Monday 6 December 2021
[Sir Roger Gale in the Chair]
Fibrodysplasia Ossificans Progressiva
Before we begin, I remind Members that they are expected to wear face coverings when not speaking in the debate. This is in line with current Government guidance and that of the House of Commons Commission. Members are asked by the House to take a covid lateral flow test twice a week if coming on to the estate, which can be done either at the testing centre, formerly the Members centre in Portcullis House, or at home. Please give one another and members of staff space when seated, and when entering and leaving the room.
I beg to move,
That this House has considered e-petition 590405, relating to research into Fibrodysplasia Ossificans Progressiva.
It is a pleasure to serve under your chairmanship, Sir Roger. The petition closed with 111,186 signatures, including 162 from my constituency. First, I thank the petition creators, the Bedford-Gay family, FOP Friends, Dr Alex Bullock and Dr Richard Keen, for meeting with my office to share their stories and experiences of, and expertise on, fibrodysplasia ossificans progressiva. I am incredibly grateful for their help preparing not only me but other right hon. and hon. Members for this debate. Many colleagues are keen to speak, not least my right hon. Friend the Member for Hemel Hempstead (Sir Mike Penning), who has been a champion for his constituents on this issue. I look forward to hearing his contribution. I will keep my comments brief to give others the opportunity to speak.
FOP is a very rare, genetic, degenerative condition that causes the body’s bone to develop in areas where normally it would not, progressively locking joints in place and making movement more difficult and, eventually, impossible. Those with the condition will eventually become 100% immobile, almost like a human statue, with a healthy mind locked inside a frozen body. It is one of the most debilitating and disabling conditions known to affect children in their early years, with no treatment, cure or prevention.
Once it progresses there is no way to reverse it, because trauma causes more activity. Something as small as a knock, a bump or a fall can trigger more bone growth. Likewise, the trauma of misdiagnosis and related medical treatments such as biopsies and injections can trigger bone growth. Even unrelated illnesses such as flu can trigger bone growth, so I can only imagine the stress and horror caused by the last two years of the covid-19 pandemic for families with children suffering from FOP. FOP does its worst damage in a child’s early years. While the condition will progress over time at different rates and no two individuals will have the same journey, most people with FOP are immobile by the age of 30.
The statistics and details of FOP are powerful, but not as powerful as the stories of those experiencing this condition. I am very grateful to the petition creators, Helen and Chris Bedford-Gay, for sharing Oliver’s story. When their son Oliver was three months old, he had what some medical professionals considered to be funny toes and a lump that began to appear on the back of his head. Oliver’s consultant concluded that the lump was not cancerous but should be removed none the less. Shortly after Oliver’s first birthday, the consultant diagnosed him with FOP. The family were led to believe that he would be fine as long as he avoided contact sports such as rugby. It was only later, when Oliver’s parents searched for more information, that they discovered the true implications of a diagnosis of FOP.
FOP results from a single gene mutation, which was discovered only in 2006, so there is very little information on or experience of this condition easily available to the public or medical professionals. With such a large barrier to access to relevant knowledge and guidance, the Bedford-Gay family were seemingly alone, with nowhere to turn for help and support. At that point there was just a small patient group but no dedicated UK charity to support families with FOP and fund research. That prompted the Bedford-Gay family to establish Friends of Oliver, now known as FOP Friends. In short, FOP Friends aims to further research into FOP and related conditions by supporting current and future research projects, to support families suffering from the condition and to raise awareness. Since the charity began, FOP Friends has raised more than £700,000 to help that work and has been able to work alongside the Royal National Orthopaedic Hospital, the FOP research team at the University of Oxford and other international FOP patient organisations in this fight. Since Oliver’s diagnosis, there have been leaps forward in research, awareness and treatment, thanks to those organisations. However, there remains so much more to be done, and it cannot be done alone. FOP Friends has three key asks of Government.
The first is to increase research funding into FOP. My right hon. Friend the Member for Hemel Hempstead will no doubt delve deeper into that topic, so I will not steal his thunder. However, I will say that the University of Oxford FOP research team, led by Dr Alex Bullock, has been investigating how the mutation that causes FOP is activated in patients and what might be able to prevent it from progressing, but that research receives no Government funding. The team’s research into a new drug that could treat FOP has been put on ice due to the covid-19 pandemic, and it is unlikely that external funding will be sourced to conclude this clinical trial.
As a rare condition that only impacts one in a million people, many consider there to be no commercial incentive to fund commercial research. However, because of the effects of FOP, research into it could help solve problems in unwanted bone growth, and conversely, how to encourage it in other major disease areas, including military injuries or surgeries, severe burns, osteoporosis or heart disease. FOP is just the tip of the iceberg of the research. Unfortunately, there is no mechanism for the Oxford team to obtain emergency funding for a clinical trial that is already under way. While the Government have pledged more than £6.6 million of funding via the National Institute for Health Research and UK Research and Innovation for more general bone disease research, there is some confusion about how this has or will be applied to FOP research. As I understand it, that funding has not been seen by the Oxford research team. I would be grateful if the Minister could shed some light on this issue and the potential mechanism for the team to access emergency research funding.
Secondly, the petitioners call for the Government to transform the standard of care that patients receive. The Government’s rare diseases policy, the UK Rare Diseases Framework, offers a vital opportunity to transform and improve standards of care for patients and families across the country. With only a handful of NHS clinicians with FOP experience, FOP patients receive varying levels of medical care and home support. I am aware that FOP Friends does amazing work assisting families in school settings with education, health and care plans. Carers of FOP patients are often parents or siblings as the specific needs of FOP patients can be tricky for others to understand or manage. Too often, the ability of those who suffer from FOP and their families to work, live and contribute to society is limited by the condition without wider institutional support. I would be grateful if the Minister could confirm and outline further how the UK Rare Diseases Framework could better support FOP patients and their families.
