Rare Autoimmune Rheumatic Diseases

Jim Shannon Excerpts

Tuesday 10th December 2024 Westminster Hall

[Jim Shannon (Strangford) (DUP)]

I beg to move,

That this House has considered rare autoimmune rheumatic diseases.

It is a pleasure to serve under your chairship, Dr Huq. I have done so many times, and it is always a pleasure to be here and to see you fully in control. It is also a pleasure to see the Minister in his place. I was hoping that it would be this Minister, so when he walked through the door, I was especially pleased to see him in person. By the way, I would have been pleased to see any Minister—I do not want to offend anybody. The shadow Minister, the hon. Member for Hinckley and Bosworth (Dr Evans), is in his place as well. He and I talked last night about this issue.

This debate is, by its very nature, a niche debate. Dr Huq, if you have a constituent who has an autoimmune rheumatic disease or you know somebody with one, you will be here to represent them, but not everybody has, because only a small number of people across the United Kingdom of Great Britain and Northern Ireland have one of these diseases. However, I look forward very much to having the debate.

I was chatting beforehand to the Liberal Democrat spokesperson, the hon. Member for Mid Sussex (Alison Bennett), and she was telling me—she will refer to this herself when the time comes—of the important case of her constituent, a good friend. I will leave it to the hon. Lady to put forward that case.

I have always had a deep interest in any health issues. I am my party’s health spokesperson, and if there are any health debates anywhere, in Westminster Hall or in the main Chamber, I make it my business to attend those debates and to contribute to them, whether by speeches or questions. That is really important. I have a particular interest in rare diseases, and that came through a constituent who lives down the Ards peninsula. I have probably known him all his life. When you get to my age, Dr Huq, there are many people you have known all their lives; that is just a fact. The point is that he married a young girl from the area. She had a rare disease, and my interest came through contact between her and the family and me across the Ards peninsula. Across Strangford, this became a massive issue, and that lady and that family today fly the flag for rare diseases in the Ards peninsula and in Strangford.

I thank the Backbench Business Committee for granting this debate. I think we start from the NHS point of view. I am an advocate for the NHS—always have been and always will be—as we all are in this House. I am one who believes in the foundation of our NHS and the people who hold it together—the people whom we may not meet, but who are the glue and the gel that keeps it going and keeps it together. I am aware of the stress and strain on the NHS, and give my full support as the Government attempt to make the changes that are necessary for the NHS to survive. I very much welcome the Government’s commitment. I think they have committed £26.3 billion to the NHS, and that is a massive contribution. It shows confidence on the part of the Government; we welcome that. My starting position is praise for the people behind those three little letters, N-H-S.

We are beginning to look at NHS restructuring—the Secretary of State has confirmed that, and the Ministers are all committed to it. There are lots of priorities that the Government have to get to, but amongst that is the restructuring. A vital component is that the NHS provides high-quality, equitable care for all people, regardless of how rare or complex their condition is. If you—when I say “you”, Dr Huq, I really mean me or anyone else across the United Kingdom—do not have a rare disease, you may not understand what it means to have one, and how rare or complex a particular condition is, but that tells me that we need to be aware of this issue. We need to reach out and we need to help. The Government have a commitment to rare diseases as well. Although they may not be mathematically or statistically numerous, they represent individuals, families—relatives—and friends, who all understand the issue very well.

I have been interested in rare diseases since I was in the Northern Ireland Assembly, before I came here. We had contact with ladies down the Ards peninsula who were very much aware of rare diseases and the issues, so we started a rare diseases group in the Assembly, which we have continued here over the years. I will use this opportunity to speak on their behalf about some complex, rare diseases—rare autoimmune rheumatic diseases.

[Mr Gregory Campbell (East Londonderry) (DUP)]

I congratulate my hon. Friend on securing the debate. Does he agree that because so few people are impacted by rare diseases, raising awareness among health professionals is a key aspect of helping those people, who may often feel overlooked simply because of the very small number who come into the ambit of the subject matter we are discussing?

[Jim Shannon]

As my hon. Friend often does in these debates, he brings forward a reminder of why this debate is important and why we need to raise awareness. It is about giving confidence to people out there who may have these diseases and may think that they are fighting this battle all on their own, but are not. We need to raise awareness among NHS staff. It is impossible to know about every rare disease, but it is good to recognise the symptoms and to be able to point people in the right direction.

