I remind hon. Members that there have been some changes to the normal practice, in order to support the new hybrid arrangements. Timings of debates have been amended to allow technical arrangements to be made for the next debate, so there will also be suspensions between each debate. I remind Members participating physically and virtually that they must arrive at the start of the debate in Westminster Hall. Members are expected to remain for the entire debate. I must also remind Members participating virtually that they are visible at all times, both to each other and to us here in the Boothroyd Room. If Members attending virtually have any technical problems, they should email Westminster Hall Clerks. Members should clean their spaces before they use them and before they leave the room. I remind Members that Mr Speaker has stated that masks should be worn in Westminster Hall except, of course, when speaking.
There are no more notes from me but a reminder that we shall move to winding-up speeches at about 5.28, and after the first speech I am afraid I shall have to put in a formal three-minute time limit, because it is a heavily subscribed debate.
That this House has considered the implementation of the UK Rare Diseases Framework.
It is a pleasure to serve under you in the Chair, Mrs Miller. About one in 17 people will during their lifetime be affected by a rare condition. Around 70% of such conditions begin in childhood and are lifelong. Genetic Alliance UK estimates that rare diseases are responsible for about one third of infant mortality in the UK. Those living with a rare condition can face significant challenges in getting a diagnosis, getting access to treatment, and receiving co-ordinated care, as well as challenges with employment, education, social life and mental health.
The UK rare diseases framework, which was published earlier this year, presents an opportunity for the rare diseases community. There is hope that the framework will enable people living with rare, genetic and undiagnosed conditions to get access to the appropriate care and the treatment that they need to manage their condition. However, we have been here before. In 2013 the UK strategy for rare diseases was published, with the promise that no one would be left behind just because they have a rare disease. When the strategy expired last year, people living with rare conditions were confused and disappointed. Although the strategy had made some progress, it had failed in its commitment to transform the lives of all those affected by rare conditions.
A major factor that prevented the true potential of the strategy from being realised is the long delay from the Department of Health and Social Care or NHS England in developing and publishing an implementation plan. The strategy was published in 2013, yet an implementation plan for England was delivered only in 2018. Not only did that prevent progress in England; it also stymied developments in the devolved nations, which were unable to collaborate effectively without a plan. As yet, the Department of Health and Social Care and NHS England have not published the outcome of the strategy. If we are to learn from the mistakes of the past, we must evaluate what happened with the strategy. Will the Minister comment on whether the Department of Health and Social Care and NHS England will in fact report on the outcome of the strategy?
We now move to a three-minute time limit, to help as many hon. Members as possible to participate.
5:03 pm
Andrew Lewer (Northampton South) (Con) [V]
It is a pleasure to serve under your chairmanship, Mrs Miller. I congratulate the hon. Member for Blaydon (Liz Twist) on securing this important debate.
Motor neurone disease is a devastating and rapidly progressing neurological condition that leaves individuals unable to walk, talk, eat and, ultimately, breathe. It is a rare disease in this sense, because sadly one third of people die within one year of receiving their diagnosis, but at present one in 300 people will develop it in their lifetime.
There is currently no cure, but as chairman of the all-party parliamentary group on motor neurone disease, I have had the privilege of hearing about the pioneering research that is under way to find effective treatments. Huge progress has already been made, particularly in terms of understanding which genes cause the disease and of subsequent pioneering gene therapy trials such as that conducted by Professor Chris McDermott at the University of Sheffield.
It would be disappointing, when scientific advancements are at their most promising, to see Government funding for MND research plateauing. Although charities have picked up the shortfall, this source of funding is under more pressure than ever because of covid-19. In this context, the Government’s recent announcement of the rare diseases framework provides a welcome and much needed opportunity. It is encouraging that one of the framework’s key priorities is to improve access to specialist care, treatment and drugs, and that one of its underpinning themes is to encourage and support pioneering research into rare diseases. Key to successfully delivering this will, in part, be the completion of ongoing NICE methods and a process review changing how we access new medicines. It will also come from close partnership between the devolved Administrations and the voluntary sector, which is already working to support pioneering research.