Thirdly, the petitioners call for the Government to help increase awareness of FOP and to transform diagnosis. As I mentioned, as it is a fairly newly discovered condition, there is a serious lack of knowledge and experience of FOP. Misdiagnosis and mistreatment, such as through biopsies and vaccinations and so on, can cause the condition to worsen and trigger irreversible bone growth. Early diagnosis is crucial not only to treat the condition but to prevent avoidable early progressions, which is why it is so important to raise awareness of FOP among medical practitioners. I understand that there have been calls to make the teaching of FOP mandatory in medical schools, so I would appreciate the Minister’s saying a few words on that.
A genetic test exists to confirm a diagnosis of FOP, but currently only specialist clinicians can request a test. An application has been made to include FOP as part of the roll-out of the NHS genomic medicine service, which is funded by NHS England, to allow a wide range of clinicians to request a test if they suspect FOP. I understand the directory of approved tests will be updated in April 2022, and I hope the Minister will enlighten us as to whether FOP will be included in that because that will increase access to genetic testing and reduce the time to diagnosis.
I want to once again pay tribute to Oliver and his family, as well as the many organisations, researchers, campaigners and other families who have worked tirelessly to fight FOP, many of whom I am sure we will hear about this afternoon. I appreciate that many other colleagues want to get in, especially my right hon. Friend the Member for Hemel Hempstead, who has a great degree of knowledge in this area, so I will bring my remarks to a close. I hope that we can have a productive debate on this issue and the key asks outlined by the petitioners.
It is a pleasure to serve under your chairmanship, Sir Roger, and a real honour to follow the hon. Member for Carshalton and Wallington (Elliot Colburn), whose speech was exemplary. I thank him for leading this e-petition debate and I thank those who secured it. To get more than 100,000 signatures for something so rare is incredible. I also thank the right hon. Member for Hemel Hempstead (Sir Mike Penning), who leads admirably on this subject across the House. He has my full support on anything going forward.
The right hon. Member heckles me: he will hold me to that, and so he should. He will not find me wanting.
It is a great honour to talk about FOP today. I am here on behalf of a young constituent, Oliver, who lives in my constituency of Wythenshawe and Sale East, with his brothers Leo and Harry and his mum and dad, Chris and Helen. I welcome Chris, who is here today in the Gallery, and thank him for taking the time to tell me about Oliver and how FOP has impacted their family life.
Oliver, who is now 14, was diagnosed with FOP in 2009. It impacts one in 2 million people. There are just 800 diagnosed cases in the world and only 50 in the UK. It is effectively a single letter that changes or mutates in the genome and over time results time in bone growth in muscles, ligaments and tendons. Usually, children are severely impacted by the time they are 10 years old. They are often contorted and immobile by the age of 20 and have an average life expectancy of around 40 years.
I have enjoyed hearing about Oliver and how he loves to read, play badminton and go to scouts, including to camp, where he slept in a hammock in the rain—not something I would do, but a mark of his extraordinary resilience. Oliver and his family really have shown resilience in the face of adversity, as do many families who suffer with the condition.
It is right for me also to pay tribute to the staff and pupils at Oliver’s school, Sale High in my constituency, who have given Oliver the opportunity to become more independent and to make friends on his own terms. They let him leave lessons shortly before the end of class—apart from history, where he insists on staying until the end because it is his favourite subject—so that he is not jostled in the corridor while moving from classroom to classroom. Those small adjustments give Oliver and his friends the opportunity to live as every 14-year-old should, with increasing independence and agency. May I place on record my personal thanks to Jayne O’Grady, who I know well as headteacher at Sale High School? She does a remarkable job, and I look forward to continuing to work with her to improve the fabric of that school, which is so desperately needed.
Oliver’s family and the wider FOP community have been phenomenal in their efforts to secure funding for FOP. The charity that they have set up, FOP Friends, is the only charity in the UK that focuses on research into the condition. It receives no Government funding at all. It is believed that advances in FOP research could have implications for more common bone conditions. If we know why bone forms in the way it does in FOP, researchers think that the same knowledge could be applied to people with limb damage and osteoporosis, and it could be helpful in cases of joint replacement. Developments made in FOP could eventually save the NHS money in care costs.
Although rare diseases are individually rare, within the population they are quite common, affecting one in 17 people at some point in their lifetime. The Government recognise the challenges faced by people affected by rare diseases, including ultra-rare conditions such as FOP, and in January 2020 they published the UK rare diseases framework, whose goal is,
“to help patients receive a final diagnosis faster”.
It also seeks to raise awareness of rare diseases among healthcare professionals. For example, there are only three doctors in the UK who have a specialist interest in FOP.
In summing up, I pay tribute to Oliver and ask if there is more that we can do to enable people like Oliver and others diagnosed with rare diseases in the UK to feel confident that we hear them and will support research into FOP, in line with the Government’s own framework.
I have served under your chairmanship for many years, Sir Roger, and it is a pleasure to do so again today. Many of us in this room are parents, grandparents or godparents to children. What is so amazing about the petition we are debating is how quickly over 100,000 people said, “We have to do something about this,” for such a rare condition. Petitions come and go, but we only have to look at the photographs to see what the condition does to human beings. We only have to Google FOP and look at the videos on Facebook and other sites to see the devastating effect it has on people’s life expectancies and on their loved ones.
