§ Mr. Colin Pickthall (West Lancashire) (Lab)
I am grateful to have the opportunity to raise the subject of Ehlers Danlos disease. For reasons that will become obvious, I would have been even more grateful to have secured the debate six months ago when I first started applying for it.
About nine months ago, a young woman attended my advice surgery in Ormskirk. She was in considerable distress, and informed me that she suffered from Ehlers Danlos syndrome. I had never heard of it. It turns out that the syndrome is caused by a genetic defect in collagen, the body's connective tissue. EDS is characterised by skin extensibility, joint hypermobility and tissue fragility. I am told that that condition allowed some individuals to become contortionists—perhaps it still does. It may be the only useful thing to come out of it.
The syndrome is classified into six major types, each of which runs true in particular families. EDS can affect males and females of all races and all ethnic backgrounds. The prognosis depends upon the specific type. In type IV, for example, life expectancy can be shortened owing to the rupture of vessels and organs in the body. For women with EDS who have types 1, II or IV, pregnancy can be life-threatening.
EDS can result in easy splitting of the skin. Gaping scars can be created by even minor blows or buffets. The skin can fold, which can be dramatic. It can mean tumours and spheroids under the skin, which victims have described as like having ball bearings under the skin. Some suffer the dislocation of joints and unstable joints, including congenital hip dislocation. It can lead to chronic joint and limb pain. Ruptures and varicose veins become more common. It car also lead to gum disease, gastro-intestinal diverticuli premature aging and bladder conditions; and the external scarring involved can be so severe as to load to permanent disfigurement. At its worst, and depending on the type, it can give rise to continuous, excruciating pain.
My constituent had been diagnosed as suffering from type IV. As I said, that can result in the life-threatening rupture of vessels and organs. Expertise on the syndrome seems pretty scarce in the NHS. I shall come to an exception to that criticism shortly. My constituent had been referred to the dermatology unit at Leigh. There, she had simply been handed photocopy of the relevant pages of a medical text book. She took them home to read. She read them with horror. Under the entry for type IV, she found the following:The lifespan of patients with EDS IV is generally shorter than that of their unaffected siblings; the mean age of death is in the early 30s for women".My constituent was 29. It is not hard to imagine the psychological shock. She was shattered and utterly demoralised. Having thus far been able to hold down a responsible job, she found it impossible with the idea in her mind that within a few months she could be dead.
It is not my purpose today to hang out the Leigh unit to dry. The incident—being handed such documents to read—has properly been tackled by Brian Strett, the chairman of the Wrightington, Wigan and Leigh trust, following my complaints. I have no further complaint 190WH about that. I do not think that a patient will receive such a response there again. I have related the incident only to exemplify the paucity of attention and resource committed to EDS.
The syndrome is quite rare. It is estimated that about one person in 5,000 might have a variant of EDS. Some people's symptoms are no doubt mild. However, one in 5,000 means that you, Mr. Deputy Speaker, I, my hon. Friend the Minister and every other Member of Parliament probably have between 12 and 15 constituents who suffer from the condition.
There is an EDS support group. Its fund raising manager is a very active lady, Mrs. Rae Mould, who lives in Rufforth in north Yorkshire. She sent me some helpful briefings. They point out, for example, that the syndrome can sometimes go undetected because it often has no outward symptoms. At other times, the bruising that can very easily occur in people with the condition can be and has been misinterpreted as the result of self-harm or even physical abuse. That is particularly important in relation to children who suffer from the condition. There can also be chronic joint or limb pain that shows nothing on X-rays or in similar examinations.
My constituent was able to inform me, because she had done some research of her own, that there was someone in the NHS who offered clinical advice on and diagnosis of EDS. That person is Professor Michael Pope, who works out of Chelsea and Westminster hospital and works part of the time in Cardiff. I contacted Mike Pope, who was good enough to find a slot for my constituent, so that he could meet her and diagnose her problems. That is not an easy matter for a man whose expertise is in huge national demand. The situation is that if he can fit in the people who are referred to him, they have to travel to London, which is not always easy. Nevertheless, he found a slot for my constituent and she visited him.
