Pseudoxanthoma Elasticum

Nick de Bois Excerpts

Thursday 18th October 2012 Commons Chamber

[Nick de Bois (Enfield North) (Con)]

I am grateful for this opportunity to debate pseudoxanthoma elasticum, which is a hereditary disorder that can lead to the normal elastic fibres of the skin, eyes and cardiovascular system gradually becoming calcified, causing characteristic symptoms. I welcome the Minister to the Dispatch Box with his new responsibilities, and am grateful that my hon. Friend the Member for Burton (Andrew Griffiths), who also has an interest in this matter, has joined me in this important debate.

It is estimated that about one in 25,000 people in the world have PXE. That could mean that up to 2,500 people in the UK have the condition. Clearly, it is a rare condition, but it is potentially devastating, because approximately 60% of PXE sufferers will develop eye problems, and many experience the loss of central vision. Therefore, 1,300 people may go blind—it generally happens from their 40s onwards, but we know that it can happen to people as young as 9 years old, because any injury to the head can lead to the onset of a bleed in the eye, resulting in the sudden loss of central vision.

I should take this opportunity to thank Elspeth Lax who runs the PXE support group which has championed many individual cases in the UK, where there is a frustrating lack of knowledge among the wider medical community, including among cardiologists, ophthalmologists and general practitioners. The level of knowledge is hit and miss.

Although there is a knowledge vacuum, it is far smaller than it was 30 years ago, when Mrs Lax was told, on diagnosis, that she would go blind, and that she should give up work and not have any children. To date, her support group has looked after 567 patients in the UK, the youngest of whom was born with skin markings in six places. That is rare, but, as I said, my concern is that PXE patients can go on to lose their central vision at any time.

I am also grateful to PXE International. Its Facebook page has allowed me to engage with UK citizens and others from around the world, and to contrast UK health care management with that of other countries. PXE sufferers affectionately call themselves “PiXiEs”—the community name is used among sufferers, indicating their good humour and stoicism as they explore and expand their knowledge. It might interest the House to know that, such is the following created since the announcement of the debate, we are being watched in America over the internet.

The debate was prompted by the case this summer of Dawn Thomas, the wife of Lance Corporal Thomas, a constituent of my hon. Friend the Member for Burton, who will speak later in the debate. She was initially denied funding for anti-vascular endothelial growth factor medications, which are otherwise and forthwith called anti-VEGFs, which slow sight loss by stopping blood vessels that inhibit sight forming or growing. The primary care trust eventually conceded on funding the treatment, but my hon. Friend will deal with that later.

My interest was spurred because, as the Minister well knows, I have a continuing and long-standing interest in matters health, as evidenced by my support for health reform, and I am currently co-chair of the all-party parliamentary group on primary care and public health. I should also remind the House that my wife was diagnosed with the condition at age 7, although she is fortunately not seeking treatment for sight deterioration. I appreciate the opportunity to put that on the record.

I intend to focus entirely on the deteriorating loss of central vision, not the complications arising from calcification, which include loss of skin elasticity and gastro bleeds. To do that, I shall highlight to the Minister four key points. First, notwithstanding what I have said, all PXE patients lead a normal, active and long life, if their sight is not compromised. No shortening of lifespan is attributed to PXE. Secondly, the treatment for the sight deterioration, which is similar but not identical to wet macular degeneration, can be treated by Avastin and Lucentis, as the drugs are known in this country. This treatment significantly enhances patients’ quality of life by preserving their sight, but, as he knows, Avastin is sometimes used “off licence” by primary care trusts—though I do not wish to go into that matter now. Treatment involves periodic injections into the eye and requires regular check-ups to detect any deterioration. It is not possible to predict the number of treatments a patient will need, but, according to the National Institute for Health and Clinical Excellence, the recommended cost of Lucentis is just short of £800 per treatment.