For me, every child deserves the chance to have a childhood, but the condition—for all intents and purposes—removes that. It is a life-damaging, life-reducing condition that is so rare, as my colleagues have said, that very often when it is presented to top physicians and consultants with over 30 years of experience, they have never seen it before. In my constituents’ situation, when Alex and Dave first saw Lexi—they already had a lovely child, Ronnie, who is now three—they looked at the child, like we all do when we first see our grandchildren or children, and said, “There is something wrong.” When they said to the specialists that “There is something wrong with her feet”, they were told that she had bunions —she was a new-born child. Rightly, they questioned it. They questioned it and questioned it and, in the end, Lexi was probably the youngest child in this country to be diagnosed with FOP.
The family joined what is now FOP Friends, and that community has been formed to try to do two things. One thing is to understand how and why FOP progresses and how to stop that progression—I will come back to that in a second. The second thing is to try to understand for other parents how not to have a child with a genetic change at conception and to actually allow things to be addressed. That research is being done only in one place in the country, and that is Oxford University. It is purely funded by FOP Friends.
I have worked with colleagues in Pennsylvania and around the world on FOP, and we do not know how many children are born with FOP around the world. They are born with it; it happens at conception. We do not really know how many children are born with it, because in other parts of the world they do not even understand what FOP is. There is a really dynamic specialist in America, who has worked with families over many years. In America, there are groups that come together from all over America. I saw a video of them barn dancing together only the other day. Many of them are frozen in their skeletons. I circulated some photographs to colleagues earlier on. Those photographs—for anybody who has a heart—are heartbreaking. An eight-year-old child in one of those photographs has a deformity in her spine, which is frightening for the parents.
What we need to do, perhaps, is say this to the Government, from across the House and across society. The Government are doing wonderful work. Governments have done wonderful work, but this Government in particular are doing wonderful work in the area of rare diseases and conditions. But this disease is so rare that it falls out the bottom. How can it be right, in this day and age, that we have to fundraise? There was a wonderful fundraising event done by my local football club, Hemel Hempstead Town football club, to raise money for research. That research will benefit the NHS and, as was said earlier, will have knock-on effects for other conditions, on how bone structure grows and how it does not grow, on why it grows and where it grows.
As a result of this condition, there is a child, my constituent, who is probably never going to crawl. She will probably walk before she crawls. She is never going to have that experience. Her parents will never have the experience of saying, “Where has she gone?”, which we have all had with our children when they have been crawling away and exploring life, because her neck is now starting to freeze, at 10 months of age.
What I would say to the Minister is this. We can go into great detail, as my colleague and hon. Friend the Member for Carshalton and Wallington (Elliot Colburn) did, about the different types of research. We can go into the different reasons as to why we cannot do it. I am sure the Minister will turn round and say, “Well, I can’t give a blank cheque, so let’s see what the research can produce.” But until we know how much money we have for the research, we cannot actually say what can be done.
There is a small group of us in this Chamber today. My hon. Friend the Member for South West Hertfordshire (Mr Mohindra) could not be here with us this afternoon, but I know he wanted to be. However, I have spoken to lots of colleagues across the House, and we are not going to go away. Of course, much depends on what the Minister says. She may shock us all and write a blank cheque, although I fully understand why she probably will not. But we do need some progress. We need to say that these children are so important. It does not matter if there is one in a million or 500 in a million. These children’s lives and their futures are important, and we need some progress so that they can possibly see some light at the end of the rainbow.
These parents are doing everything they can for their loved ones. Is it not about time that the Government, and we in Parliament, did everything we can for these children? By the way, I think we probably need to fill the House of Commons main Chamber in a debate on this subject, because the more people hear about it, understand it, see the photographs, see the distress and see children who had their childhood robbed from them when they were conceived, the more chance we might have of getting the money in the two areas where we need the research.
Thank you, Sir Roger, for calling me to speak in this debate. I add my congratulations to the mover of the motion on the petition today, the hon. Member for Carshalton and Wallington (Elliot Colburn). I am grateful that we all have an opportunity to speak about this rare disease and how it affects some of our constituents.
It is absolutely amazing that we are actually having this debate, when we consider how rare this disease is. That says something about the temerity of and strength of feeling among those who are in FOP Friends, those who suffer from the condition and those in our society who are just genuinely concerned about it. This matter weighed so heavily upon them that it had to be brought to the House. When I consider that one in a million or one in 2 million may have this condition, it is amazing that they have been able to lobby, cajole, persuade and encourage people to sign this petition and get it to the Floor of the House. That fact should not just be left on its own. It should not be underestimated just how significant an effort has been made by so few. It is important.
My constituency has, I think, the largest petitioning group in Northern Ireland—658 petitioners—and across every constituency in Northern Ireland between 100 and 200 constituents did this, yet in Northern Ireland there are known to be only two cases. That says something about the power of lobbying, and it puts a great onus on Members of this House that our communities have felt so strongly that this matter has to be debated even though it affects a very small section of our society. That is what Parliament is about: helping the most vulnerable; helping those who are left behind and can be forgotten. It is absolutely certain that without this debate, FOP would hardly have been heard of. It would have been discussed among those who had a genuine interest in it, or a connection with someone who has the condition or with their family, but to debate it on the Floor of the House is incredibly important—indeed, it is a landmark, and it is important to say so.
Each Member who has spoken so far has mentioned an individual who they have known, and I have been contacted by Lucy Fretwell and Zoe, her sister, who both have this condition. It is incredibly rare that one sister would have this condition, but both do. They wrote to me to say that FOP
“only affects one in a million people. Unfortunately, FOP has affected my sister and I and we have been diagnosed with the disease. Zoe and I have been living with it for 30 years. We are the only two people in Northern Ireland that suffer from FOP.”
