Rare Diseases

Alison Seabeck Excerpts

Tuesday 17th December 2013 Westminster Hall

[Charles Hendry (Wealden) (Con)]

I am delighted to have the chance to speak in this debate, Mr Bayley, and I congratulate the hon. Member for Strangford (Jim Shannon) on securing it. I have been in the House for more than 20 years in total, and I cannot remember having a debate on rare diseases in that time. This is an important subject that we need to address in a constructive way, as the hon. Gentleman has done.

Looking at figures before coming into the Chamber, I saw that there were about 6,000 rare diseases, which is a shockingly high figure. I do not think that many people realise just how many different types of diseases there are. As a parent, one has only to watch a programme such as “Children in Need” to see how many diseases are out there, to see illnesses that we have never even heard of, but that are having such a devastating effect on families and lives, and to see how much work still needs to be done in the area. If the debate helps to take that forward, that is all to the good.

I want to focus on two aspects: first, the families and voluntary groups that work in this space and secondly, some of the academic research that is being done into rare diseases. So much of the work in this area is done by families who have been affected by a child or a family member who has been unwell. The work that they then do to raise funds, either to support other families or to carry out research, is an incredibly important part of the equation.

I want to refer to two examples. The first, Charlie’s Challenge, was named after Charlie Boutwood, a constituent of mine, who was 20 months old when he was found to have a brain tumour. He survived thanks to incredible medical attention, but his parents set up the Charlie’s Challenge charity to put money into brain tumour research, particularly relating to children. Although brain tumours are the biggest single killer of all the cancers of children and young people under 40, less than 1% of the research into cancers is into brain tumours and particularly the effect on young people. The work of Charlie’s Challenge is to see how it can provide additional support and research funding into such an important area. The second is Tildy’s Trust, which was named after Matilda Curran, a young teenager—the daughter of a very close friend—who was found to have leukaemia and who died of it two years after it was discovered. Her parents set up Tildy’s Trust in order to provide support, research and funding for families who are going through similar circumstances.

Those are just two examples of a large number of such organisations, which are driven by incredible commitment and passion by families who have been affected, and to whom we should pay tribute, because of the immense contribution that they make. Sometimes I feel that more could be done by Government to help to join up the work of those many different organisations to try to provide a greater central force to take forward that work and to help to co-ordinate the valuable work that they do.

[Alison Seabeck (Plymouth, Moor View) (Lab)]

The hon. Gentleman is making an important and quite sensitive point, because a number of these trusts are set up on the back of and because of people’s individual experiences and losses. It is difficult sometimes to get them to talk to each other, because they are so very personal to people.

[Charles Hendry]

I think that is absolutely true and there is a role that the Department can perhaps play in bringing people together, when they have similar goals, and if they can combine their force and strength, the overall gain may be bigger than the sum of the parts. Perhaps that is something to which the Minister could respond when he replies to the debate.

My second point relates to the university work that is being done in this area. When I left the Government in September last year, one thing that gave me the most joy was to be invited by the university of Edinburgh to become a visiting professor. I have been incredibly impressed by the work that is being done in this area—not in the part in which I am involved, which is the business school—particularly by the medical faculty. Work is being done to look comprehensively at the patient experience and at how to bring together all the issues that affect patients who often are being affected by rare diseases and how they can combine the necessary research into that as well.

The issue is not only about the role of world-class research, which I think Edinburgh has in abundance, but about how that is tied in with the role of benefactors, because the work of the university of Edinburgh has been made possible by a small number of extraordinarily important contributions. The Euan MacDonald centre for motor neurone disease research is funded by an immense donation by the family of Euan MacDonald, but that in turn led to an even bigger donation by J. K. Rowling for the Anne Rowling regenerative neurology clinic. It is through the work of the university—of examining how it can bring together its extraordinary genius in looking at the challenges that have been presented by these rare diseases—and tying that in to extraordinarily generous benefactors that offers us a really great way to address some of the issues. The work being done in Edinburgh is of course being done in many other universities in this country as well, but if we can help, through the Government, to try and co-ordinate that better, we will see real progress.

I remember hearing former President Jimmy Carter talking about what it meant to him, in his lifetime, to have played a leading role in the eradication of a single disease—river blindness. What an extraordinary, unbelievable ambition, and it is a magnificent thing to have been achieved, just as Bill Gates is achieving similar things in different sectors. The more that we can co-ordinate that work, expertise and genius in our universities with the good will of so many people outside it, the more, as a succession of Governments, we will be able to say that what we have done has led to the eradication of some of these diseases.

