Rare Diseases

Tuesday 17th December 2013 Westminster Hall

[Hugh Bayley in the Chair]

14:30

[Jim Shannon (Strangford) (DUP)]

It is a pleasure to be called to speak in this debate, Mr Bayley, which I have sought for some time. It all goes back to a meeting that I had with a number of people from Northern Ireland back in June. They outlined their concerns about the funding and resources for rare diseases, and about strategy.

In this debate, we have an opportunity to look back. Governments in Westminster and the regions, and particularly in Northern Ireland, which I represent, are responding to a UK strategy. The timing of this debate is more appropriate than it would have been had we had it in September, or July last year, because we now have the chance to discuss where we go with the strategy, and how we tie it in throughout the United Kingdom. I appreciate the attendance of Members to discuss rare diseases. It is a pleasure to have so many in the Chamber—to make a contribution, I hope.

Some of the stories that I have heard about rare diseases would break your heart, Mr Bayley. That is where I am coming from, because my cases are those of constituents who came to me with their problems and asked me to portray or reflect on them in the House of Commons and, we hope, find a way forward. It is abundantly clear to me and to everyone in the Chamber that we need to be proactive, making changes that will give the people affected in our nation a better quality of life.

Let me set the scene with a few facts. One in 17 people in the United Kingdom will be affected by a rare disease at some point in their life, which equates to 3.5 million people; 75% of rare diseases affect children; and 30% of patients with rare diseases will die before their fifth birthday. The Teenage Cancer Trust has given me some facts. There are more than 6,000 recognised rare conditions, 80% of which have a genetic cause.

In June 2009, the UK adopted the Council of the European Union’s “Recommendation on an action in the field of rare diseases”. It recommends that member states

“Establish and implement plans or strategies for rare diseases”,

which should be adopted

“as soon as possible, preferably by the end of 2013 at the latest”.

We will not make that deadline, but I hope that we will make the deadline of February 2014, when all the regions will come together under the captaincy of the NHS and the Minister in attendance, who will push things forward.

In November 2013, a UK strategy for rare diseases was issued by Ministers from the four UK Health Departments, including our Northern Ireland Minister, Edwin Poots. The recommendation contains 51 commitments, which all four countries of the UK are committed to delivering by 2020. The commitments are UK-wide and will be implemented in country-specific plans for England, Scotland, Wales and Northern Ireland. Time prevents me from going into all 51 commitments, but I have been contacted by many groups, and I wish to raise at least some of the issues that they highlighted for me.

[Graham Stringer (Blackley and Broughton) (Lab)]

Before the hon. Gentleman gets into a long list, does he agree that the changes in the structure of the NHS have made achieving a strategy more difficult, because it is often not clear where the responsibility for dealing with rare diseases lies between the commissioning groups and NHS England?

[Jim Shannon]

The hon. Gentleman has outlined an issue that is of concern to us, and I hope that the Minister will respond to it in this debate. With great respect to the Minister, he always tries hard to respond to the issues that we ask him about; I do not mean to put up too high a pedestal, but we have high expectations of his response.

The Teenage Cancer Trust contacted me, and its correspondence included some of the figures I gave earlier, which indicate how important the subject is. The trust told me that seven young people per day between the ages of 13 and 24 are diagnosed with cancer. The trust has 27 cancer units operating throughout the United Kingdom and Ireland. There are around 1,200 new cases of cancer among teenagers and young adults in the UK every year, which is a significant number for a rare disease, as defined by the specialised services. Cancer, however, remains the most common cause of non-accidental death in young people, and the five-year survival rates are lower among teenagers for some cancer types than among children. I repeat that, according to the trust, 30% of rare-disease patients will die before their fifth birthday. It is a cruel fact that some children will not enjoy life beyond the age of five.

The trust has proposed recommendations. It believes that it is critical that the service model continues to be secure in the NHS, as part of a standard cancer care; in other words, diagnosis and care must be delivered at an early stage. It welcomed the setting up of the teenage and young adult clinical reference group in NHS England, and called on NHS England to continue to work with the group to focus development on the services.

I refer to NHS England, even though I am an MP for Northern Ireland and health is a devolved matter, because there has to be a driver on rare diseases, and NHS England is the driver to take all the regions forward together. When I refer to NHS England, I am referring to something to which we can all contribute, including those in our part of Northern Ireland.

The Teenage Cancer Trust also referred to the fact that there are different cancer biologies, treatment protocols and responses to treatment. All the issues need to be brought together, which underlines what the hon. Member for Blackley and Broughton (Graham Stringer) said. There has to be better co-ordination. The trust also recommended more trials relating to teenagers and young adults with cancer, and challenging the arbitrary age criteria that are often set for trials. It also recommended ensuring a mechanism for action on new drugs, so that they can be tested by different groups. In other words, it wants early diagnosis, a focus on the issue and, by releasing financial and regulatory burdens safely, to encourage more research development for teenagers and young adults.