Thirdly, I and PXE patients believe that there is both a humane and an economic case for ensuring that Avastin and Lucentis are available on the NHS for PXE patients and—crucially—on a timely and pre-authorised basis. That would avoid greater cost to the state, if a person loses their sight. Fourthly, time is critical in getting treatment to prevent sight deterioration. Overall, my point is that, unfortunately, both the NHS process and the lack of information and awareness within the medical community put sight-saving treatment at risk. The condition is not widely understood. As a result, urgent treatment is often not delivered in a timely manner.

The Government have a crucial role in overcoming that problem by ensuring that all PXE patients are looked after, and given tests and treatment promptly. The benefit would be not only sight-saving treatment for patients but a longer-term economic saving to the NHS and wider economic value, because patients could continue to work and enjoy a full life. Currently, the patient pathway works against this goal. It might take a week or longer to see a general practitioner, then a letter has to be sent to a consultant, after which it might take between four and eight weeks to get an appointment. That might mean the loss of critical time.

After that, more time might be lost, if the PCT does not agree to fund Lucentis. Why? Even though it is used for eye injections to treat WMD, NICE has not approved Lucentis for PXE—it was not even considered as part of the appraisal. We therefore have this bizarre situation: there could be two people at the same hospital and requiring the same treatment, one with WMD and the other with PXE. The first could get the drugs without any special application to the PCT, while the patient with PXE, which is one of the rarest diseases I have come across, could not, simply because it was not licensed at the time. Soon, following the changes to commissioning, clinical commissioning groups will be making these decisions locally—a dangerously slow process—which is absurd, given that the drug has been authorised for age-related WMD.

Although many of the victims of this condition are in danger of losing their sight, most likely over the age of 40, in reality a blow to the head can cause a bleed, leading to loss of vision, quite possibly within days. Fast treatment is essential, and, because a blow to the head is often not the result of an emergency incident, gaining treatment at an early stage is unlikely. Sometimes it is only with the help of active support groups that people avoid losing their sight.

There is an important distinction between age-related wet macular degeneration and PXE, because although PXE can also strike at a young age, it is a genetic condition, not a degenerative condition. That is why it has been identified as a rare condition that we can treat. Patients therefore can and should be able to continue to lead long and productive lives, because not only is it the duty of the publicly funded NHS to provide such treatment, but it makes economic sense. The Royal National Institute of Blind People, for example, estimates that the annual cost to the public purse of supporting a person with loss of vision is somewhere in the region of £14,500. According to a 2009 report commissioned by the RNIB via Access Economics, that excludes the cost of informal care, which is often provided by family members and friends, as one would anticipate.

My message and my request for the Minister in this debate is this. Support for the case for anti-VEGFs being additionally licensed for PXE is crucial, and I do not believe it will be expensive. That is something that, I hope with the support of the Government, we may be able to pursue, so that we can avoid any frankly critical time being lost should a PCT or future CCG not understand or wish to authorise that. It is equally crucial that there should be support for greater awareness of PXE in the NHS among clinicians, as well as CCGs and their support groups, so that they understand the need for urgent treatment. It is perfectly understandable why a disease that, at best, will affect 2,500 people is not widely understood or at the top of the agenda. However, given the narrative that the House has just heard, I hope that what are proven drugs—which can so easily mitigate the potentially life-changing outcomes of this rare disease—can be made available on an on-demand basis.

--- Later in debate ---

[The Minister of State, Department of Health (Norman Lamb)]

I congratulate my hon. Friend the Member for Enfield North (Nick de Bois) on securing the debate. He told the House that his wife had been diagnosed with PXE, and I am sure that this is a matter of great personal concern to him. I am grateful to him for engaging with me and the Department before the debate. I am keen to ensure that we maintain a continuing discussion on this matter. We cannot answer all the questions in the debate today, and we cannot change the whole system or the way in which the NHS operates, but let us discuss the genuine problem that has been highlighted today.

