DMD is an x chromosone-linked genetic disorder that almost exclusively affects boys. Boys with DMD are born with a defective dystrophin gene so that little or no dystrophin is produced in their muscle cells - this is the protein that helps muscle cells maintain their structure. When the child is born he appears normal as initially any muscle damage that is caused can be replenished. However, eventually the condition causes severe muscle wasting so that by the time these boys are nine years old they will be in wheelchairs. From here deterioration is rapid. By their mid to late teens the boys can use few of their muscles and their lungs and heart are affected. Usually by the age of 20 a bout of pneumonia is what eventually kills them.
DMD is an "equal opportunity" condition. Although many cases are hereditary, a lot of cases today are caused by spontaneous mutations. In other words it can happen to anybody of any background or nationality - it is a case of "genetic roulette". Even though three boys are born with it every week in the UK there is no cure for DMD. In 1986 the structure of the dystrophin gene was discovered but little progress has been made since.
Parent Project UK has been set up by parents and friends of boys with DMD and is dedicated to finding a cure and viable treatments. We are one of the families involved in the setting up of Parent Project UK. Our son Saul, now 18 months, was diagnosed at five months with DMD after a routine blood test. Saul is our first child and the experience of diagnosis has been devastating. My husband Nick, a software engineer, describes the experience as feeling like "a death sentence" on the head of our son: "A cure is not an impossible dream. We need more resources and facilities."
At present there are very few research projects working to find a cure or treatment for DMD. In Oxford, Professor Kay Davies' team is looking at using a protein called utrophin which we all produce in very small quantities, to compensate for the lack of dystrophin in boys with DMD, which could help them to live longer and healthier lives.
In Charing Cross Hospital Dr Dominic Wells is working on using gene therapy to correct the faulty gene that prevents the production of dystrophin in the bodies of boys with DMD. This entails finding a "friendly virus" that could be used to carry the gene to every cell in the body. Although this seems a tall order, success has already been achieved in gene therapy recently in Great Ormond Street Hospital where the "bubble boy", whose body lacked an immune system, was cured.
There is also great hope in the recent government ruling on stem cells. By transferring stem cells that can be found in small quantities from healthy bone marrow to sufferers of DMD scientists believe a cure could be found. However there is a long way to go on this path and success will only be achieved by more laboratories receiving the funding to experiment further.
Parent Project UK aims to raise money for research into DMD both through its members but also through direct government funding. Professor Francesco Muntoni of the Hammersmith Hospital and Imperial College London says: "Government money should be ear-marked for research into DMD. At present the research funds for looking into the cause and treatment of this group of relatively rare disorders is very limited."
It is the Year 2002 and boys across the world are unable to live into middle age and the government appears to be doing little about it. Many of these boys are too young to speak for themselves so as their parents, friends and communities we have to do it for them.