Rare autoimmune rheumatic diseases are a range of chronic, currently incurable conditions in which the body’s immune system damages its own tissues, often in multiple organs throughout the body simultaneously. That is a lot of words but, to use a phrase that we would say back home, it means that they come at a person from all sides. They can lead to tissue or organ damage that, in some cases, can be fatal. We cannot ignore the fact that that can be fatal and the importance of responding in a positive fashion.

At present, the outcomes are not good enough for people living with rare autoimmune rheumatic diseases: they wait too long for a diagnosis, have variable access to specialist care and cannot always access help and support when they need it. In any debate that we have about ill health, we often say that early diagnosis is important, but so is having access to specialist care. It is important that NHS workers are able to notice something that may be unusual and not something that they see every day. It is also important that the care, help and support that people need is available when they need it. Preliminary data from the Rare Autoimmune Rheumatic Disease Alliance’s soon-to-be-released 2024 patient survey found that the average time to diagnose from symptom onset was two and a half years—it is that long before anything happens. In those two and a half years, people suffer, worry themselves sick and wonder, “Am I going to get out the other side?” The data shows that 30% of patients waited five years for a diagnosis from symptom onset.

Rare autoimmune rheumatic diseases impact on around 170,000 people in the United Kingdom of Great Britain and Northern Ireland. Hon. Members may not recognise some of the diseases, but they include Behçet's disease, lupus, myositis, scleroderma, Sjögren’s syndrome and vasculitis. They can affect many parts of the body—the joints, the skin, the lungs, the kidneys or the heart—and often require cross-medical expertise. That is just a small number of the things that come the way of 170,000 people across the United Kingdom. Unlike the vast majority of rare diseases, the conditions occur predominantly in adult life and are predominantly non-genetic. That means that people do not need to have a history of them: they can come out of the blue.

The Rare Autoimmune Rheumatic Disease Alliance, a group made up of clinicians and charities, such as Lupus UK, Vasculitis UK, Scleroderma & Raynaud’s UK and Sjögren’s UK, has set out a number of key solutions to improve care for RAIRDs. They include strengthening existing specialised networks and setting out what good care looks like through a rare disease equality standard. It has also stressed that it is vital that rare disease is not forgotten in upcoming policies such as the NHS’s 10-year plan, which I will refer to later. In that plan, it is really important that we—by which I mean the Government and the Minister—can give hope to people who suffer from those diseases, and it is really important that they do not think they are on their own. The evidential base response from the Minister would give them that assurance, and it is important that the progress made to date by the UK rare diseases framework is built on. That is my first question: is the rare diseases framework part of the NHS 10-year plan?

I want to share an example that has been highlighted to me of someone who has felt the personal impact of rare autoimmune rheumatic disease. Zoi lives with a life-threatening RAIRD, granulomatosis with polyangiitis vasculitis. In her words, she is “lucky” because she had a relatively short journey to diagnosis. When she looks at others, she thinks she is lucky. I would like everybody who suffers from these diseases to have the same luck—if luck is the word. I do not believe in luck; my personal opinion is that everything is predestined. I am interested in how we make it better.

The quick diagnosis came only because Zoi’s GP recognised her symptoms and knew to refer her right away. Does every doctor have that knowledge? I hope they have, but they might not have the personal observation of that doctor. The difference was that he had had a friend who had died of the disease, so he knew what to look out for and red-lighted those symptoms.

Despite Zoi’s positive experience of diagnosis, however, her experience of care since has been variable—that is the second stage. Following diagnosis of the disease, the care system works its way out. She has faced long waits for appointments and poor communication between teams responsible for her care. In one instance, she received a letter from a consultant four months after the date of the appointment. Was that the fault of the Royal Mail? I do not know. It was not Zoi’s fault that she did not know about the appointment until it was too late. It meant that she had been taking a medication unnecessarily for months longer than needed.

It is about early diagnosis, treatment going forward and speed and urgency in the process to make it happen. Zoi works for a charity that supports other people living with vasculitis. She describes it as “heartbreaking” that hers is one of the best diagnostic journeys one will hear of. She has been diagnosed and gone through the NHS process to get out the other side and try to be better. As she says, hers is one of the best diagnostic journeys, but how can the rest be improved?

