– in Westminster Hall at 2:53 pm on 9th March 2023.
I beg to move,
That this House
has considered the matter of patients with rare diseases.
I thank Members for attending this afternoon. The 3 o’clock debate is often referred to as the graveyard shift, simply because there is no pressure on us in the main Chamber, so most Members have probably decided to make their way home. However, I am very pleased that some Members have made it their business to stay, so I thank them for that.
I am pleased to see the Minister in her place—she knows that I am fond of her. She always responds to my questions, as she did on Tuesday during Health questions. I am pleased as well to see the shadow Minister, Feryal Clark. She is looking bright and breezy, given her condition. She does not have long to go now, but I am pleased to see her and we think of her often.
I have always been interested in rare diseases. In the Northern Ireland Assembly, I was a member of the Northern Ireland rare disease partnership. We have Patrick Toland from Northern Ireland in the Public Gallery today. I am pleased to see him and other members of rare disease groups. I will refer to them during my speech.
This subject first came to my attention through a constituent who told me that she had a rare disease. That is how I learnt about its prevalence and the numbers of people with rare diseases. I am the Democratic Unionist party’s health spokesperson, so I am pleased to be in a position to raise the issue of rare diseases in the best place—right here in Westminster Hall with a member of the Government, the Minister. Other representatives are here to do the same thing.
I have been contacted by many people who have asked me to highlight their cause. I will attempt to highlight as many as I can while still doing them justice. Rare diseases might simply be numbers for many of us, but for the families and the individuals, they are everything in life. We will remember that when we mention the figures. As some might be aware, 3.5 million people in the UK will be affected by a rare disease at some point in their lives, and 95% of rare diseases currently lack an approved treatment. However, there is hope on the horizon for the patients living with these devastating diseases—we will hear examples from other Members as well—with an increasing number of gene therapies.
I am pleased to see in the Chamber the chair of the all-party group on rare, genetic and undiagnosed conditions, Liz Twist. She has much knowledge and brings a depth of detail and evidence to this debate. I congratulate her on the work that she does in the APPG, and I look forward to her contribution.
When it comes to gene therapies and advanced therapy medicinal products, many of which target rare diseases, there is the potential for those therapies to become a reality. Ultimately, we are always seeking that reality. The 62 ATMPs that are expected to be launched in the UK between 2023 and 2027 give us hope and some confidence that therapies and medications will be available for those with rare diseases. There is a need to act now to prepare the UK access and reimbursement landscape and to ensure that the system is ready to capitalise on the opportunities presented by the therapies. We look to the Minister—no pressure—to understand our preparedness and tell us what steps will be taken to prepare the NHS for the changes on the horizon.
I know that the Minister is responsible for England and that health issues are devolved to Scotland, Wales and Northern Ireland. However, I will ask towards the end, when we summarise our thoughts, that the Minister and the devolved Administrations work together. That is really important, because we can benefit from one another’s knowledge of the strategies here and the strategies in the regional Administrations.
The Neurological Alliance, which is a network of 80 organisations that work together to improve neuro services and transform the quality of life for people with neurological conditions, reports that one in six people in the United Kingdom of Great Britain and Northern Ireland live with a neurological condition. One of those is a rare neurological condition—an acquired nerve condition—called Miller Fisher syndrome. I ask about that because it has been brought to my attention by some of my constituents back home. Miller Fisher syndrome, or MFS, is a rare acquired nerve disease, first recognised by James Collier in 1932 as a clinical triad of ataxia, areflexia and—I will get tied up in these words—ophthalmoplegia. It was described in 1956 by Charles Miller Fisher as a possible variant of Guillain-Barré syndrome. I suspect that we may know that from the past.
MFS is rare, so like many rare diseases, it is often difficult to diagnose. It affects one to two people per 1 million each year. In MFS, the immune system attacks the nerves, which causes the demyelination of the nerve fibres in the brain and spinal cord. Most patients with MFS have a unique antibody that characterises the disorder. Patients suffer weakness of the eye muscles, blurred vision, impaired limb co-ordination, unsteadiness of gait and a loss of tendon reflexes. Other symptoms may include facial paralysis, difficulty swallowing, limb weakness and respiratory failure. With Miller Fisher syndrome, a lot of complex issues hit the body all at once.
MFS is a rare condition for doctors to encounter, so the presenting symptoms can initially lead to a list of different possible diagnoses. It is not possible for every doctor who is confronted with those symptoms to know exactly what the condition is. I will give another example shortly that shows that it sometimes takes days before those with the knowledge of rare diseases can diagnose which one it is. The presenting symptoms of ataxia and ophthalmoplegia can be confusing for the consultant and can suggest signs of motor neurone disease or, sometimes, multiple sclerosis. I have had many friends over the years who have had MS, and I had a very good friend who, unfortunately, died of motor neurone disease. I know some of the actions and symptoms that come from that.
One of my members of staff developed MFS in 2015. She reported the experience of the early onset of MFS as a gradual loss of control of the arms and legs in the days before, severe back pain, and a loss of feeling in the fingers and toes. She recalls, just before the onset of the condition, staggering into accident and emergency at the Ulster Hospital in Dundonald, which is our main hospital, looking like someone who was highly intoxicated —it looked like that, but it was not true. She was unable to walk in a straight line, and she struggled to remain upright. Just hours later, she was unable to walk or stand, and total paralysis set in over her whole body in a matter of hours. Obviously, that was incredibly worrying—not knowing what is wrong, but knowing that she could not blink. That gives hon. Members an idea of the complications.
It took several days for a diagnosis to come through, after discussions between the consultant specialist and researchers at Queen’s University Belfast, which does exceptional work in diagnosing and trying to find cures for rare diseases. My staff member recalls how, in the early days leading up to her diagnosis, there were discussions about MS or motor neurone disease, because doctors thought that her symptoms indicated that that was what was wrong. That was very frightening for her. Obviously, to think that she had either of those would be frightening enough, but when doctors looked, they realised that it was neither of them. Anyone would be desperate to know what on earth is happening to their body, and why they are unable to control any of their actions.