I should also like to acknowledge the contribution from my hon. Friend the Member for Burton (Andrew Griffiths), who spoke movingly about his constituent’s situation. He drew our attention to the fact that, while losing one’s sight is a critical matter for an individual, the cost to society and to the Government demonstrates powerfully the case for treatment in those circumstances. I also want to pay tribute to Elspeth Lax for her tireless work. We owe people like her, and the support groups that offer support to hundreds of patients with many different conditions, an enormous debt of gratitude.

I completely take on board the importance of fast access to treatment. It is critical. Indeed, the NHS constitution makes the point that citizens have a right to a speedy decision, without delay. People need to exercise their rights under the constitution in cases such as these.

[Nick de Bois]

It is worth highlighting that, because of the shortcomings, many people suffering from this condition have resorted to paying for their drugs themselves privately, such is the urgency of their situation.

[Norman Lamb]

I completely understand that. The debate has focused on the effects of the condition on the eye, and these matters are of considerable concern to people with PXE.

There are no licensed eye treatments for PXE. People with PXE should be advised on healthy lifestyle measures, such as stopping smoking, adopting a healthy diet and taking physical exercise, to reduce the risk of complications. They should also be monitored regularly by a health care professional. As it is a genetic condition, patients who are considering having children should receive genetic counselling, and first-degree relatives should be screened. Because of the similarities between age-related macular degeneration and PXE in the eye, some clinicians may consider using treatments that are effective in AMD, including laser treatment and the drugs Avastin and Lucentis, which have already been mentioned. My understanding, however, is that PXE has a different cause and a different process, and patients with PXE might not respond to those treatments in exactly the same way.

Lucentis is considered by some clinicians to be effective in treating people whose eyes have been affected by PXE. I have also mentioned Avastin, but neither Lucentis nor Avastin are licensed by their manufacturer for use in the treatment of patients with PXE. The National Institute for Health and Clinical Excellence has appraised or is currently appraising the use of Lucentis in the treatment of other eye conditions such as wet age-related macular degeneration and other conditions—diabetic macular oedema and retinal vein occlusion, for example—but Lucentis is currently recommended in NICE technology appraisal guidance only as a treatment for wet AMD, subject to certain criteria.

Clinicians may prescribe any treatment, including an unlicensed treatment or a product not licensed for a particular condition, where they consider it to be the best available medicine to meet the clinical needs of their patients—it is for the judgment of the clinician—subject to their primary care organisation agreeing to fund the treatment. Primary care organisations, too, are legally obliged to provide funding so that treatments that have been positively appraised by NICE are available on the NHS. In the absence of relevant NICE guidance, these primary care organisations are responsible for making funding decisions based on an assessment of available evidence and on the basis of an individual patient’s circumstances.

Where a decision is taken not to fund a treatment, primary care organisations must have a process to allow for the possibility that an individual may have exceptional circumstances—I absolutely take the point that loss of sight needs to be taken very seriously into consideration—which justify access to treatment that is not available to the rest of the population. If doctors feel that there are exceptional clinical circumstances, they can request treatments that are not usually funded on behalf of their patients through an individual funding request. I recognise, as I have said, that time can be of the essence in these cases. In this situation, a special panel that includes clinicians would carefully consider individual cases against the latest medical evidence and decide whether the treatment could be approved.

Under the NHS constitution, patients have the right to expect local decisions about the funding of medicines and treatments to be made rationally and without delay following a proper consideration of the evidence. If new evidence arises to support the use of a treatment or if an individual’s clinical circumstances change, a new individual funding request can be made. To help organisations make these difficult decisions, the Department has issued a set of core principles, and primary care organisations are required to have in place clear and transparent arrangements for local decision making on funding of drugs and for considering exceptional funding requests.