Another trust recommendation was for a system that alerted GPs when they had seen a patient three times with unresolved cancer symptoms. That would help them to identify and manage those cases. That is to say, with cancer, when someone has had three strikes, it is time for the case to be looked at intensely, so that we can ascertain exactly what is wrong. The trust has put forward those ideas, which are important to what we are trying to do.

There are more than 60 different types of muscular dystrophy and related neuromuscular conditions. Approximately 1,000 children and adults for every 1 million of the UK population are affected by muscle-wasting neuromuscular diseases. It is therefore estimated that some 70,000 people are affected by a neuromuscular condition in the UK. A constituent I met in June, Dr Amy Jayne McKnight, chair of the Muscular Dystrophy Campaign in Northern Ireland, is a director of the Northern Ireland Rare Disease Partnership; she sent me the following quotation through the Muscular Dystrophy Campaign, with which I have contact:

“There is an urgent need to establish multidisciplinary support for people with neuromuscular conditions in Northern Ireland. The lack of a register of affected individuals makes clinical care particularly challenging due to a lack of planned services. My father, who has spinal muscular atrophy, experienced very sporadic clinical support and was only offered respiratory care after he ended up in intensive care—putting his health at risk. Individuals in Northern Ireland deserve the same care and support as those living in England; international standards of care guidelines exist for several neuromuscular disorders including NICE accredited guidelines for Duchenne and the forthcoming NICE guidelines for uncommon neuromuscular disorders. We need to build on existing expertise in Belfast, alongside support from Centres of Excellence in the rest of the UK, to enable an effective network of specialist services to be developed in Northern Ireland.”

That is a lengthy comment, but it puts in perspective what the partnership is seeking, and what the House should be doing in the strategy that we develop.

I have raised this issue with the Minister who has responsibility for health in Northern Ireland, Edwin Poots, but if all four UK countries are to fulfil their part of the deal, the United Kingdom Government must soon provide additional, ring-fenced funding to each region. Only then will people receive the care that they need. It is all very well to have a strategy, but we must have resources and finance in place to make it happen. The four regions need to work together to make it happen; that is what we should be trying to do.

[Graham Stringer]

The hon. Gentleman has raised some profound points about networks and information. I am not so familiar with the situation in Northern Ireland, but clinical reference groups are vital. He has talked about Duchenne muscular dystrophy. In England, patients suffering from neuromuscular diseases are often directed to a clinical reference group for generic neurological diseases, which is obviously inappropriate. Is that his experience in Northern Ireland, and does he believe that we should do something about the situation in England?

[Jim Shannon]

I cannot speak about other places, but I do not believe that that has been the case in Northern Ireland—I am not aware of it. In my area, there are young people with Duchenne muscular dystrophy, and I met some young people with Duchenne at an event held every year in the Methodist centre across the way. I have been to the past couple of events, and there has been only one person from Northern Ireland there. With my background information, I would say that what the hon. Gentleman describes does not happen in Northern Ireland, but he says that it does in England, and that needs to be addressed. I hope that the Minister will take that point on board when responding.

The United Kingdom Primary Immunodeficiency Network, or UKPIN, is a professional organisation for all doctors, nurses and scientists working in this field, and it covers six rare diseases. UKPIN—I need to be careful how I say that, because UKIP has no role in this matter whatever—has stated that its aims are the registration and accreditation of specialist immunology centres for primary immunodeficiency, or PID; the development of a national patient registry, to which the Government have given a commitment in the rare diseases strategy; and the development and dissemination of guidelines and standards for best clinical practice. The UK PID registry has been supported by the Healthcare Quality Improvement Partnership, and has engaged the participation of 95% of UK centres since its establishment in 2008. To date, nearly 3,000 patients have been registered, making it the second largest patient registry in Europe, after the long-established French registry.

The figures for Northern Ireland suggest that PID is as common as cystic fibrosis. A first report on the matter is at the presses, and we will soon have the opportunity to read it. Perhaps the most pressing point that has been raised is that there is a need for meaningful national and international collaboration on both research and development of clinical practice to ensure maximum benefit for patients. Let us not disregard international collaboration: if something good is being done in France or Germany, it would be good to exchange expertise, so that we can all improve and move forward. Groups such as UKPIN can take the lead in some of these matters. The UK has already led in the development of novel treatments—for example, with gene therapy—and in implementing novel technologies such as next-generation sequencing. It is crucial that there is ongoing investment to maintain that research.

Rare Disease UK has welcomed the promise of greater co-ordination of care for people with rare diseases. As we hear all too often, patients and families have nobody to co-ordinate the multiple elements of care and treatment that their condition necessitates. How often have we heard that, when it comes to health care? It is not just about care for rare diseases. Members here today all regularly contribute to our discussions on health issues in the House, and all too often we hear of people who do not know where to go or who to speak to, and are not quite sure who they need to be in touch with to help them. That is a key issue; if we could address that, it would be helpful.