The good news is that the condition is rarely fatal—one of the few benefits. However, the most serious aspect is that patients can develop respiratory failure, and may require intubation in the intensive care unit. Awareness of rare conditions such as Miller Fisher syndrome needs increased focus, because it has a relatively sudden onset. It can happen very quickly, usually after pneumonia or a respiratory illness, which can trigger some of the problems. The patient does not know what is happening to them, other than that their body is suddenly grinding to a halt. They cannot walk, feel their hands or feet, swallow or see properly. It is as if their whole body is just shutting down; it is incredibly worrying.
Awareness and information is vital so that consultants may diagnose the condition faster and treatment can be administered. The advantage with MFS is that, once identified, it can be treated very effectively with immunoglobulin transfusions leading to a full recovery. A demyelinating condition such as Miller Fisher syndrome strikes without warning and is very frightening to experience; sufferers do not know what is happening, and they worry about what the future has in store for them.
It is vital that the Neurological Alliance Of Scotland, the Wales Neurological Alliance, and the Northern Ireland Neurological Charities Alliance are adequately resourced to collect the evidence and conduct the research needed to create real change throughout this United Kingdom of Great Britain and Northern Ireland. That way, there will be the support for the one in six people who experience rare neurological conditions such as Miller Fisher syndrome.
My question to the Minister is one that I often ask, but it is very important to do so. When it comes to research, what money are the Government setting aside for it? We are greatly encouraged by the money that is spent on research, but we want to see more—not for the sake of spending money but to find cures for diseases. When we look at the universities across the United Kingdom of Great Britain and Northern Ireland, Queen’s University in Belfast is one of the leading examples when it comes to trying to find cures for diseases. I know that is also replicated in Scotland, Wales and across the whole of England.
Another rare disease that I would like to raise awareness of is pemphigus. There are two major forms of pemphigus, and they are categorised based on the layer of skin where the blisters form and where the blisters are found on the body. The type of antibody that attacks the skin cells also helps to define the type of pemphigus. Pemphigus foliaceus is less common and only affects the skin. The blisters form in upper layers of the epidermis and may be itchy or painful. With pemphigus vulgaris, which is the most common type in the UK, blisters form in the mouth and other mucus surfaces, such as the nose and elsewhere, as well as on the skin. They develop within a deep layer of the epidermis and are often very painful.
Pemphigus vulgaris is by far the most common variant of pemphigus and even this type is rare, but it leaves lasting effects. We are discussing rare diseases that inhibit the ability to have a normal life—we are here to talk for those people. Cases of PV in the UK have been noted to be rising, and it is estimated to be found in 0.68 per 100,000 in the population. It is a rare disease that is unfortunately becoming a regular occurrence. The incidence of this strain is higher in women and in older age groups. Again, those are a category of people who need help now.
There was a time when PV was almost impossible to treat. Deaths were recorded as recently as 30 years ago, with a rate of 79% of sufferers dying within a year of diagnosis. That was before the advent of corticosteroids, which now effectively treat PV and bring it under control. There is an ethnic group aspect to the prevalence of PV; although it is seen in all races, it is noted to be found more frequently in Asian populations and in Ashkenazi Jews. PV may occur at any age, but is mostly seen in women between the ages of 30 and 70, and in adolescence girls are more often affected than boys. Again, we have moved forward and research has delivered. We should welcome the fact that a medication has been found that means that people do not die from it.
Pemphigus, like Miller Fisher syndrome, is associated with other autoimmune diseases and has been reported to have an association with myasthenia gravis. Normally, the immune system protects the body from infection and disease. At present, researchers do not know what causes the immune system to turn on the body’s own proteins. There is something wrong; we need to find out what it is. Evidence suggests that genetic and environmental factors may be involved. An environmental factor may trigger pemphigus in people who are at risk because of their genetic background. That is why it occurs more in those of an Asian background. In rare cases, pemphigus may be caused by a tumour or by certain medications that harm the body internally.
No one knows what causes pemphigus, but it is known that, like many other related diseases, there is a genetic fault at the start and a trigger, such as stress, another illness or a drug used to treat another condition, causes it to erupt. I use that word on purpose, because erupt is what it does—it comes on almost like a volcano and changes the person’s whole life. It is possible also these diseases tend to appear in later years because the immune system weakens with age.
A cure for these diseases is unavailable today, but they can be treated successfully. Remission can be achieved from pemphigus with either no ongoing treatment or a very small maintenance dose of the drug that manages it. Those are some of the steps forward. It is not cured, but the person can learn to live with it.
Support groups such as PEM Friends offer information and advice to people living with pemphigus. I ask the Minister to engage with PEM Friends, clinicians and researchers to gauge what steps can be taken to ensure proper funding is in place to address what can be a disfiguring disease and to work to find an effective cure. That is my second ask.
Rare diseases action plans have been published in Scotland, Wales and Northern Ireland. There is a framework in place, and I believe we can work better together on these matters. I said that at the beginning, and I still believe that. We can learn from each other, share what we have learned and all help each other across this great United Kingdom of Great Britain and Northern Ireland.
One in 17 people across the UK will be affected by a rare disease at some point in their lives, including approximately 110,000 people in Northern Ireland alone—wow, that is some figure! There is a large community that often feels lost, lonely, and isolated because of the rarity of their condition, which even their health professionals often have not heard of before. It is the nature of things that GPs do not know every rare disease.
The Northern Ireland Rare Diseases Partnership is a key stakeholder in the Northern Ireland rare diseases action plan. It highlighted its input into that important document, which could lead to great improvements for the Northern Ireland rare disease community. It stated that progress and work at speed are greatly hindered by the fact that that important action plan is unfunded. I ask the Minister: can discussions take place? Can we work together, fund the research together, and co-operate so that we all benefit from the research and the rare diseases action plans?
