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Thousands of families living with the effects of Duchenne muscular dystrophy, the fatal wasting disease, are drawing hope from trials of a new drug, known as PTC124.
Linda Ball, whose six-year-old son Daniel has the condition, says that the prospect of a treatment in the future gives something for her family to cling to.
However, she also says that she is resigned to the fact that she will eventually see him die. Although Daniel does not have the kind of gene mutation that the drug can correct, the momentum of the research gives grounds for optimism.
“Realistically, my little boy is going to die. But it gives you hope. You think, maybe they will be able to twist the research around to help the remaining sufferers.”
Mrs Ball has lived under the shadow of the disease for much of her life — her older brother died of it when she was 13, and her two-year-old daughter may carry it. “If a breakthrough is too late for Daniel, then it might come through for the next generation of boys.”
In the meantime Mrs Ball is intent on making Daniel’s life as normal and enjoyable as possible. He still goes to a main-stream school.
However, over time, Daniel’s muscles will degenerate to the extent that he needs a wheelchair. “He is going down. He has a bike in the garage that he will never ride again — I find that heartbreaking. He doesn’t have the strength or balance any more.”
Mrs Ball finds herself in a continual balancing act: trying to be truthful with Daniel while not crushing his hope. “We allow ourselves to be guided by his questions, by drip-feeding him information. But if he asks if he’s going to die, we just say, ‘Of course; everyone’s going to die.’ What can you say to a child? You don’t want to take away their hope.”
PTC124 may not be on the market, but, according to Mrs Ball, its effects are already being felt. “We have to be cautious, but the fact there’s something there gives you hope. I will go to bed happier tonight because of it.”
Duchenne muscular dystrophy
–– About 100 boys with Duchenne muscular dystrophy are born in Britain each
year, and about 1,500 are alive at any one time
–– The condition causes progressive muscle-wasting
–– Patients usually have difficulty walking by the age of three and are
confined to a wheelchair between eight and 11. They rarely live beyond teens
or early twenties, as muscles needed for breathing break down
–– It is caused by a mutation in the dystrophin gene. About 13 per cent of
cases are caused by “nonsense” mutations, and would be amenable to treatment
with PTC124. Other cases would not respond to the new drug
–– More than 1,800 other genetic disorders are sometimes caused by nonsense
mutations. These include some cases of cystic fibrosis and haemophilia
–– Because the gene for dystrophin is carried on the X chromosome, the disease
is generally inherited only by boys. Girls have two X chromosomes, and the
healthy one masks the mutation, while boys have one X and one Y chromosome
and inheriting the mutation causes the disease It is named after Dr
Duchenne de Boulogne, who worked in Paris in the mid-19th century and was
one of the first people to study the muscular dystrophies
Source: Muscular Dystrophy Campaign, Pennsylvania University
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We have a son who is 4 and has DMD. We find this new research to be very encouraging. Our son's doctors have seemed optimistic that breakthroughs are on the horizon. We must keep hope and pray for a cure and advances daily! This research is a very positive step.
Alan Cosby, Rainbow City, USA / Alabama
Can anybody explain what is meant by a 'nonsense' mutation please?
Catherine, Woodbridge, England
Pity that this potential breakthrough has generated such a negative response so far - I'm with Siobhan here - approach this with a positive attitude and look at the potential - whilst keeping a realistic balance. Treatment for DMD has improved significantly in the past 20 years (without finding a cure) such that life expectancy is now into 30's and even 40's in countries with the most developed care approaches - Denmark leads this I believe. Let's support the science here and get behind this, especially if this has potential for other genetic diseases as this will build momentum.
stephen , Lothian, Scotland
This little boy is six years hold and has every hope. I know how heartbreaking it is when you know they won't run or walk anymore and they lose their physical strength. But I promise you there is so much that can already help and give an good quality of life. Our middle son is 23, he has DMD. He has enormous strength of character and he lives a full and rich life. He has a flat, a job, loads of friends. He is completely physically dependent and he needs a ventilator at night, but there is so much that he can do , you just have to make it possible. It is a balancing act. This new drug sounds promising but don't forget the advances in daily care that are already there. I know I have to be realistic but hope and optimism have got this family through a lot. Live life and try not to think about death.
Siobhan Jowett, Thoiry, France
Maybe you should actually read the main article, rather than ranting..
Stephen, Oxford,
What is the drug? How does it act? How effective is it? Why doesn't it work for Daniel? What is its approval status? When might it be on the market?
Why isn't that information in the article? Do you think we're only interested in gossip?
Harvey S. Frey, Santa Monica, CA
Dear Sir,
I have a kids which 5yrs old and his having Ullrich congenital muscular dystrophy and I wander will it help on my Kid's and I would like to put him on the test
Patsy Chan Peng Hong, Selangor, Malaysia
This little boy is six years hold and has every hope. I know how heartbreaking it is when you know they won't run or walk anymore and they lose their physical strength. But I promise you there is so much that can already help and give an good quality of life. Our middle son is 23, he has DMD. He has enormous strength of character and he lives a full and rich life. He has a flat, a job, loads of friends. He is completely physically dependent and he needs a ventilator at night, but there is so much that he can do , you just have to make it possible. It is a balancing act. This new drug sounds promising but don't forget the advances in daily care that are already there. I know I have to be realistic but hope and optimism have got this family through a lot. Live life and try not to think about death.
Siobhan Jowett, France,
Wow Peggy how fortunate you are to see everthing so black and white. We have 2 children with cystic fibrosis. Our oldest was misdiagnosed in the UK we are very lucky that he doesn't have significant lung dammage. We moved to NZ and had our second child that was diagnosed at 6 weeks with cystic fibrosis. We were devastated to find out that both our children had CF.I understand your viewpoint and how fantastic it would be to stamp out these horrific genetic disorders.
Sarah Millwater, Bay-Of-Islands, New Zealand
Because if you're a carrier for duchenne's does not mean that you will have a child with the disease. It's a fifty-fifty chance type thing. Also, even if you're not a carrier with the disease does not ensure you to never have a child with it. Genetic mutations can happen to anyone. Point being: even if people that are carriers make the choice to not have children does not ensure the disease won't continue to spread.
Lynnette, Graceville,
I always have the same reaction to sad stories like this. If you are carrying such a gene - why do you have children? Why ensure it continues and spreads?
PeggyW, Blyth, Northumberland