In the same vein, MND Scotland and My Name’5 Doddie Foundation are asking the Government to consider investing £50 million over five years to establish a virtual MND research institute. It would be designed to create a world-leading drug discovery and development programme, to establish a sustainable MND trials platform and to implement a rigorous clinical research programme. The institute and the funding would help the national and local delivery of this new framework’s key aims of improving the lives of those living with MND and embedding personalised care in the UK healthcare system. I thank the Government for the support they have already shown, and I look to them for more regarding the research institute.
It is a great honour to serve under your chairmanship, Mrs Miller. I congratulate my hon. Friend the Member for Blaydon (Liz Twist) on securing the debate and on her excellent opening speech. The rare diseases framework is welcome, but in order to deliver on the vision it is important to reflect on the experiences of those with rare diseases over the past year.
I chair the all-party parliamentary group on muscular dystrophy, and last month our meeting brought together people living with muscle-wasting conditions, leading health professionals and charities representing relatives to discuss the impact of covid-19. It came after a month-long survey conducted by Muscular Dystrophy UK to assess the impact of covid-19 on people living with muscle-wasting conditions and their families and the effect on accessing healthcare services. There were over 400 survey responses and they were very concerning. The comments made at our APPG meeting backed up many of the survey’s findings.
We heard that the delivery of standard care had been put on hold and essential services were interrupted, and that it was proving very difficult to regain muscle strength after losing six months to a year of physiotherapy. Some had experienced diagnostic tests being put on hold as resources were diverted because of the pandemic and a number of clinical trials were also halted. Worryingly, the physical and mental impact of shielding has left many people reluctant to go out even to hospitals when restrictions are relaxed.
Our APPG also considered what might happen when restrictions are relaxed and we return to some kind of normal life. Infrastructure challenges for service provision still remain, and there is concern about if and when staff and resources redirected to covid-19 will return to neuromuscular services. Virtual clinics have had a positive impact and there are benefits to be taken forward of continuing these for some people, especially taking into account issues such as long travel times. However, not everything can be assessed or picked up virtually. Routine face-to-face appointments are still critical.
I thank the hon. Member for Blaydon (Liz Twist) for securing this important debate on the challenges faced by people living with rare diseases. I am delighted to have the opportunity to speak about phenylketonuria, which has been mentioned already, and to put on record my own concerns about access to treatment for this condition, including the drug Kuvan.
I am raising this issue on behalf of constituents who have been in contact with me about it. In particular, I am grateful to Leanne Barnett for meeting me to discuss the impact that PKU continues to have on her twin daughters, who were born with the condition, and on the family as a whole. I really appreciated gaining an understanding of the extraordinary challenges of living with rare diseases such as PKU, and I believe that Leanne’s case illustrates the problems that many people face, which are unacceptable problems in a modern society.
I will not go into the details of the condition, but we know that the main treatment available at the moment is a strict low-protein diet. For anyone who is a parent of young children, babies or toddlers, managing any diet is challenging, but managing a diet with low protein is extremely difficult. Everyday life becomes filled with anxiety, putting incredible strain upon the parents, who know that one mistake might cost the child their life or lead to brain damage. Leanne explained to me that
“PKU life can feel extremely isolating as the condition is so rare. It’s exhausting having to explain the condition and even then most people think it’s just a food allergy”.
She told me that managing her daughters’ diets is
“difficult and time consuming to manage and almost impossible to adhere to well enough for optimum treatment”.
She explained that, as her daughters grew, she would have to
“measure and monitor everything they eat, restricting the amount of natural protein they consume, which was really…stressful”.
It is a pleasure to serve under you as Chair, Mrs Miller. I was not aware of the rare metabolic disorder phenylketonuria, or PKU, until my constituents with PKU explained that it prevents them from metabolising phenylalanine, or PHE, which is an amino acid in protein foods. The standard treatment is a low-PHE diet, removing almost all natural protein and replacing it with prescribed medical dietary proteins to ensure adequate nutrition.
The PKU dietary regime is very complex, very restrictive and very difficult to manage. I joined the all-party parliamentary group on phenylketonuria, which was formed by my hon. Friend the Member for Blaydon (Liz Twist), and became vice-chair. I congratulate her on securing another PKU debate today. The National Society for Phenylketonuria, a charity set up in 1973, is remarkable. It has no premises and no full-time staff, but is run by wonderful volunteers with personal experience of PKU.