Let me leave Members with some statistics. Thirty per cent. of children diagnosed with a rare disease will not see their fifth birthday—just let that sink in. Rare diseases take an average of five years to diagnose, and only 5% of the 8,000 rare diseases have treatments.
Time is beating me. I have not raised the need for funding for Duchenne disease, including for research into the SMART suit. People will ask, “What’s a SMART suit?” Before I left my hotel, there was a mother on television telling her story. She is from London, I understand. Her son sang and played the guitar, but as he got older he unfortunately lost power in his arms. That lady was able to find someone to fund a solution: she got, I think, £1.25 million of lottery funding. The greatest wish of that wee boy of 14 was to play the guitar and sing at Woodstock. When someone loses upper body strength and function, they lose the ability to do the little things that are really the big things, like putting their hand up in class, feeding themselves and hugging their mum. However, a wearable device that will help to restore arm function—the SMART suit—is currently being developed, after being perfected by that lady for her son, with help from lottery funding and in conjunction with the University of Liverpool.
I have not been able to go into the plight of those with muscular dystrophy or even touch on Huntington’s disease. I will be in touch with the Minister separately to take those issues forward.
There is a common theme across a number of organisations that needs to be highlighted, as summarised by one of the bodies I have been in touch with, Takeda. Individuals and researchers from Takeda are in the Public Gallery today. First, there must be an improvement in the quality of care for people living with hereditary angioedema in order to bring UK standards in line with international best practice. A postcode lottery is sadly a reality for many, and I was pleased to hear thoughts on this at a meeting yesterday. With the quality of care determined by where a patient lives, variation continues across the HAE patient pathway.
Secondly, there must be an improvement in the time to diagnosis. The path to an accurate diagnosis can be a long and convoluted journey, which not only is an unpleasant and anxiety-inducing experience for a patient living with a rare disease or condition, but can delay access to the appropriate disease management, unnecessarily worsening the disease state. Unfortunately, it takes an average of 6.2 years to diagnose.
Thirdly, there must be an improvement in healthcare professional awareness. Rare diseases may present with multiple symptoms and healthcare professionals may not be familiar with a rare disease, which can lead to a lack of referral to the appropriate specialist. There is room for improvement for clinical professional awareness of HAE in all healthcare settings, particularly in A&E—just one example of where that extra focus is needed—so that patients presenting with acute and potentially life-threatening attacks can receive the most appropriate care when they need it most. If the Minister needs any more information, I am sure the organisation that is present would be more than happy to press for improvements through the Minister to make life better.
We also need an improvement in access to specialist care. Living with a rare disease often involves receiving complex care from multiple specialities. However, people living with HAE do not always have the access to specialists they need. I think we should make a plea for them. Some of them are here in the Public Gallery today, so it might be helpful to make a comment along those lines. That is particularly the case for access to psychologists, so that patients can manage the mental health impact of living with their condition. Very often, when it comes to physical problems, mental problems are not far behind. The pressure of life, deteriorating health and family, work and financial pressures all make a difference.
In addition, we need an improvement in access to treatment. Of the orphan medicines licensed in Europe between 2017 and 2020, only 71% are fully reimbursed through the NHS in England, and only 64% in Scotland. There are licensed treatment options aimed at minimising the number and the severity of HAE attacks, which can significantly improve quality of life and control of disease.
Looking at what can be done to help people with rare diseases is what today’s debate is about. We very much look forward to the response from the two shadows, the hon. Members for Enfield North and for Edinburgh North and Leith (Deidre Brock), and particularly from the Minister.
I understand that we cannot fund everything as we would like—if only we could—but there is more we can do. I urge us in this place, and the Minister, to do just that. We can make GPs more aware and ensure that there is training to recognise and cross-discipline information available to help to find that diagnosis. There are families who can be helped by knowing they are not alone; there are others going through the same thing, looking to connect. We can look at funding and deals with pharmaceutical companies; there are many out there who wish to help, and seek just that wee bit of encouragement and partnership with Government to take that forward. We must be determined to advance in any way we can. That is my desire, and I believe it is the desire of us all, including the Minister. We look to her, and to the Government, to lead the way on making progress with rare diseases.
I will conclude by saying that I believe we have something special here that we need to take forward. With that in mind, I hope that we can have good contributions from the shadow Ministers and my friend, the hon. Member for Blaydon, who chairs the APPG on rare, genetic and undiagnosed diseases. We look forward to the Minister’s response, because it will give encouragement to those who are here today.
It is a pleasure to serve under you in the Chair, Mr Sharma. I congratulate my friend, Jim Shannon, on obtaining this really important debate. I want to talk about the rare disease action plan and other issues affecting rare diseases.
I was first introduced to the rare disease community when my constituent Barbara got in touch to discuss the difficulty she was having in accessing treatment for her son, who has phenylketonuria, or PKU. Thankfully, we were able last year to get access to the drug to treat PKU, sapropterin—thankfully, it is now a generic—in order to treat those who respond to it, and I am glad that we were able to do that. Since then, and with that experience, I have taken on the position of chair of the all-party parliamentary group on rare, genetic and undiagnosed conditions. It has been an absolute joy to work with some incredibly resilient communities who face a range of complex and common challenges, despite the different symptoms, conditions and situations they face.
I want to give some context by setting out a few statistics, which may be familiar to some hon. Members. One in 17 people will be affected by a rare condition at some point in their life, which equates to around 3.5 million people in the UK. A rare condition is a condition that affects less than one in 2,000 people. There are over 7,000 rare conditions, as we have heard, and around 95% of people living with a rare condition have one of the 400 most common rare conditions. Some 80% of those conditions have an identified genetic origin, and 75% of rare conditions affect children. That sets the context: although rare diseases are individually rare, they actually affect a large proportion of the population.
