The final item of business is a members' business debate on motion S2M-5521, in the name of Sylvia Jackson, on Duchenne muscular dystrophy. The debate will be concluded without any question being put.
That the Parliament expresses concern that people who suffer from Duchenne Muscular Dystrophy (DMD), a severe and progressive genetic muscle wasting disease predominantly affecting boys and for which there is currently no cure, are dying in Scotland on average 10 years earlier then their counterparts in England; believes that an improvement in the life expectancy and experiences of these young people must be a priority for the Scottish Executive; considers that, in addition to enhanced medical research, better support services, equipment and adapted housing can make a massive difference to the quality of life of people with DMD and can contribute to extending their life expectancy; welcomes the development in 2003 of the Scottish Muscle Network, based at Yorkhill, as a national managed clinical network benefiting patients in Stirling and across Scotland, but believes that more must be done to improve both life quality and life expectancy for people with DMD in Scotland.
I am pleased to speak to the motion in Sylvia Jackson's name, which I was involved in drafting. Unfortunately, Sylvia is unwell. She is upset at missing the debate because she is totally committed to gaining improvements in the life expectancy and experiences of young people suffering from Duchenne muscular dystrophy.
The issues were first brought to Sylvia Jackson's attention by her constituent Dean Widd on behalf of DMD sufferers in Scotland. On Sylvia's behalf, I put on record her thanks to Dean for his work. I know that, if re-elected, like me and others Sylvia will continue to press the Government on behalf of her constituents.
I first became aware of the issues to do with DMD when I was contacted by Sheila Crilly, gran of a lovely wee four-year-old boy from Coatbridge, Alan James Gilmour—otherwise known as AJ—who was diagnosed with DMD just over a year ago. AJ and his family visited the Scottish Parliament as part of a lobby last June and the family attended a meeting in the evening organised by Sylvia Jackson. The family and friends of AJ are currently fundraising to allow him to swim with dolphins. I wish them all the best.
DMD is a rare condition that is caused by an absence of dystrophin, which is a protein that helps to keep muscle cells intact. The lack of that protein causes a generalised weakness and muscle wasting, first affecting the hips, pelvic
Young boys in Scotland who are affected are dying on average 10 years earlier than their counterparts in north England and much earlier than those in some other countries such as Denmark. Scottish parents of children with DMD, including my constituents, were recently very saddened to hear of the death of Graham Jackson, an 18-year-old Duchenne sufferer from Lanarkshire. I pass on our condolences to Graham's family.
Those parents have many questions for the Scottish Executive, some of which were asked in the recent race against time campaign. I will come to them shortly. However, I say to the minister that the most important question is, why are Scottish children dying prematurely? That is a shocking state of affairs. I would be grateful if he would tell us how the Executive intends to increase the life expectancy of children with DMD.
Colleagues will no doubt raise specific issues. Before they do, I will highlight concerns that have come to my attention.
Improving the quality of life of children with DMD is important if we want to improve their life expectancy. We must ensure that their experiences are as good as they can be. Access to physiotherapy is patchy, but good physiotherapy support can play an important role in helping future mobility. Access to neurorespiratory services is a significant factor in adult survival rates for those with DMD. In that context, assisted ventilation in Scotland requires more funding.
The attention that has been given to diagnosing spinal curvature and the surveillance of heart and breathing muscles has improved. I note the work of the Scottish muscle network in that regard. I am sure that the minister will have more to say about its work in his closing remarks. However, AJ's mum, Clare, has told me that Glasgow leads the world in cardiac research, but not for boys whose hearts are affected by DMD. She wanted that point to be made in the debate.
Wheelchair provision is another major issue. Wheelchair provision can substantially improve the quality of people's lives, but it is very patchy. Indeed, the matter has been a news item this week following the outcome of the review of
Suitable housing and the provision of appropriate adaptations are extremely contentious issues, but suitable housing and appropriate adaptations are vital for improving quality of life. In Denmark in 2005, only one adult with DMD over the age of 23 did not live in his own home; in Scotland that year, only one adult with DMD lived in his own home. That is unacceptable. Perhaps the minister will comment on the relevant provisions of the Housing (Scotland) Act 2006 and say whether they will change the current means-tested approach that is taken under the housing improvement grant scheme. Elsewhere in the UK, there is a set grant amount up to £30,000, which is not means tested.
