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The Minister for Social Care (Helen Whately)
I thank the hon. Member for Strangford (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 the hon. Member for Blaydon (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.
Just last week, on 28 February, we marked Rare Disease Day. On that day, we heard first-hand stories of the huge impact of rare diseases on people’s lives, and many of those stories have been echoed today. Some of the challenges facing people with rare diseases are unique and personal, but many others are shared by the 3.5 million people across the UK who make up this diverse and resilient community. The Government are committed to overcoming the challenges in order to secure a better future for all of those living with rare diseases.
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 the hon. Member for Enfield North (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.
Jim Shannon
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?
Helen Whately
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.
Liz Twist
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.
Helen Whately
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.