The challenges facing people with a rare disease—and, let us not forget, their families—include waiting years for a correct diagnosis and, once they have a diagnosis, difficulties in accessing treatment and support. This is quite often due to a lack of awareness of rare conditions among healthcare professionals, a lack of licensed medical products to treat the conditions, and a lack of mental health support. In my dealings with the rare disease community and patient groups, I have certainly found that having a rare condition places huge strains on people and their families, and it really tests their mental health and wellbeing. More broadly, the lack of recognition leads to further problems in accessing a whole range of services, including education, social care and housing.
I will refer to issues that we need to look at further, some of which are touched on in the rare disease action plan, particularly the second version for England, which the Minister issued two weeks ago, on Rare Disease Day. First, I will talk about newborn screening, and specifically the issue of faster diagnosis. The UK could be doing more with newborn screening. The blood spot heel-prick test given to every newborn in the UK screens for a maximum of nine conditions, but many countries in Europe, and other parts of the world, screen for more than double that number.
Newborn screening is an absolutely vital tool in the light of new treatments being developed that can have a really life-changing impact if delivered pre-symptomatically. Take spinal muscular atrophy, a rare condition causing progressive muscle weakness and loss of movement due to muscle wasting. Without swift treatment, it is the leading genetic cause of infant death. Babies treated pre-symptomatically can experience life without symptoms, but once symptoms have developed, most infants with SMA will never walk independently. Many will need mechanical ventilation, nutritional support and continuous care.
Ten European countries and all but two US states have moved to approve SMA newborn screening, but we are yet to see progress on that in the UK. We have children born with SMA that is not identified at the earliest opportunity. Treatments are helpful only if they are used immediately, before symptoms develop. It is really important that we do that. There are other conditions that we believe could helpfully be screened for in the newborn heel-prick test. That would allow for the treatment of a number of conditions as children develop.
Unfortunately, due to the rare nature of some conditions, it can be challenging to develop a large body of evidence to support newborn screening for them, in the light of the high bar set by the UK National Screening Committee. As chair of the all-party parliamentary group on rare, genetic and undiagnosed conditions, I know that Genetic Alliance, which provides our secretariat, has held discussions with a representative of the committee to look at the wider issue, not specifically SMA. I have recently been working with the all-party parliamentary group for muscular dystrophy and the rare disease community on an inquiry on newborn screening for SMA. Hearing the testimonies from families and clinicians, it is clear that there needs to be a change to the process in recognition of the difficulties inherent in making decisions about rare conditions, and the difference that a longer list of screened-for conditions could make.
I next want to mention care co-ordination, an issue that is tackled in the action plan. Due to the lifelong and complex nature of many rare conditions, people often need support from a wide range of healthcare professionals, from specialist hospital consultants to learning disability nurses, and a wide range of multidisciplinary services. Too often, we have found that the burden of organising care is left on individuals and their families, placing further strains on them.
For example, on Rare Disease Day, the APPG heard from Blessing, who was born with sickle cell anaemia. Blessing’s care was organised between London hospitals, and she often found herself having to personally update health and educational professionals on aspects of her condition and care. She spoke to us candidly about the emotional strain that placed on her and her parents, and how it affected her whole relationship with the healthcare system.
Unfortunately, on a visit during one of her episodes, Blessing went on to be diagnosed with a rare lymphoma in her early 20s. She described the change she experienced at that stage, and how she was supported through the experience by a care co-ordinator, who briefed her on everything she needed to know about accessing, for example, travel support, help to stay in work, and a social worker during treatment. That was through the identification of the cancer, and not through her rare disease. In Blessing’s words, she had never felt closer to a healthcare professional, despite having been in close contact with the healthcare system her whole life. That is not to undermine the impact the cancer diagnosis had on Blessing’s life, but to emphasise the importance of well-organised logistical support that bridges the gap between services.
A report from Genetic Alliance UK found that more than 90% of people living with rare conditions and their care givers have struggled with stress, anxiety and low mood, with many of them citing limited knowledge of their condition as a contributing factor. It is absolutely clear that care co-ordination, as well as the appropriate psychosocial support, is needed to support the rare disease community.
I want to talk about research and development, because there are still so many undiagnosed conditions—cases where there is clearly an issue, but no one can put a name to the condition. That is difficult for developing treatments and helping families. We know the impact that innovation in research and development can have on patients, as proven by the progress in treatments for conditions such as SMA and PKU. In November last year, I visited the Wellcome Centre for Mitochondrial Research, which is based in Newcastle University. I was blown away by the incredible and inspiring work they are doing. Mitochondrial disease, or mito, is the term for a group of medical disorders caused by faulty mitochondria, which generate about 90% of the energy that we need to live. These disorders can be serious or fatal. Furthermore, faults in mitochondria are the root cause of hundreds of other conditions, including cancer, Parkinson’s, epilepsy, dementia and strokes. One in 200 people in the UK carries a faulty mitochondrial gene. There is currently no cure, but great work is being done in Newcastle and other centres.
Newcastle’s Wellcome Centre for Mitochondrial Research team are internationally recognised world leaders in their field, with strong links to clinical practice, which is a distinctive part of their work. They work with patients to develop treatments and help them. Their dedication and contribution is a great source of pride for the north-east region, but investing in the research is critical to the success of the whole operation. Researchers such as the mito team in Newcastle often rely on short-term grants, making it difficult to build the long-term project that would deliver the seismic change that is needed. I urge the Government to extend their role in this field, and to place funding for rare disease research on a secure footing. I am glad to say that the leader of the centre and some of the representatives were able to speak briefly to the Minister when she came to our rare diseases reception.
The UK rare diseases framework is a good sign that we are making progress on raising awareness of the issues faced by the rare disease community, whether it be care co-ordination, faster diagnosis or licensing new medicines, but long-term funding and resource are needed if we are to realise the aspiration set out in the action plan. Committing to improving care for people with rare diseases means producing a tangible change in their day-to-day experience of the healthcare system and other services. I hope we can come together as parliamentarians to help realise this change.