Managing PKU is extremely demanding. Every meal, snack and drink must be planned in advance. People with PKU and their families spend on average 19 hours every week preparing their diet. Many of them have applied for personal independence payment, which is assessed on the basis of how much help is needed with ordinary daily living activities, one of which is managing therapy or monitoring a health condition.
The Department for Work and Pensions has not accepted that the PKU diet is a therapy, so many people, including my constituents, have been denied the daily living activities component of PIP, even though they need hours of help from relatives every week to manage their diet. However, in 2020 a tribunal decided that the PKU diet qualifies as a therapy, following a legal challenge by a 21-year-old man whose PIP application had been refused by the DWP. He appealed to the first-tier tribunal, but it agreed with the DWP that his PKU diet was not a therapy. He appealed again to the upper tribunal, which found that the first-tier tribunal should re-examine his case, because the reasons it gave for reaching its decision were not adequate. The case re-examination found that his PKU diet was a therapy under PIP criteria, because he needed more than 14 hours of help per week and therefore met the criteria to qualify for PIP, and should receive £87.65 per week. That is good news, but it remains to be seen whether this will govern future DWP decisions about PKU. I sincerely hope that it will, to help the brave PKU sufferers who struggle every minute of every day to live with such a challenging rare metabolic disorder.
5:15 pm
Tom Randall (Gedling) (Con) [V]
It is a pleasure to serve under your chairmanship, Mrs Miller. I congratulate the hon. Member for Blaydon (Liz Twist) on securing the debate. It is a welcome debate and an opportunity to discuss those rare diseases that, by their very nature, do not have the large advocacy organisations to speak about them. This week I received a mailshot from one of the UK’s leading cancer charities. While that is a welcome and worthwhile effort, rare diseases—those that affect fewer than one in 2,000 people—do not have those resources and it is important that we speak about them.
I welcome the publication of “The UK Rare Diseases Framework”, which has four priorities. I will speak briefly on priorities 2 and 4. Priority 2 is to increase awareness of rare diseases among healthcare professionals, which I think is crucial. I am co-chair of the all-party parliamentary group on axial spondyloarthritis, which is not a rare disease—it affects one in 200 people—but the eight-year delay in diagnosis has been attributed, in part, to a lack of knowledge by healthcare professionals. I fully support any increased awareness of rare diseases.
Priority 4 is to improve access to specialist care, treatments and drugs. As others have said, I have seen that myself with phenylketonuria, which I had not heard of until I met the parents of Hurley, one of my youngest constituents. They came to see me to discuss Hurley’s condition. PKU affects fewer than one in 10,000 babies. As we have heard, it means that the body cannot process protein, which results in a severely restricted diet.
The drug Kuvan has been available but was not widely licensed despite promising results. I welcome the news that Kuvan is now available, but it is not available for over-18s. That causes understandable concerns not only for adults, but for those in their late teens who are approaching a point when their treatment will become unavailable. I will add my name to those calling for the wider licensing of Kuvan for those with PKU.
This is a welcome debate and there is a responsibility on all MPs to speak up for their constituents who have rare diseases, to make their case heard. I look forward to continuing to do so with colleagues.
It is a pleasure to serve under your chairmanship, Mrs Miller. I pay tribute to my hon. Friend the Member for Blaydon (Liz Twist).
PKU is a disease that leaves people unable to break down protein. It can lead to severe brain damage. Kuvan is a life-changing drug that can help people cope with PKU. NICE’s decision to offer Kuvan only to patients up to the age of 18 is wrong. There is no miraculous cure for PKU when patients turn 18.
The transition to adulthood is a tough time already; 18-year-olds are moving away from school and often away from parental support, whether attending university, beginning an apprenticeship or starting a career. It is a difficult time. NICE’s decision strips young people of a life-changing drug when they are at their most vulnerable. Giving patients Kuvan and then taking it away turns an 18th birthday into a day of dread. Never mind the joy of a Greggs sausage roll, PKU patients cannot even grab a healthy salad or a vegetarian sandwich. The disease requires an exacting regulation of food intake.
