Motor neurone disease killed my father
A new documentary highlights how devastating the condition can be - but research does give some cause for optimism




Susan Greenwood

I wish I could have made this movie without having the disease,” Ben Byer says. “Now that would have been talent.” His words echo over the closing credits of his new film Indestructible, a documentary revealing the bewilderment of a young man facing a fate that is as certain as it is terrifying.

Motor neurone disease (MND) was diagnosed in Byer at the age of 31. It's a progressive condition that damages the nervous system, wasting and weakening the body's muscles. It acts swiftly - life expectancy is 18 months to four years. Sufferers are compelled to watch helplessly as their bodies shut down bit by bit - 83 per cent die from respiratory failure. In the UK it kills five people a day and 5,000 people at any time are living with the disease. There is no cure, no answers. After diagnosis, sufferers' main contact with the medical profession is the monitoring of their decline. MND remains a blot on the score sheet of medical progress.

At the premiere of Indestructible in Chicago last month, I thought of my father. I felt the softness of the skin on his hands that lay useless at his sides. I could see his blue eyes, expressive and vibrant, when movement in his face was so difficult. It had begun with Dad noticing that winding his watch took more effort than before. A year later, with doctors at a loss to explain it, MND was diagnosed.

The one drug on the market - Riluzole - has a marginal effect. It slows the wasting of muscles by two months, which means roughly the same period without a ventilator. But at the start of a patient's decline, being offered only eight weeks seems a rather hopeless prospect.

The swiftness and sureness of the disease makes it an unappealing investment for pharmaceutical companies, so academic institutions are the main funding bodies for research. Yet compared with other neurological diseases, this has been low. Between 1999 and 2004, 6,000 people in the UK died from MND, and 92 from vCJD. In the same period £22 million was spent on vCJD research and only £8 million on MND. It is easy to see how MND patients can feel forgotten and isolated.

In the absence of nurses fully acquainted with problems facing MND patients, my mother became an experienced carer. Dad remained, as he had always been, the pillar around which we all revolved. If he was ever bowed by the weight of his prognosis he never showed it. While the disease was relentless in its gradual stripping away of his physical freedom, it never affected his positivity.

But treatment for MND is about to turn a corner. Last week scientists from the Harvard Stem Cell Institute, Massachusetts, announced that they have developed a way to create limitless numbers of diseased cells for use in research that could pave the way for treatments for genetic diseases such as Parkinson's and MND. Doctors are also now able, through laser capture micro-dissection, to study motor neurones in intricate detail.

This has allowed them to firm up once-elusive risk factors. The top three? Maleness - men seem to be more susceptible to developing the disease than women. Secondly, middle age - this appears to be when a higher proportion of patients get it - yet about 2 per cent of sufferers are in their early twenties and it has been known to affect children as spinal muscular atrophy.

Thirdly, it seems to attack sporty types more. A study of Italian professional footballers found the incidence of MND to be seven times higher than expected in men of that age. It is possible, says Pamela Shaw, Professor of Neurology at the University of Sheffield, that a gene susceptibility to MND could be exacerbated by exercise.

Past study of MND has been well-intentioned if fragmented. With a lack of neurologists in the field, research was sacrificed in favour of the practical care of patients. My father's journey with MND took him to Italy and America to speak to people who had their own small research projects. He found he was working as a conduit informing UK researchers about what others abroad were doing. What was needed was a centre of excellence for study of the disease, a single institution that could develop the facilities to exploit the potential of modern neuroscience.

Last month Shaw secured £15 million to begin the creation of Europe's first such centre, the Sheffield Institute for Translational Neuroscience (SiTran). When completed in November next year it will house around 75 experts with the sole purpose of harnessing scientific research for clinical therapies. Shaw says: “MND is so complicated that you need a range of skills to look for solutions. We need teamwork and different scientific skills if we are going to solve this. Having all that under one roof will raise the profile of the disease and enable us to attract funding.”

The primary aim of SiTran is research. Patients will benefit from discoveries in the lab being translated into practical clinical therapies. People suffering from the disease will receive treatment as part of clinical trials, but the centre is foremost an opportunity for focused study of MND.

Shaw says: “I wouldn't say there is a cure around the corner but the horror of the disease is coming to public attention as the tools of science have developed so we at least stand a chance.”

And big biomedical companies are also beginning to see a market in MND where death rates had previously made investment unappealing. Diaphragm pacemakers, which pace breathing like a heart pacemaker, have successfully been implanted in MND patients in the US and Germany. Timothy Liddell, from Timantech, which distributes the pacemakers developed by Synapse Biomedical, says: “Pacemakers can extend a patient's life by around two years.” Trials in the UK for pacemakers are taking place now at King's College, London.

My mother described Dad's illness as like watching a photograph of the love of her life being rubbed out a little more each day. For me, it was like watching my best friend being tortured as he became a prisoner inside his own body. You feel intensely the bureaucracy surrounding drug trials - they involve time periods that are unrealistic. In May my dad died aged 57 and even as he passed away he was astounded that it had come to this. Ben Byer died in July, aged 36. They were united by the belief that, however dire the future might look, there is hope.

http://www.timesonline.co.uk:80/tol/...cle4487470.ece