I ask the Minister to keep up the pressure, through the action plan, so that we make the necessary changes, support people with rare diseases, and find cures and treatments. I ask the Minister to ensure that people with rare diseases have a faster diagnostic odyssey, as they call it, and to look again at continuity of care. The Minister might have seen the report produced by Genetic Alliance UK on Rare Disease Day, which sets out in more detail its findings on what needs to be done. That is one of the planks of the rare disease framework, and it is something on which we need to see action. We need to ensure, as the hon. Member for Strangford said, that there is access to new treatments. We need to do that via the innovative medicines fund, and I would be pleased to hear how that is progressing, because some people are feeling a bit frustrated with the situation.
We also need to ensure that the National Institute for Health and Care Excellence, which reviewed the methods last year, and has gone to a modular approach to reviewing its decision making—hopefully one that is more responsive to the needs of individual groups—keeps rare diseases at the forefront of the process.
It is a pleasure to serve under your chairship, Mr Sharma. I congratulate Jim Shannon on securing this important debate. I was certainly not familiar with some of the details that we have heard today. I look forward to the Minister’s response.
A rare disease is defined as a condition that affects fewer than 1 in 2,000 people, but that statistic in isolation is misleading. It is estimated that over 412,000 people in Scotland have a rare disease—more than one in 10. Rare diseases might be individually rare, but collectively they are not uncommon. The hon. Member for Strangford reminded us that we must not look at the statistics simply as a series of numbers, because those numbers represent people and the family members around them—a very important point. He shared details of conditions that he is familiar with, and some that he is personally acquainted with through colleagues.
The hon. Member also spoke of the importance of the four nations working together. He will be pleased to hear that the Scottish Government worked closely with the other devolved bodies and the UK Government to produce the new UK rare diseases framework, which builds on the 2013 UK strategy for rare diseases. He is always an optimist, and he reminded us that there is hope, given the work being done on these issues. He brought our attention to the smart suit, which I had not been aware of. That sounds like a really positive development, so I look forward to hearing more about that and the differences it can make to the people who will be able to make use of it.
Liz Twist, chair of the APPG on rare, genetic and undiagnosed conditions, spoke of the challenges for those with rare conditions, and described how they wait for years for a correct diagnosis. She spoke about the lack of recognition and diagnosis, which leads to further difficulties accessing vital support for housing and benefits—a really important point.
I thank the hon. Lady for making that point. I mentioned that it takes, on average, almost five years for a diagnosis. I am sure she will ask the Minister to get the diagnosis timescale reduced to a manageable period, because it is unacceptable to have to wait five years.
It is indeed unacceptable. I am sure the Minister will address that point. I thank the hon. Member for that intervention.
The hon. Member for Blaydon mentioned the emotional strain experienced by those with rare conditions and their families. Again, that was an important point. She also highlighted the need for longer-term funding for research and development. I hope the Minister will be able to give us good news on that front, because that is a crucial issue. Short-term funding dries up and leaves researchers high and dry when they could be progressing a method of addressing the conditions that people suffer from, which is what we would all like.
Rare Disease Day, marked on the last day of February each year, brings the rare disease community together to advocate with one voice, and to raise awareness of the impact of these often overlooked or unknown conditions, most of which do not have large advocacy groups or funding grants. Today marks an important opportunity to draw attention to them in Parliament, so I again congratulate the hon. Member for Strangford on securing the debate.
The long-term goal of the Rare Disease Day campaign is to achieve equitable access to diagnosis, treatment, health and social care, and social opportunity for people affected by a rare disease. As hon. Members have highlighted, rare diseases are often life-threatening or chronically debilitating, and can have a wide-ranging effect on a person’s life, impacting education, financial stability, mobility and mental health. As the hon. Member for Strangford said, 75% of rare diseases affect children, and more than 30% of children with a rare disease die before their fifth birthday—a tragic statistic that must strengthen our resolve to improve our knowledge, understanding and treatment of rare diseases.
As has been pointed out, for those living with a rare disease, a diagnosis is crucial to understanding how they can move forward with their life, treatment and prognosis. However, sadly it takes on average almost five years to receive an accurate diagnosis of a rare disease. It is therefore vital that all those living with a rare disease get the right diagnosis faster, and can access co-ordinated care and specialist treatment. That is a core objective in the Scottish Government’s rare disease action plan, published in December. It sets out how the Scottish Government will implement the priorities of the UK rare diseases framework. It was developed in close collaboration with the rare disease community to ensure that their needs are appropriately reflected across wider policy on, for example, mental health and social care.
The plan includes a number of objectives on ensuring that patients receive a faster diagnosis, including through genomic testing, which the Scottish Government are supporting through the implementation of the Genome UK strategy. The Scottish Strategic Network for Genomic Medicine was recently established to advise and make recommendations on genetic testing availability. It will also support the planning for future capacity in areas such as whole genome sequencing and expanding our whole exome sequencing services. Later this year, Scotland’s first ever genomics strategy will be published and backed by significant investment, with £5 million committed for 2022-23 alone.
As the hon. Member for Blaydon mentioned, newborn screening has a vital role in early diagnosis of some rare diseases and the initiation of early treatment to reduce complications. The Scottish Government are represented on the UK National Screening Committee, which makes its recommendations to all four health Departments across the UK. Through Scotland’s rare disease implementation group, those living with a rare disease will be involved in any future screening considerations, and given information so that they understand how screening impacts them and their families.
Another important commitment is the planned expansion of the Congenital Conditions and Rare Diseases Registration and Information Service for Scotland. That includes a national register that collects and holds information about babies in Scotland with a major structural or chromosomal condition or recognised syndrome. The register will be extended to collect and hold information on other rare diseases. Access to better data on rare diseases and making use of digital tools can help clinicians to make better informed decisions on care, prevent disease and allow better access to research and clinical trials. As has been mentioned, there are over 7,000 different rare diseases, so it is not possible for healthcare professionals to receive comprehensive training on every condition. It is therefore important that they are aware of rare diseases more broadly, and are more alert to considering them.