Finally, I would appreciate comments on the steps that have been taken to encourage and support research on DMD in Scotland and on the lessons that are being learned from research elsewhere. I lodged written parliamentary questions on those matters earlier in the year, but I did not receive robust responses. I am particularly interested in research funding for exon skipping as a possible treatment for DMD.
The issues that I have mentioned are the main issues that people have raised with me. I am sure that colleagues will raise other issues.
I will finish by quoting from a letter that was sent to me by AJ's other gran, Violet Gilmour, who has said things much better than I can. She said:
"My heart aches for A.J. when I think of the hurdles he will have to face in the future but we will be there for him to help him over the hurdles. He is such a happy and funny child, when A.J.'s around sadness is put aside.
We all hope and pray that things will change in Scotland and more help and grants will be made available to families of boys with DMD to give them a chance of a much better quality of life.
Hopefully this will happen soon and bring Scotland up to the same high level of care they have in Denmark."
I say to the minister that time is running out for young Scottish boys with DMD. If those boys were our own children, we would move heaven and earth to help them. The Government in particular has a responsibility to do all that it can to improve the life expectancy, quality of life and life experiences of those young people. It must make that responsibility a priority.
I welcome the people in the gallery who have come to listen to the debate and look forward to hearing what colleagues have to say. I hope that there will be a positive response from the minister. Again, I apologise on behalf of Sylvia Jackson, who would have liked to be here.
Like Elaine Smith, I am sorry that Sylvia Jackson has apparently been dumbstruck by laryngitis and is unable to speak in this members' business debate on a motion in her name. In her absence, I thank her for securing the debate and commend Elaine Smith for her comprehensive and moving opening speech.
Thirteen months ago, I knew nothing about Duchenne muscular dystrophy. I had not even heard of the condition until one morning in my mail I received a letter from a woman called Cecilia Keaveney, a member of the Irish Parliament who represents a constituency in County Donegal. She is also a fellow member of the British-Irish Inter-Parliamentary Body, on which I sit as one of the Scottish Parliament members. She told me that three young boys in her constituency had been diagnosed with DMD and that the prognosis was bleak, but that, here in Britain, a consortium that was working in collaboration with scientists in the Netherlands and Australia was developing exon skipping as a possible therapy. I will not attempt an explanation of that therapy, as the science of it is well beyond my capabilities. Suffice it to say that, if the therapy works, it could greatly improve the quality of life and increase the length of life of young men who suffer from the disease. Cecilia Keaveney's concern was that the initial funding for that research project was committed only until 2007 and that further support from the Government was necessary to sustain research into exon skipping.
As a result of that and a follow-up inquiry, I have taken up the matter with our Minister for Health and Community Care. I leave it to Lewis Macdonald to tell the chamber what he has told me about what is being done north and south of the border. It is interesting to note, from the terms of Sylvia Jackson's motion and what Elaine Smith has said tonight, that the survival rate in Scotland is inferior to that in parts of England—a fact that has been acknowledged by the minister in his correspondence with me. I know that we aspire to do better in Scotland and to match the English results.
I do not consider my own efforts to prod matters along on this subject to be anything other than extremely modest. I am grateful to the minister for the very full responses that he has given to my inquiries, which I have been able to relay back to our friend and colleague in Ireland. I describe the story of my involvement in the matter and how I came to learn about DMD simply to illustrate how dependent we are on one another. There are parents of young boys in Ireland who are waiting anxiously to see what our researchers can achieve to improve therapies and survival rates for their
I wish our doctors and scientists every success in their research into DMD, and I commend everyone who is involved in the care and treatment of young people who suffer from this dreadful disease.
Yesterday, we legislated with a glad heart to help sufferers from mesothelioma. In this important debate, we address the needs of a not dissimilarly sized group of sufferers of Duchenne muscular dystrophy. The difference, of course, is that we are addressing a condition that affects the young, whereas yesterday we discussed a condition that generally becomes apparent later in life. I join David McLetchie and others in thanking Sylvia Jackson for bringing the motion to the chamber for debate, and I thank Elaine Smith for stepping in with such good grace and effectiveness.