The one bright aspect in this sorry tale is that, after examining my constituent, Professor Pope was able to tell her that her condition was not the life-threatening type IV, as she previously thought. I met her some weeks later, by sheer accident, in her workplace, which is the Co-op bank in Skelmersdale. The change in her demeanour was wonderful, as we would expect of someone who had been given a reprieve from a death sentence. That was one of those encounters that make being an MP worth while—we do not have enough of them, perhaps. Incidentally, I should refer on the record to the outstanding support that has been given to her by the Co-op bank and, in particular, her immediate supervisor.
Even more inspiring was a meeting that I subsequently had with Professor Pope. He is a remarkable man, typical of everything that is best about the NHS. For a long period, he has refused to do any work on this matter in the private sector. He described to me how, over the years, the funding made available to his unit, which was diagnosing and researching this problem, had been steadily eroded. He described how between 1976 and 1985 his group, working in the then clinical research centre, led the field in Europe in research on connective tissue genetics. I will quote him directly, because I could not possibly summarise the achievements that he set out: 191WHAmongst our discoveries were the first collagen type I and II errors in osteogenesis imperfecta and various EDS subtypes … and the first collagen V mutation on EDS I and II and also the first British collagen type VII and collagen type II mutations in epidermolysis bullosa dystrophica and the Stickler Syndrome.There was a lot of Latin in that, Mr. Deputy Speaker, which you would be much more able to pronounce than I am.
For a time, the Medical Research Council's decent funding meant that sufferers were referred to Professor Pope for clinical classification, genetic counselling and molecular diagnosis. At the time, that was pretty satisfactory by all accounts. After the closure of the clinical research centre, the group was transferred to Cambridge in 1995, to Cardiff in 1997 and to London in 2001. Each move was accompanied by diminished resources and progressive contraction, which led inexorably to the skeleton service that he is now able to conduct. He also ran the Institute of Medical Genetics in Cardiff. I understand that the referrals from health authorities across the country cost about £600 each.
In late 2000, the MRC withdrew its support. A self-fulfilling process goes on, where funding is reduced and reduced, so the operation is reduced, and eventually the MRC says that it cannot fund the operation because it is too small and cannot carry out sufficient work. Professor Pope's unit, if I can call it that, is left to scrape along, with funding raised voluntarily by the EDS support group supporting a small budget each year from Chelsea and Westminster.
It is now pretty impossible to secure direct funding from the NHS or from research sources to assist in such work. The laboratory facilities, the cell culture collection and the records archive are now all in danger of disintegrating—indeed, they might already have done so. Professor Pope has been operating in the area of EDS more or less pro bono.
The most alarming fact is that Professor Pope's scheduled retirement date is next month. Who is going to do the work that Professor Pope did, which made such a difference to my constituent's lives and to so many others? After July, there might be no centre of expertise to assist British citizens suffering from this highly complex condition, which is difficult to diagnose precisely and involves lifelong disabilities and even early death. That is clearly not acceptable.
I know that various colleagues in Parliament have raised their worries on the subject in letters, in parliamentary questions, and in an early-day motion tabled by my hon. Friend the Member for Lancaster and Wyre (Mr. Dawson). My right hon. Friend the Prime Minister has a constituent—a teenage girl—whose case he has pursued, as has my right hon. Friend the Chancellor of the Exchequer. The right hon. Member for Berwick-upon-Tweed (Mr. Beith) has raised the issue in the House, as has the hon. Member for Vale of York (Miss McIntosh). Having looked at the matter from the outside, I believe that there is clearly a need for a centralised UK service, preserving and building on the service offered by Professor Pope and his colleagues. I hope that my hon. Friend the Minister will assure us that the Department will take the matter seriously, will seek the means to fund the service and set it on a solid foundation, and will do so quickly before it is totally lost.
192WH My description has only skated over the surface of the problem. I clearly have no clinical expertise, as is probably obvious, and the NHS funding systems amaze me. I recommend the Minister to take an early opportunity to meet Professor Pope to get the benefit of his detailed knowledge and to assist him and his successors—be there any—in providing properly for constituents whose conditions are hard enough to bear without the added burden of not knowing where or when to seek help, or for how long that help will be on hand.