[Mr Nigel Dodds (Belfast North) (DUP)]

I am grateful to my hon. Friend for raising this important issue. He touched on support and services for families, particularly at the early stages of diagnosis of rare diseases. That is especially important when the case involves a child, as many do; we heard that earlier. Does he agree that that is one of the most critical matters that needs to be addressed in any UK strategy, and that it is particularly important in Northern Ireland? He and I have shared some experiences of the deficiencies in that regard.

[Jim Shannon]

I agree entirely with my right hon. Friend. We have experience of those deficiencies in the health service—we are not immune from them in Northern Ireland. In this House, I always try to extol the health service in Northern Ireland and the good things that we are doing, but there are times when we fall down, and times when we have to improve. My right hon. Friend is absolutely right that there are things that we would like to see done better, and we endeavour to make sure that happens. We have a devolved Administration and a Health Minister in Northern Ireland, so we have an opportunity to make that happen. We have seen lots of changes for the better in the health service in Northern Ireland.

Patients’ uncertainty about who to contact can mean that they do not receive the information and support that they need or that they have to tell their story over and over. I have often told the story of the gentleman I mentioned, and other people’s stories as well, but I still have not got the answers that are needed. My goodness, but it is frustrating for the people concerned, and it is also frustrating for me, as an elected representative. People can feel lost in the health care system.

It has been outlined to me that any strategy must include the development of a generic care pathway to facilitate the delivery of best practice to all rare disease patients, not just those who have a specific service specification; an appropriate care plan for all patients with a rare disease; clearly stated principles about the standards of care that patients with a rare disease can expect, including patients with no diagnosis; and the development of seamless pathways for transition, from childhood to adolescence and on to adulthood and older age. How does the Minister feel we can put such a strategy into place?

We must ensure that there is evidence-based diagnosis and treatment of rare diseases, as without accurate diagnosis, appropriate screening programmes and targeting of diagnostic tests, patients and families cannot access effective treatment or therapy, or manage their condition appropriately. All those things are important to the person who is living with such a disease every day of their life. A delay in diagnosis, or a misdiagnosis, could also involve multiple avoidable appointments with doctors and consultants, incorrect treatments and diagnostic tests, and significant distress. I hate to talk about money but it is an important factor in how the health service works, so we have to consider it. If we can do things more efficiently and effectively, let us do so, and deliver a better service, without some of the current bureaucracy and paperwork.

The UK rare diseases strategy represents the first time the four nations of the UK have come together to recognise and respond to the needs of rare disease patients systematically and structurally. It follows the founding principle of the NHS that treatment should be a response to need. The NHS is an organisation that we love and have great pride in—a pride that was mentioned in the House yesterday—and we want it to deliver across the whole spectrum for everyone. The rare disease strategy essentially gathers a set of 51 commitments that all four nations in the UK could agree to implement. When the Minister responds will he tell us how the 51 commitments will be achieved—will there be follow-up regulation and monitoring to make sure that they all take place?

Regrettably, few of the commitments require the four nations to work together on rare diseases. I find that a wee bit hard to understand. We should be exchanging expertise. If in Northern Ireland we are more expert on one aspect of treating rare diseases, let us do that part; if someone in Wales, Scotland or England is more expert on another aspect, let them do that part. Let us exchange our knowledge with each other to take the strategy forward. For high-quality care to be available to all patients with rare diseases across the UK, such collaboration needs to improve and increase.

[Mark Durkan (Foyle) (SDLP)]

I commend the hon. Gentleman on leading the debate. On the issue of co-operation and co-ordination across the UK, does he agree that the issue of rare diseases could be taken up for focus work by the British-Irish Council? As that body represents all eight Administrations within these islands, not just the devolved regions of the UK and Whitehall, its involvement could help to foster a sense that across these islands there is an open faculty of all those who are trying to specialise in improving the treatment and care of people with rare diseases.

[Jim Shannon]

I agree with the hon. Gentleman. The Teenage Cancer Trust already has 27 units working across the whole of the United Kingdom and Ireland. Bodies are already working across the borders, so to speak. As I said earlier, if someone in the Republic of Ireland or someone somewhere else in Europe has knowledge and expertise, let us galvanise our approach and work together.

It is in the area of rare diseases where the value of resource and service sharing can most easily be seen. The population size and distribution in each of our four nations vary tremendously, as do the health care needs, and there are significant efficiencies to be gained from sharing the burden between the four health services.

The Brittle Bone Society has highlighted that there needs to be a clear commitment to develop a fully functioning and properly staffed transitional service offering all the multidisciplinary services needed for all-round care at this life stage.