What quality of life does a young boy who suffers from DMD have and what should it be? As with everyone else, young DMD sufferers should have the widest possible experience in life. There should be humour, excitement and participation with peers in activities that are appropriate for young boys. At that level, having a short lifespan should not be a gloomy matter that we should worry about; the need is to cram into that shorter lifespan the experience that the rest of us can spread more thinly. Clive James, the Australian humorist, said:
"Do not take life too seriously. You will never get out of it alive."
None of us is going to get out of life alive, anyway.
We need to have a network of support and activities that allows youngsters with a seriously restricted lifespan to get as much out of life as those of us who are fortunate to live longer. Their expectations of quality of life should be as high as ours—that is only reasonable.
The boys—from the reading that I have done, there are few girls—who suffer from DMD are not yet getting the quality of life that is available, given that their life expectancy is 10 years less than their counterparts south of the border. I was particularly disturbed by the fact that only one in 25 sufferers is able to stay at home. Next week, I will join the Marie Curie bus as part of a campaign to ensure
Clearly, not enough research is being done. Research on DMD is not the kind of research that is likely to be undertaken by commercial companies because, frankly, there are not enough sufferers to guarantee the commercial returns that might be available from work on more widespread diseases, therefore the state, as the proxy for wider society, has a particular role in funding such research. Of course, genetics research now receives much more funding than was previously the case, and such work can be spread across the world thanks to good communications. I hope that Scotland can play its part, as it has done so often in the past, as a leader in this important area of scientific research.
As well as all that high-flown stuff, we also need to work on the practical stuff, such as our ability to provide wheelchairs to support sufferers when their mobility becomes seriously restricted. For such a rapidly progressing condition, we need to ensure that wheelchairs that are specific to the child's condition at a particular point are delivered quickly enough to ensure that they are still appropriate. The wheelchair review highlighted the disturbing point that wheelchairs often seem to be delivered too late to be useful to people whose condition has progressed.
I conclude by making an obvious point that has not been made so far. A number of organisations support people who suffer from DMD and support their families. We need to ensure that we support the families, because having a child whose life expectancy is restricted and whose condition is severe may have a significant effect on parents and friends. I hope that, like other members who are supporting DMD sufferers in this short debate, the minister will offer some words of encouragement in whatever policy areas he can.
When I was a community paediatrician, I came across perhaps four or five cases—I was trying to count them—of boys who had Duchenne muscular dystrophy. I want to tell the story of one of them. I knew him from the moment of diagnosis, because he attended one of the schools for which I was responsible in my role as a school doctor. He immediately sprang to mind when I saw the motion for this debate, which I am glad is taking place.
The boy was first diagnosed at the age of about four and a half. He was in the nursery at the
I could have mapped out what was going to happen. When the boy started primary school he could walk and he could just about keep up with his peers. Gradually, however, he could no longer manage the stairs, and we had to put in railings. We then had to put in ramps when he started to use a wheelchair. The journey that the boy took towards adolescence involved so many people, including doctors; physiotherapists; occupational therapists; the fire service—I will explain why in a moment; nursing staff; teaching staff; builders, who had to make the adaptations to the school and to the boy's house; and, primarily, the parents. This is where I will follow up something that Stewart Stevenson said. That normal, ordinary family, faced with a devastating diagnosis, showed the most amazing strength, and I will mention some of the ways in which they showed it later.
When the boy was due to transfer to his secondary school, it did not have a lift in it. Parts of it were on three floors, so we had to put a lift in. Nowadays, such a school would have been built with a lift, but it was an older building. The installation was carried out. By the way, that was where the fire service came in. An electric wheelchair is heavy. In a fire or fire drill, lifts cannot be used, but an electric wheelchair is much too heavy to bump down stairs. We had to get the fire service to show us how to evacuate the boy safely, which involved a special stretcher with straps on it that was kept at a particular place in the school. We might never think of having to do such things.