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[Alison Seabeck (Plymouth, Moor View) (Lab)]

It is a pleasure to follow the hon. Member for Wealden (Charles Hendry), who gave a thoughtful and extremely constructive speech, which I hope that the Minister will respond to, on an area that so far, nobody else has covered. I thank the hon. Gentleman. I also congratulate the hon. Member for Strangford (Jim Shannon) on securing this important debate, and I pick up on the point made by the hon. Member for Wealden that we have had a dearth of interest in rare diseases on the Floor of the House. However, we have some extremely active all-party groups, which I shall come back to later.

Rare diseases are perhaps not quite so rare. There are an extraordinary number of them, and many more are being discovered, with five new diseases being described in medical journals each and every week. The number of people affected can vary from a handful to a few thousand, which often means there are issues about how they are supported and how care is given. Of course, these diseases are often hard to diagnose and complicated to treat, but one in 17 people will potentially be affected by a rare disease of one sort or another.

Despite the vast number of rare diseases, I would like to focus primarily on one that will be familiar to a number of Members present: muscular dystrophy. It and related neuromuscular conditions affect about 70,000 people in the UK. Each affects different muscles, and their severity and the way in which they affect individuals vary greatly. Most are progressive, causing muscles gradually to weaken over time. These conditions can be inherited or can occur out of the blue, even when there is no family history.

The Muscular Dystrophy Campaign has welcomed the strategy. I was pleased the campaign was highlighted in one of the strategy’s examples of good practice, which noted that people with a muscle-wasting condition and their families can

“be seen in one place at one time by the local paediatrician, the regional neurologist, therapists from both local and regional services and a representative of the Muscular Dystrophy Campaign.”

That sounds wonderful, and Plymouth and the south-west are, in many ways, exemplars when it comes to treating and supporting people with muscular dystrophy. Unfortunately, the same is not true everywhere; there really is a postcode lottery, and we have heard examples today. It is difficult, certainly in a region as large as the south-west, for people with serious mobility issues to travel excessively long distances, so we have not quite achieved that level of provision.

Let me cite the case of a constituent, Sharon Kitcher. Her son James is 22, and I have known them for many years. He suffers from Duchenne muscular dystrophy. The family have been real champions for James and his care over many years, and they have certainly beaten a path to my door on many occasions. They are very tenacious, and rightly so. However, it has been difficult for them to ensure he gets the treatment he needs, even though they are strong and vocal in supporting him. It has been difficult to get the wheelchairs he has needed as he has grown, because such things take time. It has also been difficult to get the support the family as a whole needs so that the household can operate properly.

Since transitioning to adult services, James has really struggled to access specialist neuromuscular physiotherapy, which is an extremely important part of managing Duchenne. Currently, there is no cure for the disease. James’s mum told me:

“Access to specialist care is extremely important for my son. There has been a huge difference in the level of support he receives since he has entered adult services and accessing specialist neuromuscular physiotherapy has been a particular challenge”.

That, of course, is happening in a region that is leading the way, so I really have concerns about other parts of the UK.

Will the Minister therefore explain what steps his Department is taking to harmonise the levels of support patients with rare diseases receive when transferring from child to adult services? How does the recently published strategy seek to address the issues my constituent is experiencing? Does the Minister accept that the confusion in the commissioning process in the current health market is not helping families and practitioners to find the right course for some patients? The pathway has not been seamless, and I agree with the hon. Member for Strangford that our aim must be a seamless pathway for young people as they move into adulthood. This is a difficult period at the best of times. A member of my family was in a similar position; she made the transition as a young woman with Down’s syndrome, and the problems were exactly the same, so we do not seem to have made much progress.

My hon. Friend the Member for Poplar and Limehouse (Jim Fitzpatrick) spoke passionately about his and OUCH’s experience, and I hope the Minister heard that. He also spoke about the importance of all-party groups, and most of us here belong to one or other of those linked to rare diseases. Our meetings are extremely well attended, and sufferers and their families—this is particularly true of the all-party group on muscular dystrophy—regularly come to Westminster. We hold regular inquiries into different areas of concern for sufferers, and the Minister has responded to issues that have been raised, as have other Ministers in the past. Those responses have been well thought through and considered.