I met Liam, a 20-year-old constituent who has PKU. The first thing that struck me was Liam’s mother bringing him bags of special ingredients. Careful planning is essential. Everything is homemade and all the ingredients have to be measured out, for Liam’s safety. Preparing the food is a full-time job. Liam has never had Kuvan and is in his second year at university studying policing. He has planned and worked hard to contribute to society, but he fears that without Kuvan this would not happen. There are hundreds like Liam who want to make a positive contribution. I asked him for his thoughts on the decision. He said:
“The overwhelming feeling right now is one of betrayal. We have spent 12 years fighting for this drug, seeing it within our sights, our hopes finally rising at the prospect of receiving such alife changing drug, only to have it snatched from us.”
5:20 pm
20 of 45 shown
The UK rare diseases framework is the beginning of a new chapter. For it to be implemented effectively, the Department of Health and Social Care and NHS England must work together to deliver a timely and comprehensive action plan. That action plan is needed now more than ever because the rare diseases community has been waiting long enough for improvements in care and treatment. The pandemic continues to bear heavily on the health and wellbeing of those with rare conditions, who are among the most vulnerable to covid-19 impacts. There is a gap in detailed policy to drive improvements for people living with rare conditions in the UK, until action plans are published to implement the framework.
The framework covers four key areas and seeks to make progress. The first priority is to help patients to get a final diagnosis more quickly. On average, rare disease patients wait four years to receive a diagnosis, with some waiting over 20 years. For people with a rare condition, it is often a long journey, frequently with several misdiagnoses, until a final correct diagnosis is reached. Often this journey is labelled as the diagnostic odyssey. The framework describes what is already happening to improve diagnosis, but it does not talk about improving the screening service for people living with rare conditions. The UK National Screening Committee currently screens for just nine conditions using the heel-prick test. That compares poorly with many European countries: Italy and Iceland screen for more than 40, Poland and the Netherlands screen for more than 30, and Hungary, Slovakia and many others screen for more than 20 conditions.
Earlier this month, the National Institute for Health and Care Excellence approved access to a new gene therapy for spinal muscular atrophy. NICE said that for some babies who are diagnosed before they have symptoms, it might come close to being a cure. For it to have the chance to be a cure, however, we need to identify the babies before they begin to be affected by the condition. To do that, we need newborn screening for spinal muscular atrophy. We need joined-up thinking that allows a screening programme to be developed in parallel as such medicines come over the horizon. Will the Minister confirm whether we will increase the scope of newborn screening in the UK or make changes to the UK National Screening Committee’s processes?
The framework also talks about Genome UK and the NHS genomic medicine service helping patients to get a final diagnosis more quickly, but it does not talk about how patients will access such services. The framework recognises that people with non-genetic conditions needs to be diagnosed through other means. We will need an action plan that sets out a realistic way to improve this, and we will need to demonstrate that the system becomes better at diagnosing everyone, not just those who are found through genome sequencing. Can the Minister confirm that that will be done?
Moreover, the framework does not talk about what happens after a diagnosis is delivered. We cannot abandon people after we have given them their diagnosis. My final point on diagnosis is this: what about the people who are stuck on the diagnostic odyssey? Do we know how many people have been waiting for five, 10 or 20 years for a diagnosis from the NHS? Will we track such people? Will we monitor whether everyone is receiving equitably the tests to which they are entitled? Will the Minister please comment on that?
The second priority of the framework is to increase awareness among healthcare professionals of rare diseases. People affected by rare conditions meet many healthcare professionals on their journey to find a diagnosis, and beyond while they live with their rare condition. For some it is a positive experience; for others it can be particularly challenging. This year, Genetic Alliance UK received an inquiry from an individual whose GP had told them that they could not possibly have the genetic condition that they were concerned about, because it is just too rare. Any individual clinician cannot be expected to know about all rare conditions, but they can be empowered to understand how to handle such cases. The framework does not address in detail how it will increase awareness among healthcare professionals of rare diseases. It does not provide details of how education programmes will be delivered, nor does it explain in detail how success will be measured. What measurements will be put in place to ensure learning for healthcare professionals in the NHS? Will there be a survey of experience now and in the future, to demonstrate improvement? Will that be included in the English action plan?