She was so concerned that this matter must be debated, and she implored Members to be in this debate, so it is a privilege for me to speak for Zoe and Lucy today.
Part of this debate is about the fact that we do not really know how many people have this condition. I have referred to the misdiagnoses that we have seen—we can google them. People have had amputations in other countries because they thought this condition was cancerous, and the amputation made it worse. If we had better diagnosis and better expertise and knowledge out there, I think the figures would be much higher in the province.
The right hon. Gentleman is absolutely right: it is only through awareness that we know this condition is probably much broader and deeper in our society. Those few who have been diagnosed are obviously encouraged and energised to write to us and lobby about it, but he is absolutely right that they are only the tip of the iceberg. Those people know about the condition, but many others do not. I for one do not believe that over 3,000 people from Northern Ireland petitioned us on this matter because of two people. There are many more across our society, but we have to look at the facts that are in front of us and relay them to the House.
I will make one other point in today’s debate, which is that the Government have a framework for dealing with rare diseases. That UK framework is critically important, because it commands the Government to do two things: help patients and increase awareness. Today, we are doing the second part of that. We are increasing awareness by having this debate and encouraging the Government to be more active and respond on these matters. Increasing awareness is vitally important, but when it comes to helping patients, no Member of this House can do anything about that. It is the Government who can do something about it by doing what these petitioners ask for: directing resources into research into this rare disease, making sure that that research not only is dedicated and focused, but hopefully leads to outcomes.
If there is any country in the world that should be proud of what medical research delivers, it has to be this nation. Look at what we have delivered over the past two years through targeted, effective research. If that is what we can do under emergency conditions, what more could we do if there were some targeted research and resources directed at this condition?
Like many others, I implore the Government to listen to the pleas of Lucy, Zoe and the many thousands of others who we are aware of. I encourage the Government to respond positively to this petition.
It is always a pleasure to serve under your chairmanship, Sir Roger. I, too, pay tribute to my hon. Friend the Member for Carshalton and Wallington (Elliot Colburn), my right hon. Friend the Member for Hemel Hempstead (Sir Mike Penning) and all colleagues who have spoken, because party politics comes nowhere near today’s debate. We are all here with one purpose, which is to raise awareness about fibrodysplasia ossificans progressiva, which I will refer to as FOP.
I am not aware that any of my constituents have the condition. However, 584 of my constituents signed the petition, and I took that as a direct instruction from my employers—that is what they are—to be here today. I suspect that it had something to do with my right hon. Friend the Member for Hemel Hempstead, one of my constituency neighbours, being so active on the issue.
Like my colleagues, I am very proud to live in a country in which 111,000 people signed a petition relating to 80 people—children, in the main—that we are aware of, although I absolutely take the point that there might be quite a few more cases that have not been correctly diagnosed. That is humbling. It is worth pausing on that for a moment. We are a nation of 67 million people. One might think that something that has affected only 80 people does not really matter, but it matters hugely. All those individuals matter as individuals. That is what we are talking about today.
Fibrodysplasia ossificans progressiva is a variable and progressive illness. It can lock a person’s jaw. It can make eating, talking and dental care extremely difficult. It can lead to breathing difficulties. I have looked at the photographs that my right hon. Friend the Member for Hemel Hempstead brought to the debate—for those who want to google them, they tell a powerful story.
I was interested to read about the palovarotene trial. I understand that there were 107 participants, which might not sound like a particularly large number. However, as we have said, FOP is a very rare disease, so it is significant. I understand that 62% of the people treated with palovarotene saw a reduction in new heterotopic ossification volume, which seems encouraging. I am not a clinician, so I do not know if that result is high enough to put the drug into widespread use. It certainly seems encouraging to me. I too pay tribute to the researchers at the University of Oxford. As we all know, they have done amazing work on vaccines for the pandemic this year. It is incredible that they are researching FOP as well.
I am pleased that our Government have a rare diseases framework, which was published this January. I read through it to prepare for this debate, and I want to say to the Minister and her Department that I think the framework’s aims are absolutely right. We have already spoken about the four priorities: helping patients get the right diagnosis faster; proper awareness of rare diseases among healthcare professionals; better co-ordination of care; and improving access to specialist care, treatment and drugs. Those all seem absolutely right.
There are five underpinning themes that go along with the framework, the first of which is patient voice. The second is national and international collaboration; we have already heard about the research at the Universities of Oxford and Pennsylvania, and I am sure that researchers from both universities talk to each other and follow each other’s work. There is digital, data and technology, which is so important for that knowledge flow to take place and for people to be aware of the latest research. There is wider policy alignment in how we look after people with FOP. Finally, there is the research that we have been talking about.
I am pleased that the National Institute of Health Research has funded eight studies in this area. However, I have heard that FOP Friends is also funding a great proportion of this research. I have a suggestion for the Minister. I know she will not be able to respond to it now, but I ask her to take it back to the Department and discuss it with the Secretary of State and officials. I understand from the research that I have done for the debate that FOP research would help not only its victims, but people with military and blast injuries, joint replacements, severe burns, sporting injuries, osteoporosis, heart disease, atherosclerosis and chronic anaemia. If we took the smallest proportion—maybe even 0.1%—of the funding for all research into other conditions and earmarked it for FOP, we would provide a significant additional pot of money for FOP research without severely affecting the research into those other conditions. That would be a legitimate transfer of funding, given the benefits that FOP research would have for those other medical conditions. I mention that for the Minister’s consideration. I do not know whether that is feasible, but it could be a short-term way of getting more FOP research when budgets are tight.