How do we improve care? Speedy diagnosis should not be down to Zoi’s word “luck”. People such as Zoi living with serious rare diseases should be able to access vital care when they need it. That is why I am calling on the Minister to consider the following recommendations advocated by RAIRDA. It is important to be aware of the issues.

The first recommendation is to ensure that rare diseases are a focus of the NHS 10-year plan. I am always pleased to see the Minister in his place. I mean that genuinely, not to give the Minister a big head. He comes with an understanding that we all greatly appreciate— I do and am sure everybody else does. Will there be a focus in the 10-year plan on rare diseases? I am pretty sure the answer will be yes, but we need confirmation of that in Hansard today. We need to reassure our constituents who are struggling with disease and are unsure what the future means for them.

The UK rare diseases framework, introduced just three years ago in 2021, has been a significant step forward in securing equity of treatment for rare diseases. I welcome that, but sometimes the system does not work as well as it should. It is crucial that the Government do not lose sight of the work done to date to drive change for people living with rare conditions. Good work has been done, and I always like to recognise good work. It is important that we give encouragement to those who are working hard, and it is important sometimes to think, when we are ploughing away, what we are getting for it. Many of us—all of us in this room, for instance—appreciate what our NHS does. The good work that has happened for those with rare conditions needs to continue with the same zest, enthusiasm and fervour as it has done in the past.

It is particularly important that the working groups on the NHS 10-year health plan consider how improvements in rare disease care will be championed in that plan. In addition, it is important that the plan considers how the work plan of the UK rare diseases framework will be continued past the framework’s end point in 2026. That is my second ask. I am sure that within the 10-year plan the Government are committed to that continuation, but I need to personally reassure my constituents and we need to reassure the nation. We need to reassure those 170,000 individuals and their families and friends.

The framework has been an important tool in co-ordinating methods to improve care for rare diseases, and not just in England. I understand that health is a devolved matter, but this is how it works: whatever happens here, health-wise, is the next stage for us back in Northern Ireland, through the Health Minister. I was talking to another Health Minister on the tube coming here, and we were saying how important that co-ordination across all four regions is. It is good to push for that here, and to see it received back home.

The framework has been an important tool in co-ordinating methods to improve care for rare diseases, not just in England but across the United Kingdom of Great Britain and Northern Ireland. The numbers of people suffering in Northern Ireland may seem small numerically, because we are a region of 1.9 million people, but the impact is huge. I am overtly aware that health is a devolved matter, but I am also aware that the standard can and should be UK-wide. The Minister always gives me and those from other parts of this great United Kingdom reassurance on the co-ordination between here and the Northern Ireland Assembly. I know he has met the Health Minister, Mike Nesbitt, and I am sure they will meet again in the foreseeable future.

How do we develop a standard of care? The National Institute for Health and Care Excellence quality standards consist of defined, measurable statements that can be audited to reduce variations in cases throughout the country. A rare disease quality standard would help to incentivise an increased focus on delivering high-quality care and treatment for rare conditions in the NHS, including rare autoimmune rheumatic diseases. That is my third ask: to develop the standard of care we need to have a quality standard, which would help to incentivise all the regions—all the parts of England, Scotland, Wales and Northern Ireland collectively; better together.

Work in this area is already well under way. RAIRDA has been working hard with organisations across the rare disease community to understand what good care looks like for people living with rare disease, and how that should be reflected in quality statements. Has the Minister had the opportunity to talk to the alliance? I am sure he has; I do not doubt that for a second. It would be good to have that liaison to help to bring together the ideas from the alliance and the Government. It is important that the current work to develop quality statements is built on in a timely way, with the swift development of a rare disease quality standard.

On my fourth request, it is clear that we need development in IT capacity in the fight for diagnosis, to ensure that more people can experience a quick diagnosis, like Zoi did. We need to increase funding for research into the diagnostic journey for rare autoimmune rheumatic diseases, to aid the development of diagnostic technology. It is really important that we look towards the next stage on research and development. How do we do that?

