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Pompe Disease

Volume 630: debated on Tuesday 31 October 2017

Motion made, and Question proposed, That this House do now adjourn.—(Rebecca Harris.)

I am delighted to have secured this debate to raise awareness of the very rare condition known as Pompe disease. I hope that the very holding of this debate will contribute to that, and I look forward to the Minister’s response, and hope that he will set out some constructive suggestions on what we will do going forward to deepen knowledge and understanding of this awful disease.

My journey towards an involvement with Pompe disease and securing this debate began when I was visited in my constituency surgery by my constituent John Foxwell. He is a polymath. He is an award-winning author and publisher, specialising in communication technology. He worked for his community, too. He lives in my constituency at present, but he previously lived in Devon where he was both an elected councillor and served as mayor, and was also a trustee and director of his local food bank.

Drawing widely on his experience as a teacher and headteacher, John Foxwell has contributed to UK Government policy over the past 20 years. He has managed national educational projects including the first education action zone and the Building Schools for the Future project, and contributed to education White Papers. His reports on education have been drawn on by international companies. Prior to that, he worked in buying and merchandising for a multinational cycle and auto retailer. Knowing the importance of communication, he also founded companies that assisted those who come to the UK from other countries, developing translation tools and assisting community cohesion.

Now, however, John Foxwell has had to leave that remarkable career behind him. He has to spend up to 15 hours a day on a mechanical ventilator to enable him to breathe, as his diaphragm is paralysed. He cannot walk far, or lift or bend or lie flat—if he did, he would struggle to breathe—and he falls easily. A common cold could cause him to go into respiratory failure and die. His life expectancy is significantly reduced. His wife has had to give up her own job to look after him. She is one of an army of carers across the country whose work needs to be recognised right across the House.

John Foxwell is one of only about 150 people in the UK who have Pompe disease. The condition is named after a Dutch medic called Joannes Cassianus Pompe. Given that he was Dutch, his surname was probably pronounced “Pompa”, but the disease has become known as “Pompey” disease. He was born in Utrecht in September 1901, and later studied medicine at the city’s university. His breakthrough came in December 1930, when he carried out a post-mortem on a baby girl who had died at the age of just seven months. He discovered that her heart had become enlarged and that the muscle tissue in the heart had become like a mesh. He thought that a substance build-up was causing that to happen to the heart muscle and came to the conclusion that that substance was glycogen. In other words, the sugar strings that store energy in cells had not broken down as they should have done, due to a faulty gene inherited from the little girl’s parents.

Dr Pompe became a pathologist at the Hospital of Our Lady in Amsterdam in June 1939, and after the German invasion of the low countries in the second world war, he became a part of the Dutch resistance. He was involved in finding places for Jewish people to hide from Nazi persecution. His laboratory at the hospital housed a radio transmitter that was used to send messages from the Dutch resistance to the United Kingdom. He was eventually arrested by the Nazis in February 1945, after the transmitter was detected. On 15 April 1945, he was executed as part of a reprisal for the Dutch resistance blowing up a railway bridge. The discoverer of this disease seems to have been a very brave man indeed.

Dr Pompe had discovered what came to be known as the first category of the disease, the infantile variety that presents in small babies who fail to thrive, and that often leads to death from heart failure in the first year of life. Life expectancy in those case is, alas, less than two years. The second category is “late onset” where, as the name suggests, symptoms do not become apparent until later on in life. As is the case with my constituent John Foxwell, progression is generally slower, but it is characterised by skeletal muscle wasting that causes mobility issues and breathing problems.

Those who suffer from the disease receive support from Muscular Dystrophy UK—I put on the record my thanks to it for sending a briefing in advance of this debate—and the Association for Glycogen Storage Disease (UK), which also provides support to sufferers here. The standard treatment for Pompe disease is enzyme replacement therapy. The faulty gene that is inherited from sufferers’ parents stops the creation of an enzyme called acid alpha-glucosidase—I will refer to it as GAA from here on—that breaks down the sugar strings of energy in muscle cells. The enzyme replacement therapy involves a genetically engineered enzyme that assists with regulating glycogen—the sugar strings— and is received into the body by regular infusions. The trade name for the enzyme is Myozyme, which is available from the pharmaceutical company Sanofi Genzyme.