The boy had physiotherapy. There were issues around the use of the wheelchair and the need to get splints that fitted, that did not hurt and that kept pace with his growth. It was a labour-intensive process just to keep the boy going and to supply everything that was needed. Everybody showed great good will and tried to do what was required. However, there were many times when things could have gone wrong, simply because so many things were needed.
When the boy got an electric wheelchair—obviously, a child with a serious medical condition is entitled to transport to school on medical grounds—he did not avail himself of it often, but instead went with his pals and walked to school.
His parents showed immense strength. Their hearts must have been in their mouths when he was out on busy streets in his electric wheelchair. However, it was important to them that their son was socially integrated with his peers—and he was one of the crowd throughout his time at school. He was in a wheelchair, but he was very much one of the boys, which echoes what Stewart Stevenson said.
Research is very much needed, because although the number of sufferers is small, the diagnosis is devastating and there is no cure. We also need the basics to support the children, their families and everybody else who deals with them in the schools where they are taught, the houses where they life and the communities of which they are a part. The plea is not just for research money but for basic humanity in supporting these boys in their everyday lives, which should be as rich and full as possible.
I thank Elaine Smith, Sylvia Jackson and all the members who are present for their work in bringing the debate to the Parliament and raising the profile of Duchenne muscular dystrophy. Like many colleagues, notably David McLetchie, I thought until relatively recently that I knew at least a little about muscular dystrophy, although I remained entirely ignorant about Duchenne muscular dystrophy, but when the disease hit the sister of one of my best friends, its impact registered on me.
First, I heard that one of Sarah's sons had been diagnosed as having Duchenne muscular dystrophy and that it is a degenerative and ultimately fatal condition. Then I heard that her other son had also been diagnosed as having the condition. I find it difficult to comprehend how any family copes with such a diagnosis, but people are remarkably resilient. My reaction was shock, possibly horror. It was also fear. As a parent, I was
It was the next challenge to my ignorance that, for me, moved the subject from personal tragedy to something on which political action is called for. Parent Project UK, or PPUK, gave a presentation here in the Scottish Parliament last summer. We hard from parents, their children, specialists, voluntary organisations and charities. They impressed on us not just the impact of the disease but the fact that, if people are unlucky enough to be diagnosed with Duchenne, they are better off if they live in Denmark, Wales or England. In fact, it appears that they are better off in many places other than Scotland.
I apologise if I repeat some of the points Elaine Smith made, but I think that they are worth emphasising. In Denmark, the average age of death from DMD is 37. In Norway, it is only a little less than that. In the north-east of England, most young men with the disease survive to the age of 29, but in 1999 only 17 out of 236 DMD patients in Scotland had survived into adulthood. Although the figure has improved recently—there are now 37 adults in Scotland with the condition—there are 75 such adults in Denmark.
From what we were told at the PPUK presentation, it appears that there is nothing on offer in Denmark that is not available in this country, but patients in Denmark with DMD have far greater access to those treatments and to a level of care that is denied patients in Scotland. From an early age, patients in Denmark have access to therapeutics and to electric wheelchairs that lift them upright, and all adults with the disease have access to a car driven by their carers. In Scotland, only one of the 37 adults with DMD lives independently and it is interesting that he uses direct payments. In Denmark, 60 of the 75 adults with DMD live on their own in specially designed accommodation.
Patients with DMD need respiratory help such as that provided by ventilators. Although that can be expensive, it is available. Just as important is the fact that, in Denmark, the state addresses the vocational, social and employment needs of the young men concerned, which gives them a remarkable quality of life compared with that of sufferers here.
I mentioned that my initial reaction to the news that my friend's sister's child had DMD was quite negative. Unfortunately, it appears that such a response is all too typical. According to one of the parents who attended the lobby event, the attitude in this country seems to be along the lines of, "Your son has a terminal condition, so best make the most of your time with him while you have the
At the presentation, we heard the familiar story of parents battling for resources for their children. I am sure that we have all come across families who are already struggling with very difficult circumstances and feel that they have to take on the authorities that, in theory, are there to support and help them. One of the key differences between what happens in this country and elsewhere is in housing provision. We heard that, in Wales, £30,000 is made available to patients for house adaptations, whereas here the figures do not even come close to that amount. Patients are often the victims of a geographical lottery, depending on the local authority area in which they live. I hope that the minister can reassure me that when they are implemented, the reforms that were introduced by the Housing (Scotland) Act 2006 will reflect the needs of patients with DMD.