To sidestep slightly, today’s paper—I think it was the Express—said that the Government should be doing something to look at dementia as the numbers rise. Although we are talking about rare diseases that will be well down the Government’s to-do list, early diagnosis is important, as is research and development to improve the capacity to find a cure, to lessen the pain and to lengthen the time that people have in this world. Again, any indication of what is happening with research and development would be greatly appreciated.

Investment in research would help to identify blockers to rapid diagnosis, as well as supporting the development of digital tools for faster and more accurate diagnoses. Some months ago my colleague, the hon. and learned Member for North Antrim (Jim Allister), asked the Secretary of State for Health and Social Care a question in the Chamber about the report on the way forward for the NHS. He mentioned the need for digital data tools, and the Secretary of State replied very positively, so I think the Government are looking into this, but it is important that we have the digital tools in place. With better data and more accuracy, we can help to speed up the process and find a better way forward.

Because of their rarity, it is unrealistic to expect every hospital to have clinicians with expert knowledge of rare autoimmune rheumatic diseases. I understand that, as we cannot know everything. Clinicians may have a small portion of knowledge, but this subject requires expert knowledge, so we need another way of doing it. A 2024 survey found that 29% of respondents were not very, or not at all, confident that the specialist healthcare professionals providing their care understood their condition. How do we improve that? I understand that we are in difficult, financially straitened times, and the Government have rightly committed a large sum of money to the NHS and health services—as they should, and I support that entirely—but we need improvement. My fifth ask of the Minister is: how can we do better? If 29% of respondents are not very confident, or not at all confident, we need to address that.

I believe that improvement can be achieved by developing specialised networks for rare autoimmune rheumatic conditions. Such networks would allow health professionals to access the knowledge and expertise of tertiary specialists, while also developing the capability and capacity to provide more care and treatment locally. I feel that would be the answer to my fifth question, and I am interested to hear the Minister’s thoughts.

Networks already exist, with an excellent example being the Eastern Network for Rare Autoimmune Disease, established in 2016. We have a system in place, so let us look at it—not in a judgmental way—to see what it is doing and where improvements can be made. The network was formed to maximise patient access to relevant expertise while keeping their care as close to home as possible. This has been achieved by setting up excellent communication and cascading training to enable much better co-ordination, digital data sharing and contact between specialised centres and local trusts.

The network lead has calculated that the network’s creation has saved the NHS money, so it has to be considered. The network runs at a cost of between £70,000 and £100,000, but it has generated annual savings estimated at between £150,000 and £200,000. That means that for every £1 spent, the NHS has saved £2, over a seven-year period, through a reduction in the use of inappropriate high-cost drugs.

On my sixth ask, networks throughout the country, like ENRAD, are run on the good will of clinicians. That is not sustainable, and it never can be. I respectfully ask the Minister to perhaps look at the ENRAD scheme, which is run on the good will of clinicians and has been very effective in how it responds, to see how such networks can be better helped to expand. If it saves money—if every £1 saves the NHS £2—then the financial equation is clear, and it should be pursued across all of this great United Kingdom of Great Britain and Northern Ireland.

To address this issue, the Government must provide the necessary financial support for networks to be developed and maintained. That funding would enable the creation of vital posts, such as meeting co-ordinators, and allow clinicians to be reimbursed for their time. Again, I feel that would be the right incentive. Good will is good to have, and there is much of it across this great nation, but, at the same time, there may be better ways of doing things. Such support would ensure that benefits for patients, and the NHS’s budget, could be realised throughout the country. With the £25.3 billion committed to the NHS—I think that is the figure, but the Minister will correct me if I am wrong—this is another way to save money in the NHS, and it really should be done.

My last request is about specialist nurses, who can play a crucial role in supporting people living with rare autoimmune rheumatic diseases. The preliminary results from the 2024 survey show that respondents with access to a specialist nurse were more likely to report that they had access to enough information and support about their condition, compared with those who did not have any access to a specialist nurse. But less than three in 10 respondents—some 28%—had accessed information from a specialist nurse, and this varied widely by condition group. Wow: how important is the role of specialist nurses? I would be reassured if the Minister came back to me in respect of the critical role they play, perhaps exclusively. If only 28% of people have access to information from a specialist nurse and it should be more, what can be done to improve that?