The availability of Myozyme differs slightly around the country. In England, it is directly commissioned by NHS England under specialised criteria. In Wales, where my constituent lives, the All Wales Medicines Strategy Group recommended to the Welsh Government that Myozyme should be endorsed within the NHS in Wales for the treatment of Pompe disease, but there is a specific restriction in that it is not endorsed for late-onset Pompe disease on grounds of insufficient evidence of clinical effectiveness.

I congratulate the hon. Gentleman on presenting such a wonderful account of the gentleman involved in the history of the disease. Like others, I have been contacted by Muscular Dystrophy UK, and rare diseases come up here often and are a particular interest of mine. This is ultimately a question for the Minister, but does the hon. Gentleman agree that the Department of Health must ensure that there is adequate support for the centres across the UK that provide highly specialised care for patients with this rare muscle-wasting disease? I think the Minister will respond to that, but the hon. Gentleman’s speech encapsulates what we are all trying to achieve here.

I am grateful to the hon. Gentleman. I entirely agree that support for the different centres across the country is absolutely vital. While we all know that health is a devolved matter, awareness is so important and is something that we can still promote across the United Kingdom.

My constituent’s particular issue with accessing treatment is that he falls into a category that does not have general commissioning for late-onset Pompe disease, meaning that he would be left having to make an individual funding request, only some of which are successful. However, the reality is that nobody has a chance of accessing the treatment if the disease is not diagnosed in the first place, which was the real challenge facing John Foxwell. His diagnosis took over seven years. Many consultants told him that his diaphragm was paralysed—that was pretty obvious—but they made no link to the disease that was causing the paralysis. John went through some incredibly difficult periods of low appetite, when he was living only on jelly and milkshakes. Unable to function and to continue with the wonderful career that I described, he moved back to Wales, where he was originally from, to die.

Then the diagnostic break came. Nevill Hall Hospital, Abergavenny, is in the constituency of the hon. Member for Monmouth (David T. C. Davies), but none the less it serves a number of my constituents in Torfaen. A respiratory consultant at the hospital gave my constituent a mechanical respirator, which helped him significantly. In addition, he was advised to see a neurologist, who conducted a series of tests, including a genetic test that finally identified late-onset Pompe disease.

Pompe disease is incredibly complex, and it requires a multi-disciplinary approach. The medical disciplines required include geneticists, pulmonologists, neurologists, cardiologists, respiratory therapists, physiotherapists, dieticians and clinical psychologists. Conditions that cross the medical disciplines in that way are, of course, a challenge for our NHS across the country, but it is a challenge that we can and must meet.

I will conclude with an email that my constituent sent to me, which shows where he is at the moment:

“Now I am almost a recluse as I find that leaving the house is extremely challenging. I don’t know the future, but I do know, from statistical testing in other countries, that there are many more people with Pompe Disease out there that are needing to be diagnosed and that I want to be able to assist…in understanding the disease and supporting them when they need help. I am creating Pompe Wales, a Pompe Disease specific charity, to be able to help others who have Pompe, to be able to make the medical professionals aware of Pompe and its symptoms and to link with other Pompe organisations around the world”.

That shows that those who suffer from the disease, named after Dr Pompe, share characteristics with him—they are determined and courageous. But, for them to be able to fight this disease, it must first be identified. The only way to do that is to raise awareness across the medical professions. Nobody should suffer unduly because of falling victim to a disease that is extraordinarily rare.

I congratulate the hon. Member for Torfaen (Nick Thomas-Symonds) on securing this debate. I often think this about Adjournment debates, but this shows how excellent the House of Commons is in that it can debate a Finance Bill and then discuss a condition like Pompe disease.

