Rare Diseases

Mark Durkan Excerpts

Tuesday 17th December 2013 Westminster Hall

[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.

--- Later in debate ---

[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.