The recent wheelchair review is potentially highly encouraging, but patients are worried about its funding and implementation. Improvements could be made in cardiac care. If we were able to support a clinical trial for patients with DMD in Scotland, that would offer hope. NHS Quality Improvement Scotland should become involved in driving up standards of care, as I believe the Scottish muscle network has suggested.
Parents want to see movement on two fronts. As one grandparent put it, they want help with the practicalities dictated by their children's changing needs, while they continue to dare to hope that one of the many avenues of research worldwide will lead to a cure or, at least, to a means of making the symptoms less severe and prolonging life. I understand that it is difficult for ministers to make special cases and that policies must apply to all patients even-handedly, but I hope that the minister acknowledges the frustration that exists among families. We are not talking about a large number of sufferers, and a relatively small investment or improvement in services could make a huge difference to individual lives.
Chronic neuromuscular conditions often feature as subject matter for members' business debates, but this evening's debate is one of the few to highlight a condition that strikes in childhood and which predominantly affects young boys. All such conditions have a common thread—they are all relatively rare in population terms and they tend to be the Cinderellas of the NHS, because its focus is inevitably on the more
The needs of the groups of people who suffer from such conditions are similar. Medical research into the causes needs to be stepped up and better support services and equipment must be provided. Advice from specialist nurses and physiotherapists, adaptations to housing on the recommendation of occupational therapists and, in the case of DMD sufferers who also have learning difficulties, the support of specialist teaching staff can all make a tremendous difference to quality of life and, as the motion suggests, can enhance life expectancy.
In preparing for the debate, I read the Muscular Dystrophy Campaign's daily living factsheet, which made it clear that boys with DMD do best when they are educated in school and that, with careful planning, it is possible to ensure that a child's time at school can enhance his range of experiences and quality of life and provide opportunities to enjoy a wide variety of activities and develop friendships. Without that, life for these children can be very restricted and isolated.
Many boys with DMD have done very well at school, passing exams and even attaining university degrees. Some move on to jobs and many gain enormous pleasure from swimming, reading, painting, playing musical instruments or operating computers. However, such achievements are possible only if their talents and abilities are recognised and supported from an early age. Scotland is clearly some way behind other countries in that respect. As a result, the choice of school—mainstream or special needs, day school or boarding school—is important. The fact that pupils with DMD have different needs should be taken into account when their education is being planned, although it is reckoned that, with the right planning, most boys can be educated in a local mainstream school.
Future planning is also essential to ensure that, as the condition progresses, the necessary facilities, equipment and support are readily available. Regular reviews and assessments are therefore required and, as the children grow, there should be early transition planning for transfer between schools or to college. Moreover, children should not just become the passive recipients of care; they must be allowed to develop independence of thought and given the freedom to make choices.
Social integration is another essential ingredient of a happy, fulfilled life, and ensuring that that takes place will prove easier the earlier a child can be integrated into school. Although life can be very hard for sufferers, parents, teachers and friends, it is clear that with a positive attitude, appropriate training and proper support, most children will be
As most children with DMD will, by the age of 12, need to use a powered wheelchair at least some of the time, I want to touch on the issue of wheelchair supply. Although the minister's announcement this week of £1 million of interim funding for the wheelchair service in Scotland was very welcome, if long overdue, I have been told by the NHS wheelchair steering group that that is not enough to satisfy demand and that a £2.5 million shortfall in 2004-05 might rise to more than £3 million this year. There is a fear that future upgrading of funding could now be put on the back burner, which will allow provision to slip again.
According to the steering group, wheelchair services must be considered in the forthcoming spending review and should be properly funded thereafter. I hope that the minister will give that commitment this evening in the interests not only of the DMD sufferers for whom I am principally speaking but of the many people with chronic neuromuscular conditions who might need appropriate modern wheelchairs to achieve mobility.
I thank Sylvia Jackson for initiating this debate and support her motion.