Finally, when developing the NHS workforce plans, will the Minister consider what more can be done to recruit more specialist nurses to support people with rare autoimmune rheumatic diseases? We must always consider the fact that although the chances of getting a rare disease may be one in 10,000, the reality is that the patient deserves all the help we can offer, from diagnosis to treatment and support. I ask the Minister—very kindly, sincerely and humbly—to clarify whether that is this Government’s goal. I believe that it is, but it is not about me today; it is about the people we represent in this House, collectively, together, across this great nation. I believe we have an important role to play.

RAIRDA, with all the clinicians and all the charities, has brought together some positive ideas that can help us together. This is not about blame—it is is never, ever about blame; it is about how we do it better. On behalf of my constituents who have contacted me, and others who will speak shortly, and for the shadow Minister and the Minister, we put forward our case and look forward to support from Government.

[Dr Rupa Huq (in the Chair)]

I remind Members that they should bob if they want to be called in the debate.

--- Later in debate ---

[Jim Shannon]

I thank all hon. Members for their contributions. I refer first of all to the hon. Member for Bootle (Peter Dowd). It is always a pleasure to hear him make his contribution. Even when there are things that are said in other debates which I may challenge, he always delivers his contribution in a lovely way and not many people can do that. Today he delivered something that we all agree with. I thank him for that and I mean that sincerely, but he knows that. He referred to the effect upon the family. He is right, and also right that those who want to work are not able to. He said he did not want to see these diseases at the back of the queue and he is right on that as well. All those things are pertinent to the debate.

My hon. Friend the Member for East Londonderry (Mr Campbell) referred to awareness and training. Again, a very salient intervention for which I thank him. The Minister is right that there is no better way of telling a story than giving an example, and the hon. Member for Mid Sussex (Alison Bennett) told of her good friend, Carrie, and the effect upon her and upon her mummy as well. Sometimes they were wondering what it was all about when the condition worsened, and how the health service responds is critically important.

The shadow Minister, the hon. Member for Hinckley and Bosworth (Dr Evans), brings to any debate his wealth of knowledge—from his own personal experience and from his vocation as well—and he does so sincerely. He referred to the two groups: those with tissue and those with vasculitis. He referred to the vision for the rare disease framework and the new action plan. I did not previously know about the tie-up between Birmingham, Newcastle and Queen’s University Belfast for research and development and I was really interested to hear about it. I know about some of the things Queen’s University do but I did not know about that specifically and so I thank him for that, and for the wee reminder of how to get onto that as well. That has really been helpful.

I am encouraged by what I have heard today. I referred to research networks and support, and working collectively to make this situation better. Disease modification drugs need to be regulated. This is a wee reminder of some of the things to be done—it is not always straightforward by the way, either.

This debate was never about me or about any of us here. It is about patients and our constituents; about those who we serve in this place. Today I think the Minister has developed a very positive response. All of those out there—my constituents, and those of the hon. Member for Mid Sussex and of the hon. Member for Hinckley and Bosworth—will be encouraged, because they will be listening to this debate and they will want to know what the Government are going to do. They will be encouraged by the things the Minister referred to: highlighting the rare diseases, the personal stories, to raise awareness. That the diseases are rare but collectively they are common was a salient and poignant comment. On measuring and reporting progress, he referred to the 2026 end of the framework but the Minister gave us assurance—he referred to a mission and to contacting the four nations so they can approach it together and commit together. I think that is also an answer to one of the questions I asked. That is what the Minister has committed himself to doing and we should be reassured by that.

Diagnosis should be timely and accurate, and the Minister referred to GeNotes and the digital improvements. That is really important as well. He also referred to NICE, to encourage research and development for rare diseases because we have to look forward to someday hopefully finding a solution. He also referred to the ENRAD, which is a good model for all to follow. Government will put this idea to the fore, where there has been a good example. The Minister is right about the economic and health commitment for clinical trials, so that our patients win each time. He also made encouraging comments about training and workforce—early prevention, faster diagnosis, better outcomes. I think those who have rare diseases—170,000 across this great United Kingdom of Great Britain and Northern Ireland, and all the families of those people—will today be encouraged by this debate and the contributions from all sides. Most importantly, I say a sincere thank you to the Minister.

Question put and agreed to.

Resolved,

That this House has considered rare autoimmune rheumatic diseases.