The Scottish Government are working with NHS Education for Scotland to embed more formal education about rare diseases in the training for healthcare professionals. In addition, information on rare diseases on NHS digital platforms will be improved, both for those diagnosed with a rare disease and for healthcare professionals.
Finally, the action plan sets out steps to improve the co-ordination of care, so that people living with rare diseases will have fewer wasted appointments, will benefit from the expertise that is available through multidisciplinary care, and will get care that is better tailored to their needs. That includes improving access to treatment and drugs, building on the ultra-orphan medicines pathway, which is improving access to medicines for rare and end-of-life conditions.
The Scottish Government are establishing a national care service to ensure that Scotland’s social care system consistently delivers high-quality services to benefit many people living with rare conditions. That is made possible by record funding of more than £19 billion for health and social care in the recent Scottish Budget, which represents more than £1 billion of new investment. I agree with the hon. Member for Strangford that it is imperative that we all continue to work across devolved and reserved areas to generate change for those living with rare diseases, their families and their carers. No one should be made to feel helpless or invisible because they have a rare disease.
It is a pleasure to serve under your chairmanship this afternoon, Mr Sharma. I start by paying tribute to Jim Shannon for securing this debate today and for all the information he provided; I feel a lot more knowledgeable about the variety of rare conditions than I did before I came to the debate. He covered quite a lot of important statistics that we should all take notice of. I also pay tribute to my hon. Friend Liz Twist, chair of the all-party parliamentary group for rare, genetic and undiagnosed conditions, for her contribution.
As has been set out, a rare disease is generally considered as one that affects fewer than one in 2,000 people. While the occurrence of individual rare disease is low, it has been estimated that around 3.5 million people in the UK are living with one of the more than 7,000 rare diseases. The hon. Member for Strangford and my hon. Friend the Member for Blaydon both noted that 75% of these diseases affect children, and more than 30% of children with rare disease die before their fifth birthday. That is truly devastating.
With that in mind, I welcome the Government’s 2023 rare diseases action plan, but I have a few questions about the detail, starting with screening and early diagnosis. I was pleased to see the Government focus on that area in the action plan, which suggests that the NHS is exploring the implementation of whole genomic sequencing to screen for up to 200 rare genetic conditions in newborns. That is fantastic news.
Will the Minister clarify whether that scheme will be accepted and be implemented? As we have heard this afternoon, funding is a major issue in this area. If this plan is going to be implemented, will the Minister tell us how it will be funded? There is a lack of clarity in the action plan.
Early diagnosis can prevent and mitigate many of the complications associated with rare diseases. Therefore, it is imperative that such a scheme is made available as soon as possible. We heard from the hon. Member for Strangford on MFS, and from my hon. Friend the Member for Blaydon on SMA. If these conditions are diagnosed early on, while there may not be a cure, there can be treatment. That is why it is really important to get more information about this scheme as soon as possible.
The 2023 action plan also states that changes to the UK National Screening Committee have helped to improve how decisions are being made on newborn screening. Will the Minister clarify when those changes will come into effect and be actioned? I do not want to look back, but if we look back to 2021, the UK screened for just nine conditions—so hon. Members will understand why I was excited to see the 200 figure. We screened for only nine conditions in 2021, whereas Iceland and Italy screened for more than 40. Will the Minister update us on how many conditions are being screened for in the UK and whether the number has increased from nine since 2021?
Secondly, let me focus on workforce challenges in the rare disease action plan, which my hon. Friend the Member for Blaydon highlighted as one of the key areas for the rare diseases community. A recent survey by Rare Disease UK found that nearly half of all respondents did not feel that they were being given enough information or support about their condition and the care that they needed post diagnosis. It is clear that we need to scale up our wonderful healthcare professionals to equip them with skills and the awareness of rare diseases. For some people, as we have heard, it can take up to five years on average to get the correct diagnosis.
That brings me to the Lily Foundation story, which particularly touched me. I met Lily’s mother at one of the events organised by my hon. Friend the Member for Blaydon. Lily’s mother set up Lily’s Foundation, and it was a delight to speak to her. She is a part of the mitochondrial research campaign. Lily was diagnosed with mitochondrial disease when she was born in 2006; her mum said that the family felt shocked, isolated and devastated. They researched for information and support, but found none. There is no cure for mitochondrial disease—MD—and Lily sadly passed away when she was only eight months old. Although there is no cure, there is treatment, which focuses on relieving symptoms rather than treating them. According to NHS England, many aspects of MD can be prevented or helped by early diagnosis, before symptoms start to show.
The Government’s action plan states that it seeks to address the awareness of rare diseases by expanding digital educational resources on rare diseases for healthcare professionals. How will those programmes be delivered to healthcare professionals to ensure that we actually raise awareness? On the workforce, 7 million people are waiting for months—even years—for treatment, yet the Government cut the number of medical school places this summer. Given the need for an increased amount of care for rare disease patients, as well as more focused care, how do the Government plan to increase the number of available staff to support the aims of the 2023 action plan and wider strategy?
We heard a lot about the need for funding for research into rare diseases, and I want to focus on the Government’s £340 million innovative medicines fund. That was launched last year, and it is designed to provide for quicker access to the most advanced life-saving treatments. Why has it not yet been used? The Association of the British Pharmaceutical Industry has significant concerns that the design of the fund makes it difficult for companies to use. Will the Minister update us on whether the Government are addressing the industry’s concerns about the fund? If the fund is available, it should be used to find new treatments for rare diseases.