First, I must thank Sylvia Jackson, who is absent, and Elaine Smith for giving Parliament this opportunity to focus on the impact of Duchenne muscular dystrophy on people's lives, including those of family members.
I acknowledge the points that have been made by members across the chamber. The case has been made that enhanced medical research, better support services, better equipment and adapted housing can make a major difference to the quality of life of people with DMD and, indeed, can help to extend their lives. I want to respond positively on that range of issues. We, too, want to ensure that people in Scotland with this condition can live as well as possible and enjoy the best possible quality of life.
Elaine Smith was right to highlight the important question of why the life expectancy of those with DMD in Scotland has been poorer than that elsewhere. As the commonest cause of death in such cases is respiratory failure, aggravated by scoliosis of the spine, our focus in improving survival rates must be on spinal and respiratory care.
Through the Scottish molecular genetics consortium and local genetic counselling services,
Elaine Smith mentioned the importance of the Scottish muscle network in improving treatment. Although there is still much to do, it is worth acknowledging the positive impact that the network has had since its inception in 1999. The network aims to improve the care of everyone in Scotland with a neuromuscular condition regardless of where they live by ensuring that they have access to local health, social care and education professionals who know about their condition and its complications. The network has also been working with respiratory physicians to develop a respiratory care strategy for muscular dystrophy that is standardised and equitable throughout Scotland. There has also been significant investment in the national service for the treatment of scoliosis, which has helped to increase capacity and reduce waiting times for the service and which is a start in reducing the impact of scoliosis on those with DMD.
Improvements have been achieved. One or two members mentioned that, since the establishment of the Scottish muscle network in 1999, the death rate has halved, which is significant, and the rate of survival beyond the age of 18 has increased threefold. That is not to say that we are complacent—far from it. Significant further improvement is required if Scotland is to achieve survival rates and quality of life that are comparable with those in other places. However, progress has been made and we want to continue in that direction.
People with muscular dystrophy of all types will benefit from the approach to the management of long-term conditions that we set out in "Delivering for Health", which describes a model of care in which services are provided as locally as possible and which regards patients and their carers as partners in the delivery of their care. Several members highlighted the issue of whether people with DMD will be able to stay at home. Clearly, the
Community health partnerships have a role in ensuring that NHS services are offered and delivered in an integrated way that responds to the individual's needs. Those with complex and frequently changing needs should have a key person who is charged with actively managing and co-ordinating all their care needs. A single shared assessment can help to co-ordinate a package of equipment and adaptations—members have mentioned that issue—which may come from health, housing and social care services. In that context, consideration of the person's home environment should become a routine part of the assessment process. "Getting it Right for Every Child" aims to ensure that children and young people and their families obtain support when they need it, through integrated working, joint assessments and better information sharing among agencies. That has a clear and direct relevance to the conditions that we are discussing.
Last month, we published the rehabilitation framework, which aims to help to equip patients and their carers with the skills that they need to manage their condition more effectively. For example, children with DMD can access community rehabilitation teams—specifically, physiotherapy services—either in specialist or in mainstream schools. For young adults with DMD, the rehabilitation framework should ensure that those services can be accessed at home. I hope that the framework's promotion of the use of assistive technologies will make them more readily available to people in future.
One or two members asked about the Housing (Scotland) Act 2006. The act will give all disabled people in Scotland a right to mandatory assistance for adaptations to their principal home and will allow ministers to specify the circumstances in which assistance must be in the form of grant. It removes the current statutory cost limit, allowing local authorities more freedom to assess the level of assistance that is needed. I hope that that produces benefits for many people.
Equipment has an important role to play. Some members mentioned that a review of national health service wheelchair and seating services has been carried out, to which the Executive responded formally in January. One of the key recommendations is that the wheelchair assessment process should clearly document the optimum rather than the minimum equipment requirements, to ensure that user and carer needs are met. I was pleased that, as Nanette Milne
We are working hard to ensure that services for people with a neuromuscular disorder are properly integrated; delivered by a multidisciplinary team; provided as close to people's homes as possible; and delivered in a way that is responsive to each person's needs. There is further encouragement to be had from the medical and genetic research that is under way internationally, giving hope to the families concerned.
Meeting closed at 17:51.