The point about medical schools is really important. I have a lot of sympathy for medical students, who have an awful lot to learn in their five or six years at medical school. The seriousness of FOP and the amount of misdiagnosis—we are hearing about amputations and cancer treatment, which, tragically, make FOP worse—show the importance of medical students and doctors of the future knowing about FOP, so that we can get those affected on to the right treatment pathway as soon as possible.
Let us look at whether a little funding from research into related areas could go towards FOP, and ensure that FOP is on the radar of medical schools so that the UK has more than three expert clinicians in the field. We will need to significantly increase that number if we are to do the right thing by the people affected.
It is a pleasure to serve under your chairmanship, Sir Roger. I thank the hon. Member for Carshalton and Wallington (Elliot Colburn) for leading this important debate. I am not aware that anyone from my constituency of Airdrie and Shotts has been diagnosed with FOP, but I thank everyone who signed the petition, including 104 people from my constituency.
I thank the hon. Member for Wythenshawe and Sale East (Mike Kane) for so clearly setting the scene. I echo his comments about more funding being required. I was heartened to hear that Oliver’s school is making appropriate changes to accommodate him. As a former teacher of social subjects, I am especially pleased to hear that history is one of his favourite subjects—that brings me great joy.
I completely agree with the right hon. Member for Hemel Hempstead (Sir Mike Penning), who said that FOP is incredibly rare and that it is indicative of democracy that so many people have signed the petition. I thank him for telling Lexi’s story and for all the work that he does to raise awareness of FOP.
As the hon. Member for North Antrim (Ian Paisley) said, the power of lobbying is so vital to democracy, so I welcome the fact that this rare disease has been brought to the House’s attention. He spoke powerfully about sisters Lucy and Zoe and how they are the only known cases in Northern Ireland. I echo his comments about the genuine concern that misdiagnosis could mean that the figures are higher than we think. I also thank the hon. Member for South West Bedfordshire (Andrew Selous), who spoke powerfully of the positive progress that has been made in tackling and raising awareness of this rare disease.
Let me take a moment to thank Chris for launching the petition. As has been said, Chris and his family created FOP Friends after his son, Oliver, was diagnosed with this rare disease. At the time of Oliver’s diagnosis, there was no charity in the UK that focused on supporting those with the disease. Since its creation, FOP Friends has helped to support those with FOP and their families, and to raise genuine, good public awareness about the need for medical research into the disease.
There is no known cure for FOP. The disease is caused by a mutation in a gene, a mutation that was only discovered some years ago. The rarity of the disease means that research in the United Kingdom has been limited, as has been stated already. Only the University of Oxford has a dedicated programme looking into FOP, with most of the funding for the research coming from donations from charities such as FOP Friends.
The right hon. Member is correct that all the funding comes from FOP Friends. I misread my notes, for which I apologise.
The lack of proper funding for research is holding back progress in finding a cure. Further progress can be made by improving the levels of potentially international co-operation in research into the disease.
The benefits of finding a cure for FOP are numerous. As was said by the hon. Member for South West Bedfordshire, those benefits might not just be limited to helping those with FOP. By improving our knowledge of what causes FOP and potentially finding a cure, the medical profession may gain invaluable insight to help it to combat more common health problems, such as osteoporosis, fractures and even battlefield injuries.
In January 2021, the UK rare diseases framework was released. It aims to improve the lives of those living with rare diseases, such as FOP, and it proposes a four-nation approach to support those living with a rare disease. That includes nation-specific action plans that aim to improve the effectiveness of combating rare diseases. It is hoped that the framework will help patients to receive quicker diagnosis, will increase awareness within the healthcare profession about spotting the signs of rare diseases, such as FOP, and will improve access to specialist care, treatment and drugs.
The Scottish Government understand the importance of the framework and are committed to implementing the 51 commitments outlined within it. They also welcome the progress that has been made in Scotland in delivering genomic medicine and in empowering patients through the UK’s rare diseases forum. Of course, still more can be done. Over the next two years the Scottish Government will continue to develop an action plan that works closely with the rare diseases community. The consultation will ensure that those with a rare disease, including FOP, are appropriately reflected in governmental policy. That will ensure that those with rare diseases have proper access to services in areas such as mental health and social care. The Scottish Government remain fully committed to ensuring that there is continual improvement in supplying patient-centric care that is safe and effective for those living with a rare disease.
To better detect rare diseases such as FOP, the Scottish Government have allocated an additional £4.3 million over the next two years to ensure that regular genetic testing includes tests for rare diseases. Improvements in genetic testing will help to increase the number of rare diseases picked up by these tests, allowing doctors to provide the correct support and treatment for patients. The Scottish Government are committed to doing what they can to improve the lives of those living with rare diseases, but they fully appreciate that more still can be done.
I appreciate that this is a devolved matter, but in many cases these children do not have two years. The hon. Lady has seen some of the photographs, so she knows the condition that will deteriorate further with these life-threatening diseases while the consultation goes on for two years. As I say, I appreciate the matter is devolved to Scotland, but as with England and Wales, Scotland has to say, “Two years is too long. Let’s sort it out now.”
I thank the right hon. Member for his contribution. I do not think that anyone would disagree that all Governments need to do more in tackling the problem. He spoke, very powerfully, of his constituent, and it is incredibly important that Ministers in all four nations are listening very clearly.
In conclusion, I hope that the Minister, and the Government, will agree that more funding is required to combat rare diseases such as FOP. I look forward to hearing her contribution. The petition has helped to raise awareness of an incredibly rare disease, and I again want to put on record my thanks to the family for bringing the issue to the Floor of the House and encouraging people to sign their petition. It highlights the need for action by Governments to combat rare diseases. I hope it is not too long until we find a cure for FOP, for Oliver and for loads of other children like him across the four nations.