Finally, the indicators for measuring the success of the rare disease action plan have not yet been specified, so I would be grateful if the Minister set out when they will be specified. Without them, it will be impossible to assess whether care needs have been met or accurately measured by improvements in health outcomes.
This has been a great debate, and I thank both the hon. Member for Strangford and my hon. Friend the Member for Blaydon for continuing their campaign in this area. [Interruption.] Sorry, and Deidre Brock—I am slightly forgetful at the moment. I know that the Members present are determined to ensure that the voices of patients with rare diseases are heard, and that children and adults have access to the best knowledge, diagnosis and treatment available. I look forward to hearing from the Minister.
I thank Jim Shannon for securing today’s important debate on rare diseases; it is always a great pleasure to debate these issues with him. He is so good at raising health issues that otherwise might not be talked about in this place. As he often does, he covered a huge range of things in his speech and very effectively brought the situation to life with personal stories of people he knows and patients. When he says to me that there is no pressure, I am not sure that he entirely means what he says, but he does it in an extremely friendly way.
As the Minister with oversight of rare diseases, among other things, in the Department for Health and Social Care, I welcome the pressure and the interest that the hon. Gentleman and other Members of Parliament have shown in this issue. He made the point, as did others, that rare diseases are rare but collectively common, especially among children, which, very sadly, leads to short lives for some. During the course of my speech I will mention many of the things that he raised this afternoon.
It was good to hear too from Liz Twist, who is very effective in her role as chair of the APPG on rare, genetic and undiagnosed conditions. She spoke about some of the problems for people with rare diseases, including potentially waiting a long time for a diagnosis, the difficulty in accessing treatments, mental health challenges, and difficulties with co-ordination of care. She also mentioned the importance of the screening of research, and she spoke about access to the innovative medicines fund. Again, I shall pick up on several of those points this afternoon.
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The 2021 UK rare diseases framework embodies our commitment to this issue. The framework sets out our vision of how to improve the lives of people with rare diseases through four vital priorities: helping patients get a final diagnosis more quickly, increasing awareness among healthcare professionals, better co-ordination of care, and improving access to specialist care, treatments and drugs—many of the things that have been mentioned during the course of the debate.
The framework was established thanks to the National Conversation on Rare Diseases survey, which received thousands of responses from the rare diseases community about the issues that matter most—the same issues that we have heard about today. These continue to drive forward our focus on UK-wide improvements, putting patients’ voices at the heart of decision making and the policy development underpinning all our work.
To deliver on our ambition, all four nations have now published rare diseases action plans, which set out how they will deliver the aims of the framework in ways that work for the specific populations and healthcare systems of each nation. I was pleased to be able to publish England’s second rare diseases action plan last week, on Rare Disease Day. This publication allowed us to reflect on some of the progress made during the last year.
The hon. Member for Strangford raised the case of his colleague who developed Miller Fisher syndrome and the experience she faced in receiving a diagnosis. It sounded unbelievably frightening for her—going into hospital with those symptoms and the several days she spent waiting for a diagnosis, hearing people around her talking about all the possible things she might have. I was very glad that she was diagnosed, and I hope she has made a good recovery. That case demonstrates the known problem that rare diseases can be hard to diagnose.
In our latest action plan, we report on some of the progress made on diagnosing rare diseases. Genomics England has developed a clinical research interface, which has helped identify over 1,000 new complex diagnoses for people with rare diseases. One illustration of the real-world impact of those developments is the 19 new diagnoses of Rett syndrome in 2022. Rett syndrome is a debilitating rare condition found in children that can be complex to diagnose. Those new diagnoses have helped to explain symptoms and enabled children and their families to access care.
The hon. Member for Strangford also highlighted the need for awareness of rare diseases among healthcare professionals to avoid delayed diagnosis and treatment. Over the last year, we have also made progress in increasing awareness of rare diseases. For example, Health Education England has developed GeNotes, a set of innovative educational resources on genomics and rare diseases, which will help put information at the fingertips of healthcare professionals. We continue to take steps towards improving co-ordination of care—addressing the point that the hon. Member for Blaydon made—through the roll-out of a toolkit for virtual healthcare consultations. This helps people with complex, multi-system rare diseases access multiple specialists on one call without needing to travel.
On treatment, significant progress has been made in improving access to specialist care, treatment and drugs. The hon. Member for Strangford rightly highlighted the emerging potential of cell and gene therapies for treating some rare diseases. The innovative medicines fund was launched by NHS England and NICE, to fast-track the most promising, cutting-edge medicines to NHS patients. Together with the early access to medicines scheme and the innovative licensing and access pathway, this will support early access to novel treatments. I assure Feryal Clark, who asked about it, that the innovative medicine fund is open for applications for treatments for rare diseases. We also continue to monitor access to high-cost treatments for rare diseases across England, taking steps to ensure equal access to treatment across the country.
As the many stories shared today have highlighted, there is still much more to do. That is why England's second action plan sets out 13 new commitments to ensure everyone living with a rare disease gets the treatment, care and support they need. That includes a greater emphasis on co-ordinated access to specialist health and social care, including mental health and special educational support. Again, that addresses some of the points made by the hon. Member for Blaydon.
The hon. Member for Strangford raised the impressive research that has led to the development of the smart suit, helping young people with Duchenne muscular dystrophy maintain the use of their arms. It is truly an exciting and wonderful thing to talk about. The 2023 action plan also emphasises the importance of research to translate scientific breakthroughs into cutting-edge diagnostics and treatments. In August, we announced £12 million of funding to support the UK rare disease research platform, which will accelerate the understanding, diagnosis and treatment of rare diseases. A £790 million investment from the National Institute for Health and Care Research in biomedical research centres will also support rare disease research.
I am very conscious, Minister, that my knowledge of that smart suit simply comes from watching BBC 1 before I left the hotel one morning. It was a mum who, on behalf of her 13 or 14-year-old son, managed to get lottery funding of £1.25 million. She was the lady who developed the smart suit; she is not just a mum, but obviously much more, as she was able to do that. The Minister may not know, but could she come back to us on whether, now that it has been developed and the plans for the smart suit are there, it is possible that other people with Duchenne muscular dystrophy could also take advantage of it?