§ The Parliamentary Under-Secretary of State for Health (Miss Melanie Johnson)
I congratulate my hon. Friend the Member for West Lancashire (Mr. Pickthall) on securing this adjournment debate; I hear that he has been battling away to secure one for a long time. I know that he has a particular interest in the disease and has asked about it before, so I welcome this opportunity to respond to him.
I join my hon. Friend in recognising how distressing the condition is for patients, their carers and families. Sufferers can experience a wide range of problems and disabilities. I pay tribute to work done to help patients and families by voluntary organisations such as the Ehlers Danlos Syndrome support group, which helps to fund research into the condition. It is important to raise public awareness of less well-known diseases such as EDS, and I hope I that this debate will help to achieve that.
The provision of treatment for EDS patients is part of the responsibility of primary care trusts and other local stakeholders. They are charged with making arrangements for the health care of their local populations because they are closest to the people that they serve and best placed to respond sensitively to their needs. People with Ehlers Danlos Syndrome also have access to a range of specialists depending on the individual diagnoses. Those specialists include orthopaedic surgeons, rheumatologists, cardiologists, vascular surgeons, neurosurgeons, dermatologists and clinical geneticists.
I was distressed to hear about the experience of my hon. Friend's constituent. That cannot have been the best way to learn about the consequences of a possible condition, and I am glad to hear that he has successfully pursued and resolved the issue locally with the trust chair.
Important work is also being done for EDS patients by the connective tissues genetics group at the Chelsea and Westminster hospital, under the leadership of Professor Pope, of whom my hon. Friend has spoken so warmly. He and his team provide specialised multidisciplinary clinical genetic diagnosis care and laboratory analysis for paediatric and adult patients from families with a spectrum of inherited defects of connective tissue, including EDS. Patients are referred from regional genetic units or from other regional or local sub-specialists.
Since the 1970s, the unit has achieved a national and international reputation for effective comprehensive clinical and diagnostic management of patients with inherited defects of connective tissue. The team is also active in teaching and has pioneered research at the 193WH leading edge of clinical practice. I say to my hon. Friend that there are two separate—perhaps not unconnected—issues. There is a difference between the future funding of the service for patients and the question of research.
I shall not go into the details of the condition because my hon. Friend has already described in detail some of the many consequences of having EDS and its different facets. There is no effective cure for it, although the condition can be managed and simple precautionary measures can greatly lessen the chances of accidental trauma, scarring and bruising. It is important to recognise that there are balances and difficult issues, certainly for children, in making those balances.
I understand why patients with genetic diseases, including EDS, and their families are calling for greater research effort to be applied in this area. The Government are committed to investing money in genetic research, which offers enormous potential to improve our health and health care. Increasing understanding of genetics will bring more accurate diagnoses, more personalised prediction of risk and more targeted and effective use of existing drugs. It will also provide new gene-based drugs and therapies, as well as prevention and treatment regimes tailored according to a person's individual genetic profile. EDS is one of a number of conditions, and we believe that there are about 750,000 patients nationally with incurable single gene disorders, which are particularly difficult.
Gene therapy offers hope for many people for whom there is currently none. It is to address, that point that the Department is supporting gene therapy research into single gene disorders. As with any medical research, it is not possible to predict accurately when treatments might become available or which approaches will ultimately prove effective. That is the nature of research, but I share the hopes of the many parents, carers and patients that gene therapy will become a viable treatment for inherited disorders such as EDS.
Hon. Members will recall that we announced £30 million to develop specialised genetic services in April 2001, and we have made further funding available for this important area. In June 2003, our White Paper, "Our inheritance, our future—realising the potential of genetics in the NHS", set out the Government's commitment to developing genetics knowledge, skills and provision in the NHS by investing more than £50 million over the next three years. As well as that, the Medical Research Council spent £59.2 million on genetics, molecular structure and dynamics research in 2001–02.
