Janet's Story
Ssssssh......... Don't mention the 'D' word (May 2003)
When my two year old son Saul was 5 months old a routine blood test found that a protein called AST was raised slightly. "Nothing to worry about" we were told by the local paediatrician as he referred us to Kings College Hospital "just in case". Further tests showed a result that we could never have anticipated: Saul has Duchenne Muscular Dystrophy (DMD). All those yoga classes in Stoke Newington, the NCT breathing exercises on bean bags and even Miriam Stoppard hadn't prepared us for the pain this news brought.
DMD means that Saul�s muscles will waste away so much that by the time he is ten years old he will be wheelchair bound, and by the time he is twenty he will probably be dead. Infact his muscles are deteriorating now, but you can't see it yet. It's hard to imagine that this energetic and inquisitive two year old , "Wass at ?" is his favourite phrase, is destined to a short life of very poor quality. Every time he achieves anything and comes running towards me for congratulations the joy and euphoria I feel is pierced with pain. It's the cruellest of jokes, the most heartless of games - we watch eagerly as Saul learns to run and jump, climb stairs and feed himself, knowing that over the next ten years these are things he won't be able to do.
There is no cure for DMD. It's a genetic condition that is X-chromosome linked meaning ninety nine percent of sufferers are boys. It is caused by a fault on the dystrophin gene which prevents the body from producing the protein called dystrophin. This protein helps to protect muscles and keep them strong, when it is missing the muscles deteriorate at a much faster rate and are unable to regenerate. At the moment Saul's muscles are able to cope with this, but by the time he reaches four or five they will be permanently damaged. Around 3,500 boys suffer from DMD in the UK. This means that around 2-3 boys are born with it every week, and around 100 boys die of it every year. This is a national disaster, a human tragedy, a human rights issue, surely? If one hundred boys perished in a train crash, there would be a national outcry. Tony Blair would be expected to rush home from the Seychelles and give a speech of condolence to the families, questions would be asked in Parliament, the Pope might even get involved. But families of boys with DMD continue to suffer in silence and isolation while our communities grow poorer from the loss of these young lives. And DMD knows no boundaries of class or race, religion or background. Historically, most cases have been inherited from families through the mother. However today, as in Saul's case and a number of boys that we know of, many new cases are caused by "genetic mutations". These occur for some unknown reason at the time of conception. In other words, it is a case of genetic roulette : this could happen to anyone.
When we first got Saul's diagnosis, my husband and I were told how glad we should be that things had moved on in the past few years. Now boys with DMD can live to the age of twenty two, and there is night ventilation equipment available to help them breathe at night. Of course we welcome anything that can help Saul but these small offerings do not give our son his life back.
In 1986 scientists around the world raced to be the first ones to discover the dystrophin gene. Since then there has been little interest in finding a cure. And there is one big reason for this : money. The Government funds next to no work on finding a cure boys with DMD. The small amount of research that is happening gets its money from charities. There are some amazing scientists out there working long hours so that they can work on DMD, but this will never get past the mouse stage unless the government begins to fund research into DMD properly. Thanks to large amounts of funding and magnificent research, over 80% of Childhood Leukaemia can now be cured. Proper funding into research has huge consequences: the best young scientists will choose to use their talents where they can be paid well and gain respect; highly experienced scientists will spend time applying for grants knowing they stand a good chance of funding their projects. Research into DMD however, is seen as a poor career move with no kudos or government backing. There are at least six research projects on the shelf in the UK alone that I know of, ranging from gene therapy projects to work with proteins such as utrophin that can compensate for our sons� lack of dystrophin in their bodies and myostatin, the protein that stops our muscles from developing too much, all just waiting for the funding.
One thing we noticed in the dark days after Saul's diagnosis was how little anyone knew about Duchenne Muscular Dystrophy. Even our GP seemed to get it muddled up with Multiple Sclerosis. It is still beyond my comprehension that this is a child-killer disease, and yet nobody seems to have heard of it. The money is crucial to this I'm sure, and years of massive underfunding to research must have left its mark. But it's not just that. A refusal to talk about death, and the unwillingness to "get people�s hopes up" has disempowered parents and boys with DMD. We are told "not to expect miracles" and are made to feel unreasonable if we complain about the lack of hope. If we mention death there is an uncomfortable silence or lots of shuffling of paper. One friend grabbed her son and ran out of my house after I I told her, another simply said "Oh please don't talk about it, I can't bear it." If it was fifty years ago then I might well shut up and just try to give Saul the best life possible without expecting a cure or treatment to be found. But now, since the discovery of the structure of the gene in 1986, things should be different.
Last February we set up Parent Project UK, a parent-led charity dedicated to raising funds for research to find a cure for DMD. We have one full time worker at the moment and through a variety of local and national fund-raising events across the country, from balls to car boot sales, concerts, football matches, a "Love Run" around Battersea Park at Valentines, we have raised around £50,000 which will be used to fund existing research in the UK. Fantastic as this is, it will never be enough to find a cure for our sons : for this we need Government support and funding. In October 2002 families and supporters marched on Downing Street to present 7000 signatures demanding that our sons have a right to survive. One grandparent walked there from Peterborough. Researchers, MPs and families met in the House of Commons to highlight the plight of DMD sufferers. From this the All Party Group for Muscular Dystrophy has been formed which is chaired by Kevin Brennan (MP for Cardiff West). This group, along with three other charities is sponsoring the "Race Against Time" charter, asking people to sign and support us in asking the Government for £20million over three years for research into DMD
For us and other families and communities it is a race against time. Saul is two, and if we are to have hope for the future we need that funding now. In the meantime parents will continue to shout about what is happening to them. We will not be fobbed off or told to be quiet. Gone are the days of suffering in silence and isolation, not daring to the mention the d word in case we offend. Our sons are dying, even now as I watch Saul run towards me from the garden carrying a bucket filled with sand, I know that we have so little time.