There should also be consideration for other departments, such as mature or older well women and well men clinics. Charitable patient organisations may be resource-poor, and it takes time, care, consideration, planning logistical preparation, communication, and an effort to inform and advise members to recruit them to take part in vital surveys, research trials and other invaluable projects.

Research into and development of new treatments and medicines for rare and very rare diseases, known as orphan and ultra-orphan medicines, is an important feature in medical research and the life sciences sector. A large number of products have been developed or are in development to treat rare and very rare diseases. Such research can provide valuable insight into the treatment of conditions that affect large numbers of people. Research and development must be enhanced to provide hope and an answer for those who are suffering from such diseases. The fact that the number of people who suffer from a disease is small must not detract from the fact that a child or adult in the UK is suffering, and we must do all that we can to alleviate that.

The Specialised Healthcare Alliance has sent me some helpful information. It refers to highly specialised services for the rarest conditions, some of which we may never have heard of—apart, perhaps, from a mention on TV, which will probably have been the first we have heard of it—but unfortunately they are occurring more often. There are some 500 patients in England and some 600 patients across the whole UK. Such illnesses and diseases are complex and need the highest level of expertise and knowledge to address. The alliance states:

“Many patients in Northern Ireland, Wales and Scotland depend upon the quality of English highly specialised services for their patients, given the very small number of centres that can sensibly provide these services.”

That goes back to a point that I made in the beginning: we are dependent on England being the driver for the issue, and on NHS England as the organisation that we follow in Northern Ireland, Scotland and Wales. The alliance also refers to “properly funded administrative support”. These are issues that it would like to see taken forward. It also says that the problem of capacity in the system has to be addressed to ensure that resources are there and that opportunities for specialised services are and can be delivered.

An example of the need to work together in the regions can be found in the fact that there is a regional variation in post-bone marrow transplant care. Patients who have received a transplant will face a range of severe and debilitating late effects, as well as life-threatening infection, due to the nature of their therapy. Those complex needs have to be managed by a transplant clinician in a late effects clinic, in which the co-morbidities can be considered with a full range of treatments by a specialist team. Without security of funding, a transplant centre cannot provide that service, so variation will creep in where follow-up care is commissioned by clinical commissioning groups.

Only small numbers of people receive transplants—1,440 in 2011. A nephew of mine has received a transplant, which transformed his life greatly. We are thankful to the donor for making that happen. It was not always plain sailing; sometimes there were backward steps. Has the organ been accepted by the body? Was there medication to ensure that that happened? At the end of the day, he is a bright young man today, and doing very well due to his kidney transplant. Many years ago, it would not have seemed possible, but we now have the opportunity to see a young man who has done extremely well through a transplant. There is a clear argument for NHS England to foot the bill to ensure the security of the service. Furthermore, it should ensure that the right type of care is available by drawing up national guidelines on what constitutes a late effects clinic to eliminate variation.

Time has beaten me, and I want to give others the opportunity to speak. I am not going to go into any further detail on the issue. Although the key commitments are welcome, there are fears of how they will work in reality. The Department must work with other Departments regionally to ensure that not only are those commitments realised, but that there is no longer a regional disparity in service provision. I commented on regional disparity yesterday in relation to the debate in the Chamber, and there is also a clear regional disparity on this topic. How can we achieve this funding and heart? The rare disease groups have shown that there is heart in abundance. Those organisations have spoken to hon. Members present and other hon. Members, who are unable to attend. However, we also need Government commitment to funding. Perhaps today we will get the assurance that that is forthcoming.

14:54

[Jim Fitzpatrick (Poplar and Limehouse) (Lab)]

It is a pleasure to serve under your chairmanship, Mr Bayley. May I begin by congratulating the hon. Member for Strangford (Jim Shannon) on securing this debate? He mentioned that one in 17 of the population can expect to be affected by a rare disease. I want to speak briefly on two issues: trigeminal neuralgia and headache disorders.

Trigeminal neuralgia is a relatively rare condition, thought to affect less than 0.1% of the population, and that has included me. I secured an Adjournment debate on TN in 2010, seeking, among other things, to raise awareness of the condition.

It is important that the rarity of that or any condition does not exclude it from research, funding and the search for treatments or even a cure, as the hon. Gentleman referred to in his excellent opening remarks. One vital corollary of such research is in getting to grips with misdiagnosis, which is a particular problem when dealing with rare diseases. We need to break the chain of rarity leading to lack of research and knowledge leading to misdiagnosis. Such a chain can mean ongoing misery for the sufferer, when it might otherwise be possible to make breakthroughs that could bring hope and relief to the afflicted.

Of particular importance in the case of rare diseases is the existence of support groups and networks. They are important for all sufferers, as one often finds that the very rarity of a condition serves only to exacerbate the sense of isolation felt by the sufferer. If people do not know what they are talking about, and do not know anyone among their family or friends who suffers from a condition as rare as, for example, TN, it is crucial that one can link up with fellow sufferers, not only to overcome the sense of isolation, but, in practical terms, to share experiences, advice and the latest developments in that field of medicine, surgery and so on.