As the hon. Member described, it is fantastic that a mum who saw the problem and the opportunity came up with a way of helping. I will have to write to him to answer his question. I assure him, and everyone present, that we will take further steps to make it easier for the rare diseases community to participate in research. That is exactly the point. It is very important that those most affected—the individuals and their families—are involved in research and innovations, such as the one the hon. Gentleman described. We will continue to improve the use of securely held national datasets in research.
Our new plan seeks to reduce the health inequalities experienced by people living with rare conditions. The hon. Member for Strangford spoke of pemphigus vulgaris and its greater prevalence among some ethnic groups. That is one aspect of health disparities, but health disparities can be faced by all people living with a rare disease when they seek to access the services they need, and we aim to address that. Through NHS England’s Core20PLUS5 framework, we will help integrated care systems to address the health inequalities faced by people living with rare conditions.
Similar efforts are under way in all four nations of the UK. Although each nation is taking a distinct approach through its action plan to best meet the needs of its healthcare system and population, we continue to work closely across the four nations to ensure that we learn from each other.
I assure the hon. Member for Strangford that I share his views about the importance of co-operation across the UK on rare diseases. The rare diseases advisory group at NHS England has membership from all devolved nations to ensure that it identifies and seizes opportunities for collaboration. Patients can move between parts of the UK to access specialist services.
The hon. Member for Blaydon mentioned the newborn heel prick, or newborn blood spot screening programme, and asked whether we could screen for more conditions, specifically spinal muscular atrophy, or SMA. We test for more than 30 rare conditions during pregnancy and the newborn period, and nine conditions via newborn blood spot screening. There is a good reason why we screen for fewer conditions in the UK than in other countries: it is because we believe that we have a more rigorous approach to evaluating the benefits, and also potential harms, of screening than other countries.
The 2022 rare diseases action plan committed us to establishing a blood spot task group to further develop the evidence base for newborn blood spot screening. The UK National Screening Committee has since established the blood spot task group, which is working to improve the evidence available to the screening committee when considering the screening programmes to be added to the blood spot.
Having had discussions with the newborn screening committee representative, I am aware of the concern that we do not want to go too far, and we want to be rigorous, but it does seem that, in comparison with many other countries, we are selling ourselves short. I am glad to hear about the taskforce, and I know that Genetic Alliance UK is represented on that, but there is real concern in the rare disease community that there are things that we could be testing for. We do not seem to be able to make progress. SMA is a classic case of that.
I hear the hon. Lady’s concerns. There is clearly a level at which it would be inappropriate for me to get involved in such decisions, which are generally made by expert committees, but I am happy to look into her question further, and to write to her with what I find out.
I want to leave everyone present with a clear message: the Government are committed to addressing the challenges faced by the rare disease community. I understand that at times it can seem as though progress is not happening quickly enough. Nevertheless, we have seen real progress since the publication of the action plans, and I want us to go even further. With the continued support and partnership of the rare diseases community, for which I am immensely grateful, we will not only strive but succeed in doing better for those with rare diseases every single day.
May I say a big thank you to everyone for their contributions? I was greatly encouraged by them. Liz Twist understand the issues well and has great knowledge of rare diseases, which is why she is the chair of the APPG on rare, genetic and undiagnosed conditions. The heel prick seems a very simple solution, and the Minister said she is prepared to review that. We take encouragement from her response; that is something that could be done easily.
The hon. Lady also referred to care co-ordination for learning and physical disabilities, and she gave the example of her constituent, Blessing. Care is so important because the whole family is part of the package. She referred to R&D—we all did, because we all recognise its importance; so does the Minister, to be fair. The Government have committed £12 million to that, so that is good news.
Deidre Brock gave a Scottish perspective. We often hear that, and it is important, because we all see the great benefits of the four regions working together. We all included that in our speeches. She referred to the smart suit—it is incredible what one lady could do. She also referred to the Scottish genomics strategy and the financing for it. That is an example of where Scotland leads the way—other hon. Members will have to forgive me, but it often does. She referred to a national register for data—that is good. She is absolutely right that we need money set aside, an action plan and better co-ordinated care.
I thank Feryal Clark very much for her contribution. There is nothing wrong with her memory, by the way. She referred to early diagnosis, and she welcomed the 2023 rare disease action plan. Sometimes, if we cannot find a cure, we can at least make the person’s quality of life better. We sometimes have to settle for less to get more, and in that one sentence the hon. Lady summed up what we are all about. It would be great to have the cure every time; that is not possible, but it is possible to make lives better. I thank her for that. She also referred to the need to skill up the NHS, and she gave the example of her wee constituent Lily—we heard what happened to her, and we all think of her. The hon. Lady also referred to R&D.
Last but certainly not least, I thank the Minister so much. It is a pleasure to come to debates—I mean this honestly, not in a condescending way—when the Minister understands the issues really well and responds to the questions we ask. She said she will look at the heel prick blood test to ensure we can solve the problem. She came up with ideas about new diagnosis, new treatment, specialist care, gene therapy, the £12 million of extra money set aside for research, and mental health and education support. Those are the things that we all asked for, and they were all in the Minister’s speech.
I am a great believer in the Union. I say that honestly; I am not trying to be political. It is clear to me that the four regions could come together as one and do it in a way that we all benefit from. Every one of our constituents, in Scotland, Wales, England and Northern Ireland, can benefit from what is being done in other places. It is really good to have that on the record.
I thank the Minister, hon. Members and the audience in the Public Gallery. I also thank you, Mr Sharma, for the way you chair our meetings, and the Hansard staff, who are very sympathetic and patient with my language.
Question put and agreed to.
That this House
has considered patients with rare diseases.