I read the hon. Gentleman’s article in The Times this morning. The article was well written, and it set out very clearly the heart-breaking impact that this disease has had on his constituent’s health. I am sure his constituent appreciates very much the way he has taken up the issue. Well done for getting an article in The Times!

I hope my response will go some way to reassuring the hon. Gentleman and his constituent that the importance of understanding how to recognise and treat rare diseases such as Pompe disease is increasingly recognised by policy makers and healthcare service providers, not just in England but across the UK and internationally.

The hon. Gentleman spoke movingly about the subject, and he is of course right to praise the army of carers in our country. Carers Week is a big deal in my constituency, as I am sure it is in his, and he is absolutely right to praise the work of Muscular Dystrophy UK. When I was a Back-Bench MP, I was a member of the all-party parliamentary group on muscular dystrophy, which was chaired by a now former Member. Having grown up with friends who suffered with muscular dystrophy, and who ultimately lost their fight, I have a lot of time and respect for Muscular Dystrophy UK.

The number of rare disease patients can be very small. For example, Pompe disease has an estimated prevalence of one in every 40,000 births, but collectively some 3.5 million people in the UK alone are affected by what we term, in policy terms, rare diseases. To put this in context, one in 17 people will therefore suffer from a rare disease at some point in their lives. As we have heard, patients with Pompe disease are deficient in or completely lacking the activity of an enzyme that affects the ability of cells to degrade glycogen, causing its build-up in the body cells, which impairs their ability to function normally. Pompe disease often affects neonates—newborn children—and becomes apparent from within a few days to a few months after they have been born. Sadly, affected infants often require long periods in paediatric intensive care units, with many going on to require long-term mechanical ventilation, as the hon. Gentleman said.

I thank the Minister for that positive introduction to his speech. One issue that my constituent raised with me was that because this disease is genetic it can be picked up by a blood test from birth. He has asked whether such testing could be done on a more regular basis. I understand that this is difficult because the disease is so extraordinarily rare, but I flag it up for the Minister’s attention.

The hon. Gentleman makes a good point, and I know my officials will be listening carefully to what he says. I may come to touch on that point, if I do not deal with it specifically, but I am sure he will remind me.

Some patients with Pompe disease are treated with an enzyme replacement therapy called Myozyme, which is a direct replacement of the missing enzyme via infusion therapy. Myozyme dramatically alters the natural history of the disease in infants, but many patients still require complex long-term follow-up, as the hon. Gentleman’s constituent does.

NHS England commissions its service for patients with Pompe disease from eight national centres; five of these are for adults and three are for children. The centres provide an inclusive, holistic, multi-disciplinary service—the point the hon. Gentleman rightly makes—for patients with lysosomal storage disorders. That is the wider term for these conditions, including Pompe disease. The centres provide rapid diagnosis, an assessment of disease burden, provision of disease-specific therapy, advice on symptom control and palliative care, where this is, sadly, necessary for patients with untreatable disorders. In conjunction with patient advocacy groups, the centres also provide support for affected families. We of course support these centres utterly—that point was put on the record so well, as usual, by the hon. Member for Strangford (Jim Shannon).

As the hon. Member for Torfaen says, late-onset Pompe disease may not become apparent until later in childhood, adolescence or most commonly, as in the case of his constituent, Mr Foxwell, in adulthood. Although late-onset Pompe disease is usually milder than the infant forms of the condition, patients can experience progressive muscle weakness in the legs and trunk—the main body—and it can affect the muscles that control breathing, which is why the mechanical ventilation becomes necessary. As we have heard, as the condition progresses, breathing problems can become more serious and often prove fatal.

We know more can be done to diagnose rare conditions earlier. Currently, the average rare-disease patient consults five doctors, can receive up to three misdiagnoses and waits four years before receiving their final diagnosis. These delays in diagnosis often mean that opportunities for timely interventions can be missed and/or that patients may be given unsuitable or harmful treatments to treat their misdiagnosed condition; more than half of patients wait for more than one year after the first symptoms and some have waited over 20 years. Although not a great term, I am reliably informed that this is called a “diagnostic odyssey”, which causes uncertainty and distress for those affected, as well as considerable costs for health and social care budgets. We should remember that.

