Monday 26 October 2009

Living with Duchenne: the lifethrualens project

I have just got back from a terrific conference over the weekend organized by Action Duchenne.

Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disease which affects about 1 in 3,000 boys/men (it is much rarer for girls/women to have DMD). A genetic glitch causes the boy's body to fail to produce a protein called dystrophin. This causes the muscles to weaken over time. Without treatment, a boy with DMD will typically be in a wheelchair around the age of 10 and will die of heart or respiratory failure in his teens.

In very recent years there have been advances in how the symptoms of DMD are managed and these have improved life expectancy and quality of life for many young men. Many boys with DMD are now living into their 20s and 30s - though some still die in their teens.

And there is still no cure for DMD. There is, as yet, no drug that can halt or slow down the underlying process of muscle degeneration. There have been major breakthroughs, and many of us are hopeful that there will be such a drug available in the near future. But we don't have it yet.

So you can imagine that it came as a shock when my wife (Kathy) and I were told in the summer of last year that our 5-year old son, Isaac, has DMD. Since the fateful day when we got Isaac's diagnosis, Kathy and I have been on a long and steep learning-curve as we have struggled to understand DMD, its effects, and how to respond to the challenges it poses.

We have had to liaise with a huge range of specialists: pediatricians who made the initial diagnosis; neuromuscular specialists; Speech Therapists; Occupational Therapists; educational psychologists; physiotherapists; dieticians; and special needs teachers and teaching assistants. We have had to arrange a Statement of Special Needs with the local education authority and find a school which we think will execute it effectively. The array of support we have received from within the 'welfare state' has been very good, often wonderful, though at times we have had to work hard to make the various bits of the welfare state join and work together. For parents of children with DMD, 'co-production' in the welfare state is not simply a trendy policy wonk concept, but a long-standing and continuing reality.

Throughout this process, Action Duchenne has been a great help to us. The annual conference brings parents together with medical specialists to discuss everything from physiotherapy exercises and how to talk to your son about DMD through to policy needs and the latest research on drug therapies. Action Duchenne provides a 'family' for those affected by DMD and, not least, a source of empowerment. Through its efforts to spread information and raise aspirations, Action Duchenne helps us go into those meetings with various representatives of the welfare state and - when necessary - demand what we need and should be getting.

In some future posts I will take up some of the key policy issues surrounding DMD, issues which I think would benefit from a bit of old-fashioned Fabian-style social policy research.

One issue, highlighted in the recent Walton Report from the All Party Parliamentary Group for Muscular Dystrophy, concerns the inequality in the standards of care for DMD boys across the UK. Basically, if you live close enough to Newcastle or London, care standards are - or can be - very good. But they can vary considerably elsewhere. Given how crucial high quality care is to life expectancy and quality of life for boys and men with DMD, this inequality in care standards is very alarming.

Another issue concerns the failure to develop adequate policies to reflect the fact that more and more DMD boys are growing into adulthood and wanting to move into higher education and jobs and live rewarding, adult lives.

But to start with, before we get to the policy, it might help us to get a sense of the lived reality of DMD. An excellent place to start is with the 'Life Thru a Lens' project. Nine young men with DMD have used photography to convey the reality of their lives.

Take the time to take a look.


Sunder Katwala said...


Thank you for writing this about Isaac's diagnosis. It is very good to hear about the work of Action Duchenne, particularly in what you say about the impressive way in which it provides a sense of family and community to parents and children.

Speaking personally, even as a parent, I think many of us would only have a vague sense of the overall impact over time which such a diagnosis would have on your family without experiencing something similar directly, so I am grateful to you for sharing the experience, and linking it up with the policy and research issues on which it will be interesting to hear more over time.

It was good to kick off with the Action Duchenne resources, and the exhibition, which I found useful and informative. A (very vague) thought is that it might be interesting to think about whether or how a series of Next Left posts could help to link up in some way with advocacy, academic or policy networks and resources in a way that was useful.

Stuart White said...

Thanks, Sunder. I'll definitely try to link to advocacy and academic networks in the way you suggest as and when I post on this subject again.

For now, I'll add just one statistic from the all-party Walton Report: average life expectancy for Duchenne boys/men in the South West of England is 19; in the North East (close to the specialist centre at Newcastle) it is 30. That inequality is almost certainly due to differences in the standard of care across the regions. Its pretty shocking to realise that the NHS delivers such variability of service to some of our most vulnerable fellow citizens.

Robert said...

Disability it takes time to get use too, I hope the lad gets all the help he needs. But the biggest help is the family around him it makes a hell of a difference. My wife has spina bifida, and I'm classed as being Paraplegic, but can walk with massive help, well waddle is a better word for it.

It's a fiight these days...

Stuart White said...

Robert: many thanks for your comment. This experience is certainly sensitizing me more generally to issues around equality and disability. I hope to draw out and explore some of these wider issues in future posts and welcome your feedback.