The Trigeminal Neuralgia Association UK brings together consultants, sufferers, doctors and researchers—indeed anyone with a connection to the disease. It also raises awareness among the public and medical professionals. I know that similar groups exist for other diseases, and all those groups are of immense importance and value to all of us.

I am the chair of the all-party group on headache disorders. We have initiated an inquiry into headache services in England. We have had a number of written submissions and one oral evidence session already, with another to follow in January. Evidence submitted to the inquiry so far indicates that there is significant misdiagnosis and subsequent mismanagement of primary headache disorders throughout England. Sufferers of rare headache disorders, such as cluster headaches, are further disadvantaged by the lack of medical awareness and access to specialists in the UK. The inquiry is looking into the current provision of care for headache sufferers in England and what opportunities exist in the new NHS system to improve care.

The all-party group has heard that misdiagnosis and incorrect treatment for headache disorders place a huge burden on the NHS, for example, inappropriate referrals to secondary care, costly medical procedures, and a high number of unnecessary A and E admissions. That can continue for years and comes at huge personal, financial and economic cost. The patient group OUCH reports high suicide levels among cluster headache sufferers.

Without funding for research into primary headache disorders, little will be done to improve the lives of sufferers or reduce the burden on the NHS and the UK economy. Increased education of health professionals—currently medical students receive only an average of four hours’ training on headaches—and clear treatment pathways are also required to tackle rare headache disorders.

Will the Minister meet officers of the all-party group once a report is published, which will certainly be before the summer recess, so that we can discuss its findings with him and his officials? Obviously we would like to extend that invitation to the shadow Minister. If the Minister is prepared to do that, that would be a welcome response to this excellent debate.

14:59

[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.

[Graham Stringer]

The hon. Gentleman is making very serious points about the excellent research that happens in the university of Edinburgh and in many of our other medical schools up and down the country, but he has not referred to a problem, which is that an excellent drug, or one that is likely to be excellent, can be developed, but because of the nature of rare diseases—that very few people suffer from them—it is very difficult to get it through the trials process, because that is designed to see whether the drug works on large numbers of people, quite sensibly. Does he agree with me that NICE should have different rules for drugs related to rare diseases?

[Charles Hendry]

I agree with the hon. Gentleman. A constituent has written to me just this week about meningitis and a drug that has gone through the trials process. It has been approved, essentially, but is only being made available to people who can pay for it at the moment. It seems to me that when treatments could be made available, expediting the process of approval and then ensuring that they are generally available as soon as possible, to as many people as possible, should be an objective of its own. I absolutely agree with what he said in that respect.

[Jim Shannon]

As I said in my introduction, the Teenage Cancer Trust indicated that that was one of its recommendations and it would like to see that happening. Perhaps the Minister can respond to that recommendation from the Teenage Cancer Trust. When it comes to the trial, effectiveness and availability of the drugs, we have to look outside the box. That is what we are trying to do, and I think that the hon. Gentleman is also saying that.

[Charles Hendry]

That is exactly what I am saying. The other thing that we owe tremendous credit to the Teenager Cancer Trust for is highlighting the way in which teenagers are dealt with in hospitals. The issue is that sometimes they are put in children’s wards, which is clearly not suitable for somebody who is in their late teens, and at other times, they are put in wards with people who were in their 80s and 90s, who are dying or are ill with other conditions. Someone who is a teenager is at a particularly vulnerable time of transition in their life, and it is incredibly important that their needs are dealt with in a specialist way and that they are surrounded by as many people of their own age group as possible. I think that is an important part of the treatment and recovery process.

I encourage the Government to continue what they are doing to try and address the issues. The strategy that is being put in place is of great importance, but more could be done to achieve a bigger overall gain from so many different fragmented, but immensely worthwhile contributions.

15:08

[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.

15:18

[Mark Durkan (Foyle) (SDLP)]

I commend the hon. Member for Strangford (Jim Shannon) on introducing the debate, which is taking place just a few months after the all-party group on muscular dystrophy concluded its inquiry; I took part in some of the evidence sessions. The group expressed the concern, which has been voiced in the debate, that some of the changes that are afoot could imperil some of the good, concentrated work that has been done on rare diseases. There is a fear that the confused migration of various functions and tasks means that some of the specialist focus over the past few years has been lost.

The Government have argued that there will be new approaches, and they have said that the UK strategy would help to take care of some issues, creating a new focus on rare diseases. However, they also said that the £50 million specialised services commissioning innovation fund would be used to support work on rare diseases. Only a month after the all-party group reported with its concerns, that fund was essentially withdrawn because of other funding pressures. The statements and assurances that we get do not add up. The fears and apprehensions of many of the rare disease campaign groups and others, including Members and all-party groups, are reinforced by the apparent confusion.