It is a pleasure to serve under your chairmanship, Sir Roger. I thank the hon. Member for Carshalton and Wallington (Elliot Colburn) for introducing the debate on behalf of the Petitions Committee. As we have heard, despite fibrodysplasia ossificans progressiva—or FOP—being an ultra-rare disease affecting only one in a million, more than 111,000 people have signed the petition, including 162 people from the hon. Member’s constituency and 108 from my own, showing the high level of public support for the issue.
I pay tribute to the contribution from the right hon. Member for Hemel Hempstead (Sir Mike Penning), whose constituent, Lexi, has recently been diagnosed with FOP, and to Lexi’s mother, Alex, and father, Dave, who have been instrumental in the petition’s success while also raising awareness and money for research themselves. I was pleased to see that there were signatures from across the country, but the support from Hemel Hempstead massively outweighed that from anywhere else, evidencing the incredible drive and leadership shown on Lexi’s behalf. Again, I pay tribute to the right hon. Member. He and colleagues who have spoken today have all highlighted the issues around the lack of funding and the need to raise awareness.
We have heard lots of excellent contributions, so I also pay tribute to my hon. Friend the Member for Wythenshawe and Sale East (Mike Kane) and the hon. Members for North Antrim (Ian Paisley) and for South West Bedfordshire (Andrew Selous) for highlighting their constituents’ cases and the issues around funding and the lack of awareness. It is incredibly shocking that the only source of funding for research into the disease is from FOP Friends, so I also recognise, and thank it, for the work it has done.
As we have heard, FOP comes from mutation of the ACVR1 gene, causing muscles, tendons and ligaments to convert to unwanted bone growth, starting from a very young age. It debilitates and disables, before progressing to cause immobility and ultimately death. While progress happens at different rates, both naturally and because of the trauma it induces, most people with FOP are immobile by the age of 30.
The hon. Lady has touched on an enormously important point that I did not mention in my comments. Lots of people think this is all about trauma—that it is all about bruising or impact—but for a lot of people with this terrible condition, there is no logic. There is no trauma; it just develops and goes through. We have the two sides of it. Trauma, yes, and that is where the research into this particular condition is so important.
I absolutely agree. There is a need for investment into research of all aspects of this illness. Life expectancy for people with FOP is, on average, 40 years, which is absolutely shocking. It is a horrible condition that nobody would wish on their worst enemy. It is clear that we all agree on the need to act to improve outcomes for the approximately 70 people in the UK who we know of who are suffering as well as for everyone living with it across the world. Thankfully, we know that action can be effective, both in diagnosis and care.
The average age at diagnosis is eight years old, despite the existence of genetic tests to confirm diagnoses and other signs that occur far earlier than that. Usually, the benefits of early diagnosis are common sense—it is just a matter of time, and time spent untreated is time in which a disease or condition can worsen. However, FOP is different. As I and other Members mentioned, trauma generates FOP activity, worsening the condition and speeding up its progress. Any time spent undiagnosed is time when trauma can occur unknowingly, not least in young children, who are not particularly robust or careful; I have a seven-month-old myself, so I know it is really difficult to prevent little babies from moving around. We do not need to stretch our minds to imagine the accidental trauma that could take place in a child with FOP up to the age of eight.
In the first instance, early diagnosis avoids the need for investigative diagnostic procedures that can themselves trigger irreversible FOP activity in an individual, and it does not stop there. Early diagnosis means other adaptations can be made at home and school, and my hon. Friend the Member for Wythenshawe and Sale East spoke of the adaptations made in school for Oliver. It means that alternatives can be used to potentially damaging immunisations, usually injected into muscle; knowledgeable clinical care can be established; and of course, simple behavioural changes can be made to avoid unnecessary trauma in these individuals. Those simple things can make a tremendous difference, yet the genetic test that can make that happen can be requested only by specialist clinicians, of which there are not many. Given how few people suffer from FOP, the likelihood of that request happening prior to diagnosis seems monumentally low, let alone its happening an optimal time. The directory of approved tests for the NHS genomic medicine service will be updated next April, and we heard hon. Members call for the Government to ensure that the FOP test is included. I hope to hear the Minister commit to heed those calls.
I also urge the Minister to explore other avenues, such as technology to improve doctors’ awareness of symptoms or new born genetic screening, which will have impacts far beyond FOP and could help many of the one in 17 people who live with a rare condition. The Government have already set out their vision for this in the UK rare diseases framework, so I do not think anything new is being asked for today—simply for them to follow through on their promises.
Just as with diagnosis, it is often the case that the most difference can be made to rare diseases by improving standards of care. For those living with FOP, that can also be transformative. With so few specialists or experienced clinicians, it is no surprise that levels of care vary, but that does not mean that the status quo has to be maintained. The nature of FOP means that some activity needs urgent action, and of course, specialist assistance is needed throughout. The UK rare diseases framework offers an opportunity here, too. I am keen to hear from the Minister the Government’s plans to improve care for those with FOP universally through that mechanism and to ensure that all those living with FOP now and in the future get the care that they need.
My final point is a broader one that applies to rare diseases in general. We have many of these debates, and quite rightly, because every person who lives with a rare disease has a different experience. Collectively, rare diseases affect as many as 3.5 million people across the UK. Although individual approaches are needed, a collective approach is also important. I welcomed the publication of the UK rare diseases framework, because not only can collective action help to improve standards of diagnosis, treatment and care, but individual approaches can help others. For example, as we have heard, increased research into FOP could help joint replacements, military injuries, burns, sporting injuries, osteoporosis, heart disease, chronic anaemia, and even brain cancers. That principle will apply across the rare diseases spectrum. It is disappointing that after the rare disease framework was published, the then public health Minister confirmed that no new funding had been allocated. My ask of the Minister, and my question to the Government, is simple: how will the Minister deliver on the priorities that the Government set out in that framework?