The funding emphasis is translational, which means bringing the benefits of research into the clinic. Our vision is for the NHS to lead the world in taking maximum advantage of the safe, effective and ethical application of the new genetic knowledge and technologies for all patients as soon as they become available. In time, we should be able to assess the risk that an individual has of developing disease, not only for single gene disorders such as EDS and cystic fibrosis but for our country's biggest killers—cancer and coronary heart disease—as well as conditions such as diabetes that limit people's lives.
The potential is immense. Although genetics will never mean a disease-free existence, greater understanding of it is one of our best allies in the war 194WH against disease and long-term conditions. I hope that, over time, the research will provide a breakthrough in the understanding and treatment of genetic diseases such as EDS.
My hon. Friend made some comments about the role of the MRC, and I am aware that the council is not currently funding research into EDS, although it funds a number of research projects into connective tissue and collagen physiology. The MRC welcomes high-quality applications for support into any aspect of human health, and they are judged in open competition with other demands on funding.
As I am sure that my hon. Friend appreciates, the MRC is an independent body that receives its grant-in-aid from the Office of Science and Technology. It is a long-standing and important principle of successive Governments that they do not prescribe to the individual research councils the detail of how they should distribute resources between competing priorities. That is something that researchers and research users best decide.
§ Mr. Pickthall
I appreciate what my hon. Friend is saying about the general efforts of the Government and NHS in genetic research. I welcome and applaud that work. However, in this specific case, we have a unit that does both diagnostic and research work, and as far as I can ascertain, it is the only place in the country where patients such as my constituent can ascertain the nature of the disorder and get expert advice. Such facilities do not exist elsewhere, and the unit is about to collapse. That is the centre of my concern.
§ Miss Johnson
That is why I made a distinction between research, on which the research funding bodies make the decisions, and the question of provision for patients, which is primarily a matter for PCTs. For something as specialised as EDS, the arrangements normally involve one or several centres. I understand that work goes on at other places in the country; we do not have the details here, but centres obviously provide services to EDS patients, including one in my hon. Friend's area. Other provisions are certainly made for patients.
I understand that an unsuccessful bid was made to the National Specialist Commissioning Advisory Group in 2003. The question of centralised specialist provision might be considered, but I cannot comment on that. I suggest that my hon. Friend pursues the matter with the Under-Secretary of State for Health, my hon. Friend the Member for South Thanet (Dr. Ladyman). He deals with such matters on a day-to-day basis, especially the question of specialist commissioning in relation to the provision of service.
I have made it clear that the MRC considers bids on a competitive basis; it considers the ability to compete. Research excellence and its importance to health will continue to be the primary considerations in its funding decisions, in which the Government have never been directly involved. We need to bear in mind that its funding decisions on research bids are made largely on scientific opportunity and the likelihood of scientific development.
In connection with EDS being a long-term medical condition, my hon. Friend did not mention the work on long-term conditions being done by the national service 195WH framework. It will focus on services for people with neurological conditions because that is an area of real need. We know that services in many areas are still patchy, with some long waiting lists and other inequalities. It cannot cover all long-term conditions, or the entire disability agenda, but we need to be realistic and pragmatic in our response. However, we think that when the national service framework comes out, it will include models of care, and that it will show how users and carers can be supported with information that can be taken up by other medical specialties—information that might be relevant in particular cases. There may also be benefits for everyone on issues such as access to rehabilitation, equipment, adaptations and other support.
I hope that my hon. Friend will agree that we are sympathetic to the needs of patients with EDS. We believe that initiatives such as the genetic strategy and the national service framework will make life better for patients with EDS, and their families and their carers.
On the question of commissioning arrangements and the way in which primary care trusts provide services for patients with that range of conditions, I hope that my hon. Friend the Under-Secretary will be able to find time in his diary to meet my hon. Friend the Member for West Lancashire to discuss whether we should consider having such services across the country and how they should be provided and funded. I cannot make any commitment on his behalf, but it is a discussion worth having.
§ Sitting suspended for a Division in the House.
§ On resuming—