The Government need to do more to give the rare disease strategy credibility and traction. In an intervention on the hon. Member for Strangford, I talked about what was needed, in addition to work at the UK level, to get better co-ordination between NHS England and the various devolved health services. Besides each responsible health service area doing its bit, there is a need for real collaboration that transcends those areas. Indeed, I see that happening beyond the UK; I see it spanning the whole of the British-Irish Council, which includes the Republic of Ireland, the Isle of Man and the Channel Islands. There are people with rare conditions in isolated parts of these islands, and the idea of combining our efforts on rare diseases and trying to achieve an economy of effort that would not be possible within one jurisdiction or health authority is important. The British-Irish Council is ready made to bring added emphasis and commitment to such areas.

It is important to do more than just pledge greater co-ordination and prioritisation for rare diseases; another issue to be dealt with is resources. As individual health authorities find it harder to guarantee a competent concentration of commitment to rare diseases, we must find critical mass at a higher level that transcends the health authorities and the devolved health service areas. That is why the UK strategy is an important concept. The 51 commitments are strong and sound, but there are questions about whether they will, in practice, add up to a full strategy, if they are left to the interpretation of each area individually. At times, there seems to be confusion about when NHS England is driving for the UK as a whole, and when it is in the lead simply as a matter of quantum—because it is the biggest. I am not sure whether there is a full strategy and co-ordination plan, and we need to continue working on that.

Some hon. Members have mentioned excellent work done in various locations, some of which depends on the skilled and dedicated leadership of clinicians, who may move to other posts. We should not take it for granted that the excellence achieved in some places will be sustained and maintained. That is a challenge, not least in the area of rare diseases. People progress professionally and move on, and sometimes the services that they leave are not sustained and maintained with the same quality. That is why—to return to the idea of co-ordination and co-operation across the UK, and more widely across the British-Irish Council—I argue for a central, open faculty. Then the clinicians who provide treatment for, or do research on, rare diseases may not feel that they are working on in isolation, feeling nearly as lonely as some sufferers; instead, they may feel part of a working, open faculty, in which they can connect with other professionals and patients.

I commend the Government and devolved Administrations on formulating the strategy so far, but funding is a fundamental question. We need significant challenge funds to be available, so that specialists who respond to particular patients, identifying needs better and coming up with innovative treatments, are not left trying to busk around within their local health service, trying to get a bit of funding here or there. The fact that the £50 million innovations commissioning fund was an early casualty in the reorganised NHS does not give great encouragement. More needs to be done.

The Minister with responsibility for care is responding to the debate, and as the hon. Member for Plymouth, Moor View (Alison Seabeck) said, few of the rare diseases we have been considering have outright cures or treatments; for many with such diseases, the approach is supportive therapies and coping support. My remarks have concentrated perhaps more on clinical leadership, but care and support are also hugely important. I know that the Minister will be conscious of that. Aspects of what I mean include setting good models and examples of practice and experience; helping individuals—particularly the young people who are sufferers of so many of the rare diseases—and their families; and thinking about improving care networks and the meshing of services, so that people who provide services, whether in education or family support, understand better what rare diseases may entail, and their possible life-cycle variation during the life of a child. People who provide social and education services cannot readily make themselves experts in the conditions in question, and often they confuse conditions whose names sound the same, although they are very different in character, and give rise to different demands and behavioural consequences. Wider support is needed.

Finally, the Government need to take account of the context of welfare reform and changes to several benefits, and the fact that every so often, people must reapply and prove their case for benefits again. That is particularly hard when people have rare diseases. Those people and their families should not have to spell out their condition again, in all the medical jargon, and explain it. They should not be made to jump through those hoops. We should find a better way in the social security system of showing understanding about rare diseases.

[Jim Shannon]

The time it takes to process an application is frustrating for the person concerned—and it frustrates me and other hon. Members, too. In special cases such as those involving rare diseases, I have had to go to someone at the top of the tree in Northern Ireland, to expedite the process. Does the hon. Gentleman think that people with rare diseases should be put in a fast queue, to be processed more quickly?

[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.

[Hugh Bayley (in the Chair)]

We now come to the winding-up speeches. I remind both Front Benchers that we have just under half an hour left.

15:31

[Mr Jamie Reed (Copeland) (Lab)]

Thank you, Mr Bayley; it is a great pleasure to speak under your chairmanship again. It is a huge privilege to follow the hon. Member for Foyle (Mark Durkan), who made an incredibly telling contribution to the debate as usual. He is one of the few hon. Members—I hope that he does not mind my saying this—that it is worth staying in a debate to listen to, and he always has been. There were also tremendous contributions from my hon. Friends the Members for Poplar and Limehouse (Jim Fitzpatrick), for Plymouth, Moor View (Alison Seabeck) and for Blackley and Broughton (Graham Stringer) and an incredibly insightful and welcome contribution from the hon. Member for Wealden (Charles Hendry), who reminded us yet again of what a genuine loss he is to the Treasury Bench.