I thank my hon. Friend the Member for Carshalton and Wallington (Elliot Colburn) for leading us in this debate. It is incredible that a condition that affects fewer than 100 people across the UK has generated so much support, and that is testament to everyone involved. I particularly pay tribute to my right hon. Friend the Member for Hemel Hempstead (Sir Mike Penning) for always putting his weight behind the campaign, and for sharing the experience of his constituent, Lexi, and the impact that this condition has on her life and that of her family. I also thank the campaigners, and their FOP friends, for their important work in this space, as well as all those across the United Kingdom who are affected. We heard the story of Oliver from the hon. Member for Wythenshawe and Sale East (Mike Kane), and it is through such stories that we learn about the full impact of this disease. This is not just a condition that young children have to live with, because there are ordinary day-to-day things that they can no longer do, and that may worsen their condition or shorten their life expectancy.
We heard from the hon. Member for North Antrim (Ian Paisley) about Zoe and Lucy—the two people we know of in Northern Ireland who have this condition. If nothing else, this debate has highlighted and raised awareness of the condition, and there may be parents out there whose children have similar symptoms and who might now think about pushing for investigations to see whether they are affected. It is important that rare diseases such as FOP get the attention and resources that other more common conditions routinely receive. Although rare diseases, by their very nature, are rare, today we have heard that collectively one in 17 people will be affected by a rare disease at some point in their lifetime. That amounts to 3.5 million people in the UK.
The Government have recognised the issues and challenges faced by people with rare diseases such as FOP. For too long such diseases have been the Cinderella of conditions, and resources have traditionally been targeted to those most affected by other conditions. This Government are the first to change that and to raise the profile of rare diseases, in terms not just of awareness, but also of resources.
As we have heard, FOP is a rare genetic condition when abnormal bone development occurs where bone should not normally grow. It has the most debilitating effects, whether reducing mobility or even leading to respiratory or heart failure. The tragic situation is that although some medication can treat some of the symptoms, there is no effective treatment for the disease, and certainly no cure. We have heard about the effect that the condition has on life expectancy for some of the youngest people in our society. We are not 100% sure of the causes of FOP, because although a genetic mutation happens, we do not know whether it is a hereditary condition. In some cases it is hereditary, but in many it happens spontaneously. There is a huge amount of research that needs to be done, not just on curative treatment, but on understanding the cause. That is what the petitioners have called for today—research into that area. It is frustrating with rare diseases that, in any clinical research, the more people who are affected, the quicker the results are.
I think it is important that I correct the Minister’s point. There is no evidence at all that this is hereditary. The gene is affected at conception. That has been researched, and we know that gene testing can happen. For the record, can we please make clear that this is not a hereditary condition?
I was pretty clear that it happens spontaneously in the cases that we know of. It is a genetic condition, but not necessarily hereditary.
Finding quick answers to research questions requires a large number of people to be involved. The frustrating thing with rare diseases is that they affect so few people that, even if there was a wealth of research, the low numbers mean that research results are often frustratingly slow. That is no one’s fault; it is the nature of rare diseases. That is why the Government have brought in the rare diseases framework. We want to pool resources to bring research into many rare diseases forward.
The Government are committed to increasing spending on research by 2026-27 by £22 billion, moving further on our target of having 2.4% of our GDP in research and development by 2027. We recognise that research is the answer to most of the questions that have been asked today, and we are significantly increasing funding for it. Members of all parties raised the UK rare diseases framework, which is central to our ambition and was launched in January, setting, for the first time ever, four main ambitions for rare diseases.
The first ambition is to get a faster diagnosis. We have heard how important that is for FOP. The longer children have symptoms that are not diagnosed as FOP, the more likely they are to come to harm. Playing in the playground or even coming into contact with people who have colds or the flu can make their condition significantly worse. Getting a faster diagnosis is crucial.
The second ambition to increase awareness among healthcare professionals is crucial. Even something as innocent as doing a biopsy to try and find out the cause can have negative effects. As a nurse of 25 years, I have never come across a case of FOP. I am sure there are many GPs and hospital doctors who will be in the same position. Increasing awareness is crucial.
The third ambition is the better co-ordination of care. There should be a treatment pathway that should be followed by anyone affected by this condition or any rare disease. For me, what is most crucial and will be of the most benefit to parents and those affected by the disease is our fourth ambition: improving access to specialist care, treatment and drugs. We have heard today that there are only three specialists dealing with this condition. It is important to support those who specialise in this. They are the ones who will be asking the valid research questions and who will be able to undertake the research. For me, that ambition is crucial.
Alongside industry, medical research charities and specialists, the Government are funding research into rare conditions such as FOP via the National Institute for Health Research and UK Research and Innovation. The Department of Health and Social Care is investing over £1 billion every year to fund and enable research. I am concerned to hear that campaigners and FOP Friends are not finding that the specialist centres can access that funding. In the past five years, the NIHR has funded one study into FOP at its biomedical research centre, which has specifically looked at the potential for repurposing saracatinib, an ovarian cancer drug, to see whether it will work with this condition.
Seven other studies relevant to FOP are also being funded. If those working in this field are not able to access funding for their research projects, the Clinical Research Network offers a flexible package of free support to help plan, place and successfully deliver clinical research in any field of rare diseases. I am happy to meet campaigners and specialists if they are not getting access to that support, because it is available to them.