I shall deal now with the general issue of the commissioning of services for people with rare conditions. This Government are committed to providing the best quality of care for people with rare conditions. When we took office in 2010, we endorsed the right in the NHS constitution that says no one should be left behind just because of the rarity of their condition. Lack of awareness is, of course, often a real problem. The importance we attach to services for people with rare conditions has been clearly demonstrated in the reforms set out in the Health and Social Care Act 2012, which my hon. Friend the Member for Enfield North was active in supporting during its passage through Parliament. As a result, specialised and highly specialised services, which are currently commissioned at both a national and regional level through a range of NHS organisations, will be brought together under one roof. From April 2013, the new NHS Commissioning Board will directly commission services for people with rare diseases on a national basis. The board will have a clear focus on specialised services organised around programmes of care. These new arrangements for the commissioning of specialised services provide a unique opportunity to do things more effectively and smarter than in the past, and will bring real benefits to patients with rare conditions, including to patients with PXE.

Moving to a national standard system of commissioning while maintaining a local focus managed through the board’s four regions and the local area teams will provide the geographic and speciality oversight that is needed for these services. The commissioning board will set out a detailed service specification for each of the services that it will commission directly. That will link national service knowledge and expertise with local contract knowledge of providers and pathways of care, cementing the new system together in the interests of patients. The benefits to patients with rare conditions are clear: a single national commissioning policy and better planning and co-ordination will result in improved consistency around the country.

The Government are also committed to increasing awareness—which I mentioned earlier—of very rare conditions such as PXE. That commitment has been demonstrated through the UK’s involvement in the development of the UK plan for rare diseases. We shared our views on the proposed plan earlier this year, launching our consultation on 29 February, rare disease day. The consultation document was produced jointly by the four nations of the United Kingdom, and the consultation closed on 25 May.

The consultation responses will inform the UK plan, which is being developed in response to the 2009 European Council recommendation on rare diseases. That recommendation, which was supported by the UK, asked every member state to develop a national plan or strategy for rare diseases by the end of 2013. My officials are currently working through all the consultation responses—there were more than 350, which demonstrates the level of interest—and are writing a summary of the responses. They expect to publish it later in the autumn, with the final plan being published next year.

This is the first time that the UK has developed a plan to tackle rare diseases. The plan will bring together a number of recommendations designed to improve the co-ordination of care and to lead to better outcomes for everyone with a rare disease, including people with PXE. However, a plan in isolation is clearly not enough. This plan will need buy-in from everyone in the system. With that in mind, my officials have been working closely with the newly formed NHS Commissioning Board to ensure that the plan has traction within the system, so that people know about it and understand its power.

In comparison with some other member states, the UK already has good systems for supporting and treating people with rare diseases through the provision of specialised services, but that does not mean that we cannot do better. For example, more co-ordinated care saves patients time, money and stress by avoiding the need for multiple visits to various clinics and hospitals, which has too often been people’s experience in the past. We are also considering how rare diseases can be better represented in training curricula. That is critical to raising the level of knowledge and capacity in the system.

People with rare diseases are likely to come into contact with professionals from a range of disciplines: from GPs through geneticists and researchers to nurses, surgeons, mental health teams and social care workers. It is for that reason that the UK plan for rare diseases will be targeted at the whole of the health and social care sectors. The final plan will set out a coherent and joined-up approach to tackling rare diseases. It will acknowledge existing developments, such as the contribution that expert centres can make to better diagnosis and treatment of rare diseases, while proposing a number of further developments, such as better information for patients so that they can be fully engaged and helped to understand and manage their conditions.

The plan will include recommendations, actions and examples of best practice for commissioners of specialised services, royal colleges, providers of information, and staff on the ground who deliver care to people with rare diseases. It will recognise that each nation of the UK has different health care systems, and it will be for each nation to implement it in accordance with its own priorities and patterns of service. In England, much of the implementation of the final plan will be for the new commissioning board in its role as a single national commissioner of specialised and highly specialised services.

I am grateful to my hon. Friends for raising this important issue. The value of a debate such as this is that it forces Ministers to focus on rare diseases to which we might not have devoted time otherwise. I shall be happy to continue to engage with the issue to ensure that patients with PXE are given the treatment and care that they deserve.

Question put and agreed to.