 29. Improvements in care have undoubtedly been helped by the Cystic Fibrosis Trust, which was set up in the same year as the twins were born.
‘From the day they are born, children with CF need large amounts of care every day to keep them alive,’ said charity chief executive Matthew Reed.
Britain has one of the highest concentrations of people with CF in the world and Mr Reed described NHS support as ‘pretty good’ as it offers about 50 specialist services.
But the CF Trust is concerned that cuts to frontline services are beginning to bite.
‘CF services are under significant pressure at the moment all around the UK,’ said Mr Reed.
The charity is using CF Week to raise awareness about the condition and campaign for free prescriptions for sufferers. Some patients in England still have to pay for their medicine while prescription charges have been abolished for patients in Scotland, Northern Ireland and Wales.
‘It is illogical and unjust that others with long term debilitating conditions, which may not have the same burden of treatment and care, are exempt from prescription charges while those with CF are not,’ said Jo Osmond, director of clinical care and commissioning at the CF Trust.
A cure has so far eluded doctors but the search for treatments goes on.
A drug called Kalydeco, available in the US, has been found to have success targeting a specific mutation of the disease which affects about four per cent of the CF population.
Mr Reed is keen for the medication, which he described as having a ‘transformational’ effect on patients’ lives, to be made available on the NHS once it is given the green light by European health regulators.
In Britain, a year-long trial has just started to examine the potential of gene therapy to improve the lung function of CF patients.
If it proves successful it could lead to a ‘one size fits all’ treatment across all 1,800 known mutations causing the disease.
But Prof Eric Alton stressed it was important not to raise expectations too much before the results of the trial, which are expected in 2014. ‘These are early days,’ he said.
An in-depth interview with the twins appears in the May issue of Reader’s Digest, which is out now.
- The Cystic Fibrosis Trust has invested £30 million in gene therapy over the last decade
- Over 9,000 people in Britain have cystic fibrosis, while it affects 100,000 people around the world
- In the EU, one in 2,000 to 3,000 newborn babies is affected by CF while the incidence is around one in every 3,500 births in the US.
- Around 3,000 people with cystic fibrosis in England still have to pay for their prescriptions, even though charges have been abolished in Scotland, Northern Ireland and Wales
- A survey found 88% of people in Britain think CF patients in England should get free prescriptions
- The first clear description of cystic fibrosis was made in 1938 in New York by Dr Dorothy Anderson, a pathologist, but reports of infants who almost certainly had the disease date back to the 17th century.
- The condition is caused by a single faulty gene that controls the movement of salt in the body.
- For a baby to be born with CF, both its parents must be carriers of the faulty gene. In that case, the child has a one in four chance of having the disease.
- Sufferers’ organs become clogged with thick mucus, leading to infections and inflammation which makes it hard to breathe and digest food.