The 100,000 Genomes Project—

I was going to touch on that project, but before I do I shall give way to the hon. Gentleman again.

I am grateful to the Minister for giving way again. Before he moves on to the genomes project, I just wanted to touch on the issue of the diagnostic odyssey. My constituent’s diagnostic odyssey was seven years, and clearly although the symptoms, particularly the issue involving the diaphragm, were very apparent and were picked up, this was about making the link from there to the rare disease. Clearly, one always has to take into account statistical probabilities—there is no direct criticism of any medic or anything like that here—but part of trying to reduce that diagnostic time must be about increasing awareness among the medical profession of many of these rare diseases.

Yes, I absolutely agree. I also have ministerial responsibility for cancer—if only I had a pound for every time I heard early diagnosis mentioned in the office. I shall explain how I think the rare diseases strategy can help with that. Of course, it is important not just for rare diseases, but what the hon. Gentleman says is absolutely right.

The 100,000 Genomes Project addresses parts of the unmet diagnostic need I have described. It focuses on patients with a rare disease and their families and on patients with cancer. The sequencing of an individual’s genome is increasingly utilised as a diagnostic tool in cases where an individual has unrecognised signs and symptoms and to support the diagnosis of a rare disease. I am pleased to say that around 25% of patients whose genome is sequenced through the project now receive a diagnosis for the first time. In addition, despite their often chronic and progressive nature, the associated long-term complications of some rare diseases can be targeted and addressed early if they are diagnosed as such. That is clearly the holy grail. The UK rare diseases policy board has been tasked with looking at the diagnostic issues—the odyssey that I mentioned—and I look forward to it reporting its initial findings to me. I am told that they will come in early 2018, so I shall look out for them.

I assure the hon. Gentleman that the Government are and remain dedicated to improving the lives of all patients with rare diseases. The publication of the UK strategy for rare diseases in 2013 represented a significant milestone for all patients with rare diseases, and it is now being implemented throughout the country. The strategy set out our strategic vision and contains 51 commitments, concentrating on raising awareness, better diagnosis, which has been touched on, and patient care. It also has a strong emphasis on the importance of research in our quest to better understand and treat rare diseases. Research is so important. The Government are committed to implementing the strategy in full by 2020, and we know that the real test of success will be when patients and families affected by rare diseases experience real improvements.

The Minister of State, Department of Health, my hon. Friend the Member for Ludlow (Mr Dunne), announced in a 28 March Westminster Hall debate on the implementation of the strategy that NHS England will produce an implementation plan for the commitments in the strategy that it has lead responsibility for, and I shall hold NHS England to account ministerially. The Department of Health is now working collaboratively across stakeholders to produce the implementation plan for all those commitments that fall outside NHS England’s remit. Both NHS England and the Department are aligning the publication of those complementary plans, and I want them on my desk by the end of the year.

We appreciate the fact that any specific rare disease is, by its nature, very rare, so we should be honest about the fact that there is often a scarcity of patients and expertise in any single country. The diagnosis, treatment and management of rare diseases strongly benefit from cross-border collaboration. Through an EU initiative on patients’ rights in cross-border healthcare, European reference networks were set up throughout European countries earlier this year. These virtual networks act as centres of knowledge, skills and expertise in the field of rare diseases and complex conditions, and provide a platform to create partnerships between healthcare providers here in the UK and throughout Europe.