The Minister has taken the words right out of my mouth. Will she and specialist civil servants in her Department meet the campaigners? Not a huge group—just a few people to come together to work out how they can get access and make a successful bid so that the children can get the help that they need?
Absolutely. I would be very happy to do that. Part of this will probably be the co-ordination of what funding, help and support there is for researchers, and then bringing the researchers together.
I reassure those who signed the petition that the NIHR does not ringfence funds for research. The fund is open to everyone, whether they have one of the most common diseases in the country or one of the rarest. The £1 billion research fund is available to all, and funding applications are available for any aspect of human health. When applications come forward, they are subject to peer review, so research colleagues look at it and judge it, with awards being made on the basis of clinical need—clearly, today we have heard of a clinical need that exists—the value to healthcare services, value for money and scientific quality, so there is no barrier to people applying for the funding.
Since 2010, the Medical Research Council has contributed funding to three projects underpinning relevance to FOP and underlying conditions as well—a total of £6.6 million. Outside those studies, UKRI and NIHR have also looked at supporting musculoskeletal health, which, although not directly FOP-specific, will have relevance to that condition.
I just want to take the Minister back to a point she made a moment ago about the trials for new drugs being limited to a very small number of people because FOP is a rare disease. I wonder what the solution to that is. Do we try to get people with FOP all the way around the world to participate in a trial? I am not sure how many people would be needed for a trial for it to be validated by the Minister’s Department. There were 107 in the trial that I mentioned, which I presume is too small. I wonder how we overcome that when in each individual country there are only a very small number of people to do the trials on.
Absolutely. Just to be clear, it is not the Government who would validate the trials; it would be the scientific community. If it is drug-related, the Medicines and Healthcare products Regulatory Agency would go on to change licences if it found a treatment that was applicable to FOP. In many conditions with such low numbers, often there are global studies, and the funding would not be restricted to a UK-based study. If it was part of a global study, I am sure that that would be acceptable. That is why it would be helpful to meet so that the support and mentorship available to researchers who are thinking of applying for funding could bottom out some of those issues.
I want to reassure colleagues who raised concerns that rare diseases are being pushed up the agenda. The rare diseases framework that was published in January is the first of its kind, and should reassure parents and children with FOP that this is an absolute priority. For too long, rare diseases, because numbers are low, have not had the significance, priority and attention that more common diseases with lots of campaigners and patients have had. The framework will push this to the top of the agenda.
The second reassurance I can give is that funding is available; there is £1 billion per year for clinical research across the board. Just because it is a rare disease does not exclude FOP from these funds. From a practical point of view, it does make research harder, as my hon. Friend the Member for South West Bedfordshire (Andrew Selous) highlighted. However, this does not mean that FOP researchers cannot apply for these funds; there are other criteria that are applied to low-volume scenarios.
Thirdly, I want to reassure Members that clinical research is happening. There are one or two studies that have taken off in this area; often that is the catalyst that needs to happen. I am hearing from colleagues across the House, who have constituents who are affected, that there is a desire to do more research. Very often, this desire is what is needed more than anything to find the researchers who want to do the research and have research questions—whether those are about diagnosis, treatment, or, ultimately, a cure. The funding is there to help support that, and there is practical help and support to bring those studies to fruition. Let me reassure colleagues that, as the Minister, I believe that research is the answer to many of the questions that have been asked today. I am very aware of how distressing this condition is, and the impact that it has on both the quantity and quality of a young person’s life. The Government are committed to ensuring that all rare diseases get better access to the resources that are there. With particular regard to FOP, I am sure that we can work with colleagues across the House to deliver answers to some of the questions they have asked today.
I thank colleagues for their contributions today. I feel that the debate has demonstrated the House at its best. We have heard some really powerful contributions. It was a pleasure to hear more about Oliver’s story and life from the hon. Member for Wythenshawe and Sale East (Mike Kane). I express my thanks to him for bringing that to the debate. My right hon. Friend the Member for Hemel Hempstead (Sir Mike Penning) has been a real champion of this issue for so many years; we are truly privileged to be party to his expertise and knowledge in this area—I thank him.
I would be more than happy to. I thank the hon. Member for North Antrim (Ian Paisley) for telling us Zoe and Lucy’s story—the only two known cases in Northern Ireland. That demonstrates that this is a UK-wide issue, and I echo the comments of the SNP spokesperson, the hon. Member for Airdrie and Shotts (Ms Qaisar), about how incredibly important a four-nation approach is. I am also grateful to my hon. Friend the Member for South West Bedfordshire (Andrew Selous) for talking us through some of the issues around research; some of the suggestions he made about research funding are worth exploring—I do hope that these can be taken away.
It is incredible that, given the rarity of this disease, we have reached the point where over 100,000 people have signed a petition to bring us here. It demonstrates the power of the petition system; it is humbling, as a member of the Petitions Committee, to see a campaign like this take off. I really think that this is only the beginning. There was a lot of reassuring stuff in the Minister’s reply. I am particularly happy with the offer to facilitate a meeting with campaigners and researchers; I do not think it is too bold of me to suggest that the Petitions Committee will be happy to help facilitate and co-ordinate that. As a Committee, we will keep a keen interest in the progress of this campaign.
I finish by thanking the petitioners, in particular the families of those living with FOP, who are the ones who have brought us here this afternoon. It must be incredibly difficult to have to reiterate these stories over and over again—how upsetting that must be. I would like to thank Chris, who is in the Public Gallery, for his attendance. Once again, I thank colleagues for being here to kick off what I am sure is the first of many discussions that we will have on this issue.
Question put and agreed to.
That this House has considered e-petition 590405, relating to research into Fibrodysplasia Ossificans Progressiva.