I recently attended a briefing on alpha-1 antitrypsin deficiency. Alpha-1 is not rare, with one in 3,000 to 5,000 people affected, so I was concerned to hear about the frequency of misdiagnosis. Indeed, the introduction to the strategy states:

“Around 4 in every 10 patients say they found it difficult to get a correct diagnosis”—

for rare diseases. When the Minister winds up, perhaps he could outline how the strategy seeks to address that in the case of muscular dystrophy and across the board.

The Muscular Dystrophy Campaign is launching a landmark new project in July, and it is funded by the Department of Health, which is good. The aim is to secure neuromuscular service developments in the newly reformed NHS, and we shall see how that works, because, as I say, the jury is out on how the reforms have been put together. However, the principle behind what the campaign is trying to do is the right one. The project is bringing together specialist commissioners, clinical commissioning groups, clinicians and people living with muscle-wasting conditions so that they can work together to improve the patient experience. However, the project is about muscular dystrophy, and I come back to the point I made to the hon. Member for Wealden: myriad organisations, individuals and trusts out there are all trying to achieve the same ends, and we really have to find a mechanism to bring them together. I hope the work the Muscular Dystrophy Campaign is doing will help to show the Government how they can do that.

In closing, I want to touch on the question raised about the trials process for drugs and treatments. I met a mesothelioma sufferer—a very brave young woman who had picked the disease up through contact with her father’s clothes. She had to travel to Germany for treatment. She lived many years longer than she was told she would, and that was, without any doubt, because of the treatment. She had a good quality of life, but we had to battle hard to get any support for the cost of the treatment. NICE was particularly difficult, even though this tried-and-tested technique was being used in Germany. The problem was that there were not enough people in the pool here to justify NICE giving the treatment the all-clear so that this young woman could use it, and we really need to look at that. When medicines and treatments are available in America or Europe, where there are high standards of testing, there should be more flexibility than currently exists.

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[Mark Durkan]

I think they should be put in a “not to be neglected” queue, rather than a “too difficult for us to sort out now” queue. The problem at the moment is that if an applicant’s condition is deemed very rare or complex, instead of their case being given added attention and urgency, it is allowed to silt up. That can happen with medical treatment and the opportunity for further diagnosis, which often requires travel outside the jurisdiction, and with the social security issues that I have mentioned, and on which I want to finish.

The Welfare Reform Act 2012 contained provisions that seemed to assume that many people with lifelong conditions would suddenly improve and not want to let on about being cured. It is a bit much when families who have their hands full supporting someone with a rare condition—particularly a child or young person—as well as supporting other family members, must constantly jump through hoops for a system that is supposed to support them and understand their needs.

[Alison Seabeck]

Will the hon. Gentleman accept that there are also issues about the way in which general health funding is distributed? In Plymouth, we have a very high prevalence of rare diseases, perhaps linked to the heavy industry that we have had, yet we get half the funding per person that is seen in Windsor and Maidenhead, for example. Will he accept that that also needs to be revisited?

[Mark Durkan]

I absolutely accept that point. It also came through in the earlier inquiry work on some of the concerns voiced by the all-party muscular dystrophy group. That goes back to the point that I made about funding.

The real test of whether a strategy is coherent and effective is what happens when it comes to funding. We can have many good statements of intent. There are 51 commitments, which are very strong and sound. It all sounds great, but does it translate into money being available for support and treatment or, as happens with approving new drugs, does the finance test get in the way of support and treatment reaching people? The cost-effectiveness criteria used either by the National Institute for Health and Care Excellence or by the Joint Committee on Vaccination and Immunisation raise questions. Particularly in relation to rare diseases, if the test is almost that a possible new treatment has to throw two sixes to start, in circumstances in which people do not even have any dice, it is a serious problem. Although the rare disease strategy is a good start, it is only that—a good start. It will need more work and more resources, and will need to be informed by further research.

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[Norman Lamb]

I was not aware of that, but I am interested to hear it, and the hon. Lady makes her case powerfully. Before I respond fully to the points made by the hon. Member for Strangford, I want to deal with some of the other issues that have arisen during the debate. Several hon. Members, including the shadow Minister, asked whether the new architecture of the NHS had damaged the co-ordination of work on rare diseases. In many respects, I can reassure hon. Members. There is a danger that if one was coming into this place from afar and hearing the debate, one might think that we were moving from an idealised, perfect scenario into something more troubling. We all know, however, that that is absolutely not the case. The treatment of rare diseases historically has been far from optimal, and the greater involvement of clinicians in the commissioning of care can have real benefits for patients. Until 31 March 2013, far from being a simple matter, specialised commissioning was fragmented across a range of NHS organisations including regional specialised commissioning groups, a national specialised commissioning team and local primary care trusts, which remained ultimately responsible for the specialised health care of their populations. From 1 April 2013, under the terms of the Health and Social Care Act 2012, NHS England became the sole direct commissioner of specialised services, which provides a greater simplicity in the commissioning of services.