The UK is already a key player, leading six ERNs—more than any other member state—and participating in 23 of 24 networks, including what is known as the Metab ERN, which covers rare hereditary metabolic disorders such as Pompe disease. Six NHS trusts participate in the Metab ERN, which aims to ensure a joined-up approach to care by bringing together paediatric and adult metabolic physicians throughout the EU. That is really important. The ERNs are a cornerstone of the UK rare diseases strategy, and the Government are committed to ensuring that no patient should be put at a disadvantage through the UK’s exit from the EU—and that is a priority for me. Therefore, an important element of our future plan will be to continue to play a leading role in promoting and ensuring public health—I am also the Public Health Minister—both in Europe and around the world. Hopefully, that will further strengthen the long tradition of international collaboration, which our clinicians and scientific community have in this country, and often lead across Europe and the world.

Let me touch further on research. The full potential for improving our knowledge of rare diseases and our work towards better treatment and, hopefully, prevention can only be realised by continued research into rare diseases. That is why the National Institute for Health Research has established 20 biomedical research centres that develop new groundbreaking treatments, diagnostics and care for patients with a wide range of diseases.

The centres enrolled patients across 60 NHS trusts and, in partnership with Genomics England, led a pilot for the rare diseases element of the 100,000 Genomes Project that has delivered the sequencing of whole genomes of more than 12,000 bioresource participants.

I am very grateful to the Minister for his generosity in giving way. My constituent has been unable to demonstrate the exceptionality required to access the treatment through an individual funding request. In reality, there is only this one standard treatment. One thing about the research into rare diseases that the Minister has referred to is the need to discover more options for treatment rather than having only one realistic one, as is the case so much of the time.

I completely agree with the hon. Gentleman. That is why I said that research is absolutely central to this. Let us be honest: this country has led the world in this field. We have an absolutely fantastic record and long may that continue, because people’s lives benefit and depend on that. Once again, he is spot on. Let me conclude my point. In 2016-17, the NHIR research infrastructure supported studies into Pompe disease across nine of its centres and facilities.

The hon. Gentleman referred to national variations in access to Myozyme treatment for Pompe disease across the UK. In England, NHS England funds this treatment for all patients, regardless of age or the form of the disease. In Scotland, the Scottish Medicines Consortium does not accept Myozyme for routine use, but it is funded for children and adults by its ultra-orphan drugs risk scheme. NHS Scotland also provides any patients with particularly complex needs access to highly specialised services in England. In Wales, I understand that the treatment is funded for children and adults with late onset of the juvenile form of the disease, but not the adult form where the symptoms are less severe.

As the hon. Gentleman will be aware, healthcare in Wales is a devolved matter, but I am sure that he will raise any concerns with the Welsh Government. I was delighted to hear about the setting up of Pompe Wales, which he talked about in his speech. It sounds really interesting. Obviously, it is in Wales, so perhaps he could send me details of it when it becomes available.

The Minister is entirely right. It is commissioned in Wales for the infantile aspect. There is no general commissioning for late onset. There has to be what is called an individual patient funding request, where a patient has to demonstrate certain things, including exceptionality.

The hon. Gentleman has put that clearly on the record.

Finally, it is worth noting that the rare disease landscape has been greatly transformed since the UK strategy was published in 2013, especially considering Brexit, the evolving legacy of the 100,000 Genomes Project and new emerging technologies such as genome editing. The recent independent chief medical officer’s report “Generation Genome”, which I said at Health questions was a landmark piece of work, and the “Life Sciences: Industrial Strategy” make it clear that genomics has an important role to play in future healthcare delivery, including the treatment of rare diseases. The House of Commons Science and Technology Committee is also currently engaged in an inquiry into genomics and genome editing in the NHS, and I look forward to seeing its report in due course. I can assure the hon. Gentleman that we will harness the remarkable prospects that these new developments present for the benefit of our rare diseases patients. The NHS has always harnessed new technology to lead the world, and it will continue to do so in this field.

I thank the hon. Gentleman once again for highlighting these issues in this debate and in today’s media for his constituent and for all those who suffer from Pompe disease and other rare diseases. I hope that I have helped to reassure them a little that the Government and the NHS are working hard to tackle these conditions and to help to improve the lives of people suffering from Pompe disease and other rare diseases because, ultimately, that is what we are here for.

Question put and agreed to.

House adjourned.