When clinicians do not engage with an individual who has a rare condition in order to understand their diagnosis and ensure that care is compatible with their needs, it can and has led to life-threatening situations. One way to prevent such situations from occurring is by providing rare disease patients with alert cards, which include information about the patient’s rare disease and any particular aspects of the treatment of that rare disease that need to be taken into account in providing care. In January 2018, NHS England promised that all rare disease patients in England would have access to a rare disease alert card. May I request an update from the Minister on alert cards specifically? How many rare disease patients have been issued with an alert card?
The third priority of the framework is to improve co-ordination of care. Many patients have numerous professionals involved in their care and therefore it is essential that there be co-ordination and communication among healthcare professionals, their patient and the family. The framework does not address how care co-ordination can be mainstreamed within rare condition care in the NHS. There are no details as to how the challenges of ensuring continuity of care during the complex transition between rare condition services might be addressed. Again, how will success be measured? Will there be outcome measures demonstrating increased care co-ordination services in the NHS, and will there be a survey now and in the future to demonstrate improvement in the experience of people living with rare and genetic conditions?
The final priority of the framework is to improve access to specialist care, treatment and drugs. Only about 200 medicines are specifically available for rare conditions, and fewer than that are available on the NHS now. Small patient populations and accelerated market authorisation mean that rare disease medicines can rarely have sufficient evidence to meet the expectations of health technology assessors in the UK. Few life-saving treatments are reaching rare disease patients, which means not only that the UK is falling behind other European nations in terms of treatments available, but that patients and their families can be left in the dark, unsure of what is next.
We have extremely frustrating situations such as that faced by families affected by phenylketonuria, who, 12 years after marketing authorisation for the drug, are not receiving access to Kuvan, despite the Prime Minister’s promises to work on the issue and the treatment being available in 24 European countries. Again, the framework does not talk about how success will be measured. Will there be outcome measures demonstrating increased access to specialist care, treatments and medicines, and will there be a survey now? Will the Minister comment on that?
My final point is this. Understanding the experiences and preferences of people affected by rare conditions is fundamental to providing care and treatment and to ensuring that support, information and services are available and targeted to meet needs. The national conversation on rare diseases on which the UK rare diseases framework is based does not reflect the whole rare disease community. It is important that the English action plan is created in consultation with a more diverse and inclusive group, so that we can understand and meet the needs of all those affected by rare, genetic and undiagnosed conditions.
I want to finish by talking about something that happened yesterday. I want to mention Norman Clayton, who watched Prime Minister’s questions last week and heard me ask my question on access to Kuvan for those with PKU. Norman is 91 years old and was moved, after all these years, to contact NSPKU—the National Society for Phenylketonuria—and tell us about his daughter, Denise, who was born in 1958, before newborn screening, and whose PKU was diagnosed late. Despite the best efforts of Norman and his wife, Denise’s development suffered and she disappeared off the radar of the NHS. She still requires a huge amount of care, because her condition was not recognised from birth. That story speaks to so many rare diseases and to the need to get the implementation of this framework right.
Members of the APPG are always grateful for the support of our secretariat Muscular Dystrophy UK, medical professionals and those with muscle-wasting conditions. On their behalf, I ask the Minister to outline how the action plans for the framework will learn from patient and health professional experiences during the pandemic, and will also shape the priorities for accessing essential specialist care and mental health support.
This dietary treatment can also be incredibly costly for families, particularly if they are on a low income, which is a real barrier. The drug Kuvan, having been licensed to treat PKU back in 2008, has not been available to patients in the UK, except in limited circumstances.
NICE has published its preliminary assessment on the use of Kuvan, recommending its use for children up to the age of 18, which is welcome, but not necessarily its use for people over 18. I say to the Minister that this is a lifelong condition and therefore we need lifelong treatment of Kuvan on the NHS. Anything less than that will cause enormous distress for those young people with PKU who are making the transition to adulthood, so I urge the Government to consider placing Kuvan within the framework as a priority for the future.
I ask BioMarin and the Government to put people like Liam at the forefront of their decision making. People are being denied the quality of life that is possible and that they deserve.