I thank the hon. Member for Strangford (Jim Shannon), who spoke in a health debate in this Chamber only a fortnight ago. I commented then that his record in contributing to health debates in this Chamber is, in my experience, unrivalled—at least, he is always here when I am here. For those past contributions, for his speech today and for securing this very important debate, I cannot commend him enough.

Figures provided by Rare Disease UK show that one in 17 people will be affected by a rare disease at some point in their life. That equates to about 3.5 million people. As we have heard, three quarters of those affected by rare diseases are children and, tragically, almost one third of those children will die before their fifth birthday. As a father of four children, I can add no words to underline the stark brutality of that statistic. My heart goes out to all the families who have faced such a shocking loss.

The term “rare diseases” refers to more than 6,000 different conditions that can affect the young or old and have an impact on physical or mental health. These can be life-threatening, debilitating diseases, but the term can also refer to manageable conditions.

The very definition of rare diseases, and how these are manifested in the statistics that I have given and that we have heard from other hon. Members, illustrate the fundamental issues that arise when we try to establish a coherent, comprehensive and useful long-term strategy through which to deal with the problems that they present. Some rare diseases will be very similar and advancements in medical sciences and research in one area can greatly benefit another, but some classes of diseases can be extremely different from others and the treatments for those can be wildly different, not sharing any empirical research base. As we have heard, economies of scale are often hard, if not impossible, to find.

That huge difference in dealing with each disease highlights a problem in trying to gear the system with the tools and resources necessary to make advances. With limited resources, any improvement in one area of research can sometimes be at the expense of another. These are difficult calculations and choices. Research and development must be rewarded. Certainty and predictability of funding for this work are essential. Some research—potentially a good deal—will yield no tangible or quick benefit at all. Supply chains, researchers and research and development environments must be identified, supported, grown and nurtured. The loudest voices will not always be the most deserving.

These are invidious choices. Can the Minister explain the Government’s priorities in this regard? How will Government ensure that the right balance is struck between all these competing pressures, and can the Minister tell us what criteria are used by Government to decide how and which areas of research are prioritised?

In 2009, before the last general election, the Labour Government set in motion a UK strategy following the adoption of a recommendation from the European Union in which member states were required to commit to better research and more resources for tackling rare disease. I think that all hon. Members on both sides of the Chamber agree that that was an important step.

It is now just a few weeks since the current Government published the UK plan for rare diseases. We welcome that plan, but I am struck by some of the apparent contradictions between what the Government say they want to do and what they are actually doing. The Minister knows full well that I respect him significantly. We will be spending a lot of time together in Committee on the Care Bill next year, and I hope that we can perhaps establish a precedent and resolve those contradictions today.

In October this year, the specialised services commissioning innovation fund was scrapped. That fund was set up, amid great fanfare, just two months earlier, with the promise that it would save lives and help patients. The fund was intended to provide finances and resources needed to expedite the synthesis of hundreds of potential new treatments for rare diseases. The Prime Minister said that it was

“becoming ever more essential to get your products tested and adopted in the NHS much more quickly”

before warning that

“the newest innovations are often the lowest hanging fruit”

when savings need to be made.

As we have heard, the commissioning innovation fund represented a £50 million investment. The BBC reported that the fund was scrapped due to “financial pressures”. John Murray, the director of the Specialised Healthcare Alliance, called the decision

“bad news for people with rare and complex conditions”.

Will the Minister tell us what those financial pressures are? I could hazard a guess, but I think that we deserve to know.

Of course, this will not be the last time that the Prime Minister says one thing and does another, but can the Minister tell us how this decision affected the interests that I mentioned earlier? Has the Department assessed how this cancellation affected the research and development supply chain, its planning, its recruitment and its work streams? If such an assessment has not been undertaken, will he commit today to doing that? More importantly, has the Department undertaken any analysis of how this chaotic mess has affected the state of the art? Have any potential treatments failed to appear as a result of the funding cut? Have any treatment delivery work programmes been interrupted as a result? It is impossible to believe that the decision has had no effect. More importantly than anything else—I know that the Minister will want to answer this question—have the funding cut and its effects had any negative effect on patients living with rare diseases?

Just one month before the cut was announced, the all-party muscular dystrophy group warned that resources earmarked for rare disease medication had been absorbed by the overall NHS budget. Will the Minister explain how the removal of significant resources that were specifically earmarked for the research and development of new treatments for rare diseases fits with the Government’s stated aims?