[Alison Seabeck]

Will the Minister give way?

[Norman Lamb]

I will continue, because I am conscious of the time. The hon. Member for Poplar and Limehouse (Jim Fitzpatrick) made a valuable contribution. I learned something about trigeminal neuralgia, from which I think I understood him to say that he suffers. He asked whether it would be possible to meet once the report that he referred to is complete, and I would be happy to agree to that, diary permitting. I am sure it will be possible to do so at some point. He made some important points about misdiagnosis, and about the importance of support groups and networks. The internet now provides incredible assistance to people with rare diseases, because they can link up not only with those in their neighbourhood but with people and clinicians globally who can guide them in the treatment of their condition. He also spoke about unnecessary referrals to hospitals and the mental health implications of some rare diseases, and I completely agree with him.

My hon. Friend the Member for Wealden (Charles Hendry) made powerful points about the extraordinary work of so many families, and he mentioned in particular the work of Charlie’s Challenge and Tildy’s Trust. Such families do the most remarkable work, and they are often hellbent on producing a really valuable legacy from their experiences. His point about the Department helping to co-ordinate the work of so many such groups was well made. He also referred to the fantastic work that is going on in Edinburgh university, and I applaud all those involved.

The hon. Member for Plymouth, Moor View (Alison Seabeck) made the point that there is extraordinary variability of service around the country. That is something that the strategy can absolutely address, and I believe we will get powerful results. She referred to her constituent, young James, who suffers from Duchenne muscular dystrophy, and she talked about the importance of transition to adulthood. I focus a lot on mental health, and that transition is often a complete disaster. We need to do far more to improve it.

The hon. Member for Foyle (Mark Durkan) made some important points about collaboration. He referred to the British-Irish Council, and although I have no idea whether his suggestion is possible, I am happy to look into it. He talked about the funding challenge. We are in very tough financial circumstances and often—the contributions of many hon. Members this afternoon have emphasised this—the question is how the money is used, because it is frequently not used effectively. A misdiagnosis usually results in an inappropriate referral to hospital, and a patient goes down completely the wrong track. An enormous amount of money is wasted, and the patient receives very poor care. It is essential to improve the way in which the system works to extract better value. We recently announced integration pioneers in 14 areas of the country. None has had extra money, but they demonstrate that, by co-ordinating their efforts more effectively, they are producing much better results for patients. The shadow Minister was absolutely right that the one thing we should all focus on is the patient—the individual citizen—and their experience of the system.

It is fitting that this debate should happen so soon after the launch of the UK strategy for rare diseases. This strategy is an overarching UK-wide framework, setting out a shared UK strategic vision for improving the lives of all those with rare diseases. It is owned by each country in the UK and commits them to more than 50 actions—I think it was identified as 51—that will deliver better outcomes for those with a rare disease. It means that for the first time we are in a position to make a tangible, co-ordinated difference to those suffering with a rare disease. That is something we can all be really positive about.

As we have heard, one in 17 people will experience a rare disease at some point in their life, with the majority of diagnoses made in childhood. That amounts to some 3 million people in the UK. A disease itself may be rare, but having a rare disease is, alas, not unusual, because there are so many of them—a point made by the hon. Member for Plymouth, Moor View. They are a major cause of illness and make considerable demands on the resources of the NHS and other care services. The strategy for rare diseases is based around the more effective and efficient use of services—a point I made earlier—with better links to research and innovation. As the NHS constitution states, no-one should be left behind because of their condition, be it rare, very rare or yet to be diagnosed. To achieve this, England, Scotland, Wales and Northern Ireland have agreed to deliver the 51 commitments that focus on five areas.

The first is empowering patients—perhaps the most significant of all—making sure that they are listened to, informed and consulted every step of the way. No one knows the condition better than the person suffering from it; too often, they are ignored in a rather paternalistic system. We will continue to work closely with patient groups and others to improve services for rare disease sufferers. We will improve access to knowledge and support networks at UK, European and international level, and we will help patients to participate in rare disease registries. We will look at how those might be developed in England to better capture the patient experience.

Secondly, we want to develop more effective methods for identifying and preventing rare diseases. Carrier testing, preconception and antenatal care, along with newborn screening, all play a part. Rare diseases are often genetic in nature, and so can affect more than one member of the family. This makes it important that testing of other family members, where appropriate, becomes more routine.

The third area is better diagnosis, which has been raised during the debate, and earlier intervention. Too many people still wait far too long to get an informed, correct diagnosis. There are several things we need to address. We need to ensure there is better awareness of rare diseases. That is important across all aspects of health care. Not everyone can be an expert, but ensuring that the possibility of a rare disease is considered when a diagnosis is proving difficult can help. We need to ensure that all doctors are alert to the possibility of a rare disease when they see patients, even if they are not able to diagnose specific diseases. This means including better training on rare diseases in university courses and in professional development at work.

The training and education of clinicians is critically important. Health professionals do not need detailed knowledge of every rare condition, but all medical specialties and multi-professional care teams should have a general awareness of rare diseases so that they can make rapid referrals to specialists in the appropriate field. Making genetic testing more mainstream, harnessing the potential of genomic technologies and focusing on what our DNA can tell us will also help us to reduce the time to diagnosis.

Perhaps the most important commitment is to develop clearly defined care pathways between primary and secondary care and regional and specialist centres. Health care professionals, especially GPs who are likely to be the first point of contact, need to know how to access the pathways for those at risk of rare disease.

Fourthly, we want to see better co-ordination of care. Building on the fantastic NHS genetic services that already exist—this country is well recognised internationally for that—we want to see the development of centres of excellence in rare diseases, providing one-stop-shop services to patients through co-ordinated consultation and treatment schedules. The centres should also be knowledge and skills hubs—concentrating the skills together—that support local delivery of services and facilitate clinical trials and other research projects.

The last area of the strategy, but by no means the least, is recognising the absolute importance of research, which several hon. Members have touched on today. The Government are committed to supporting research into rare diseases. Such research holds the key to improved personalised and targeted approaches to health care. These have the potential to improve the effectiveness and safety of treatments, the speed of diagnosis and patients’ quality of life.

In the UK, we are lucky to have some of the best academic and clinical research in the world. It was no coincidence that Earl Howe launched the strategy at Great Ormond Street hospital last month. The hospital itself hosts a National Institute for Health Research biomedical research centre that continues to lead on experimental medicine, including the discovery of diagnostics and new treatments for childhood diseases. The shadow Minister—if I can briefly divert him from his iPad; I am sure he is catching up on important stuff—made the point about how we ensure that we make the right decisions on research priorities. Ultimately, it comes down to the quality of the proposition that is put forward, but I will write to him and other hon. Members on the issues raised that I have not touched on.

We also want to see more collaboration between patients, health care professionals and researchers, and for that to become normal custom and practice. At that same event, Earl Howe also announced that the National Institute for Health Research is establishing a rare diseases translational research collaboration to translate research into actual practice. As part of the NIHR rare diseases translational research collaboration, researchers will share their considerable resources and world-leading expertise to increase research collaboration and improve treatment and care.

Some £20 million over four years is being invested by the NIHR to fund the NHS research infrastructure focused on deep phenotyping—the gathering of information on the physical characteristics of people with rare diseases. The TRC will build on our British heritage as a world leader in genomics. It will provide national co-ordination to bring those with significant relevant NIHR-funded infrastructure in the NHS together. That will speed up the development of new diagnostics and treatments. That is also why rare diseases is one of the three priority areas for the Government’s initiative to sequence 100,000 whole genomes over the next three to five years. We want to see innovative research and cutting-edge technology translated into real patient benefit.

The strategy for rare diseases will increase access and lead to a more patient-centred, co-ordinated approach to care and treatment, clearly focused on the needs of patients and families. Each country in the UK will develop its own implementation plans over the next few months. We will ask a reconstituted UK rare diseases stakeholder forum to maintain an overview of the implementation of the strategy. The original forum was established earlier this year and comprises policy officials from the four UK countries, service users, industry, regulators and service providers. The forum played an invaluable role in the development of the UK strategy and will now have an ongoing role in monitoring the strategy’s implementation and reporting back on progress.

In England, our key delivery partner is NHS England. The recommendations of the UK strategy for rare diseases that relate to NHS England’s responsibilities for specialised commissioning will form part of the scope of NHS England’s five-year strategy for specialised services—an £11.8 billion plan to co-ordinate specialist services.

I want to thank all hon. Members for their contributions to a very useful debate. On all the other points that I have not been able to deal with, I will write to hon. Members.