Let me move on to the strategy. No one would disagree that there is a need for a co-ordinated effort from all the countries in the UK when tackling the issues before us. I would be grateful if the Minister could explain, when he responds, how the new fragmented system of commissioning of services in England will be able easily to co-ordinate the commissioning of research and the commissioning of what are often expensive treatments for rare diseases and, as we have heard, orphan and ultra-orphan conditions with the NHS in Scotland, Wales and Northern Ireland. Where is the guiding mind with which to achieve economies of scale and critical mass in research, which we know is necessary for these conditions?

It is clear that NHS England has a leading role to play in ensuring that the new strategy is implemented and implemented well. The benefits of a national body taking a lead on that are plentiful, but how does that fit with the idea of creating local areas of expertise, such as the centre at Newcastle university and the centres elsewhere in the country, to steer innovation? Is the driving force behind innovation and new treatments coming from NHS England or from experts on the ground, and how will that work in practice? Of course we need to allow innovators to flourish, but we also need to co-ordinate. Where does the responsibility for that co-ordination rest?

That brings me to my final point. As in any debate on matters relating to health issues, we must always focus on the patient. If patients are not seeing improvements in their care, or they do not experience any easing of the symptoms associated with their disease, the Government —any Government—will have failed. Innovations are meaningless if the patients who rely on them see no benefits. Without the resources to back them up, strategies are little more than meaningless words. For any of us to claim success, patient access to treatments must improve. Many groups, as we have heard, are calling for a form of adaptive licensing to be implemented with regard to treatments for rare diseases. Have the Minister or any of his officials had any contact with, made representations to or received representations from the Medicines and Healthcare products Regulatory Agency with regard to adaptive drug licensing for treatments of rare diseases?

Access to treatments raises several issues from the perspectives of the patient and the manufacturer. First, bringing drugs to market is difficult and expensive. Encouraging drug companies to manufacture drugs and treatments that will benefit a relatively small number of patients is an important and challenging task. In the case of motor neurone disease, for example, no new drugs for the treatment of the disease have been approved since riluzole more than 20 years ago.

We must always ensure that drugs brought to the market are safe and effective. That means that even if the new UK strategy is effective in encouraging greater innovation in the field for developing treatments for rare diseases, those treatments will not be available to help patients for several years. That is not a problem that has arisen solely under the current Government—nothing could be further from the truth—but it is a difficult, sensitive issue. To that end, what are the Government doing to ensure that new treatments are available to improve the quality of life for patients with rare diseases as soon as possible?

From the patient’s perspective, the issue is often cost. Prescriptions for those with rare diseases can amount to a significant financial burden. The previous Government put in place a framework that would have resulted in those with long-term conditions becoming exempt from prescription charges. Can the Minister explain why the coalition Government chose to scrap that? Enabling greater access to treatment is essential, and I hope that the Minister can explain why that has not been given more prominence in the strategy.

As I have said, rare diseases affect millions of people. The impact on sufferers and their families is immense, so the cost of getting the strategy wrong is high. More importantly, no matter how difficult it is and whatever our political allegiances, we are morally obliged to get this right. When the Minister gets to his feet, I hope he can give those people some confidence and help to resolve the contradictions I have outlined. Finally, if the Government can produce a coherent, integrated and effective approach to resolve the problems that they seem to have caused, and to progress those issues in a meaningful and timely manner, they will have my support and that of my colleagues.

15:42

[The Minister of State, Department of Health (Norman Lamb)]

It is a pleasure to serve under your chairmanship, Mr Bayley. I thank the shadow Minister, the hon. Member for Copeland (Mr Reed) for his generous offer of support, and I am sure that we will be able to deliver his preconditions for that support. I congratulate the hon. Member for Strangford (Jim Shannon) on securing the debate. He is, as the shadow Minister has said, one of the most assiduous attendees at health debates and a consistent contributor on a whole range of different issues. We all welcome his contributions. He always makes the case for better co-ordination and collaboration between the different nations of the United Kingdom, and I completely share that aspiration. There is great value in a bit of diversity in the development of our health systems, because we can often learn things from the innovation and experimentation taking place in other parts of the United Kingdom. In opposition, I visited Northern Ireland because I was fascinated by the way in which Northern Ireland commissions and provides health and social care together. I wanted to learn more about the experiences in Northern Ireland, good and bad. Such diversity is to be valued and we should not have a one-size-fits-all approach, but I agree with the hon. Gentleman about the importance of collaboration. The Government’s strategy is an example of where that can be really strong and effective.

[Ms Margaret Ritchie (South Down) (SDLP)]

On the Minister’s point about collaboration, is he aware that a drug to deal with atypical haemolytic uraemic syndrome has been approved in England but the same approval has not been given in the devolved institutions, particularly in Northern Ireland?

[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.

[Hugh Bayley (in the Chair)]

I very much look forward to seeing some of the Front Benchers when we scrutinise the Care Bill in the weeks to come.