PXE News

FANTASTIC NEWS  PXE DEBATE IN HOUSE OF COMMONS

18 Oct 2012 : Column 591 - Transcript

Pseudoxanthoma Elasticum

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

5 pm

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.

18 Oct 2012 : Column 592

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

18 Oct 2012 : Column 593

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.

5.11 pm

Andrew Griffiths (Burton) (Con): May I begin by thanking you, Mr Deputy Speaker, and Mr Speaker for allowing me to make a brief contribution to this Adjournment debate? I congratulate my hon. Friend the Member for Enfield North (Nick de Bois) on the work that he has done on this important issue. He talked about the support group, and I am delighted to say that he has been a great friend of the PiXiEs. His continued support in raising the issue has gone a long way to reassure sufferers that somebody is taking notice and that somebody cares about the terrible situation in which they find themselves.

As my hon. Friend said, I come to this debate because of a constituency case. Mrs Dawn Thomas came to my constituency surgery a few months ago. Hon. and right

18 Oct 2012 : Column 594

hon. Members will know that MPs’ surgeries are quite often the destination of last resort. People come to us in desperation when they have tried every other avenue and taken every other opportunity. They have asked everybody else they can think of for help; they then come to their MP and expect us to deliver what others have not been able to deliver. Often we are put in a difficult position, but I can honestly tell the House that when I was confronted by Mrs Thomas and her husband my heart went out to them. Theirs was a desperate situation, and one that in the 21st century we surely cannot allow to continue.

Let me put the matter in context. Mrs Thomas is a young woman—she is 44 years old—and she is a mother. She plays an active role in her community. She works as a secretary in a local haulage company. She enjoys playing darts. She has never claimed benefits; she pays her taxes. She has done everything right in playing her part in the big society, yet she was diagnosed with PXE at the age of 21—I congratulate my hon. Friend on his dexterity in using the technical terminology in his speech, but I will take the easy option and refer to it as PXE. In the meantime, Mrs Thomas lost the sight of her left eye as a result of another illness. She had no real symptoms of PXE until about two months ago, when her sight began to deteriorate rapidly. In desperation, she went to her GP, who referred her to a consultant. The consultant gave her the devastating news that she had PXE and that she would go blind.

There was hope, however, in that there was a treatment out there that could save Mrs Thomas’s sight and allow her to lead her life as she knew it. She applied for the treatment but was refused by the primary care trust. She appealed, and received a devastating, formal, bureaucratic letter that told her in no uncertain terms that she would go blind. To receive such a letter must be a dreadful experience for a wife and mum. That is why she came to see me.

The story was taken up by my local newspaper, the Burton Mail, which campaigned on Mrs Thomas’s behalf, and by the national press. I am grateful to South Staffordshire PCT for looking again at her case. At the first appeal, however, it said that her case was not exceptional enough. I would say that anyone’s sight was exceptional, and that we should do all that we can to save it. I am delighted to say that the PCT reviewed her case, and that she is now receiving the treatment that she deserves.

The PCT has confirmed to me that the cost of treating Mrs Thomas with Lucentis is £18,000, while the cost of Avastin is just £8,000. Let us compare either of those sums to the cost to the taxpayer if she were to go blind. She would be unable to work, and she would be forced to claim benefits. Surely it makes economic sense for the Government to give her the treatment that she needs at an early stage, so that she can keep her sight and continue to lead the life that she loves. I am sure that the House will understand that no MP wants to be in the situation that I found myself in when I had to tell Mrs Thomas that the NHS could not help her, and that she was facing blindness.

5.17 pm

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.

18 Oct 2012 : Column 595

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.

18 Oct 2012 : Column 596

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

18 Oct 2012 : Column 597

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

18 Oct 2012 : Column 598

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.

5.30 pm

House adjourned.



NEWS JUST IN
06.08.2012

 

Soldier's wife denied £800 injections blames NHS postcode lottery for blindness

A soldier's wife has condemned the postcode lottery of care on the NHS after she was denied treatment she needs to save her eyesight.

 

 

Dawn Thomas who is losing the sight in her left eye and having problems with her right Photo: Cascade New/Neil Barker

By Telegraph reporters  2:33PM BST 06 Aug 2012

Dawn Thomas fears her family may have to sell its home , to pay for private help if South Staffordshire Primary Care Trust (PCT) continues to deny her medication available elsewhere on the NHS.

The PCT told the lance corporal's wife that it would not fund injections which can cost up to £800 each.

The trust has since decided to review its decision following the receipt of further information about the patient's case from the Macular Disease Society but is yet to give its ruling.

"If the PCT doesn't fund the treatment it will condemn me to blindness," said the 44-year-old, a mother-of-one.

"I would have to give up my job and driving - it would be life-changing and devastating."

Mrs Thomas, from Branston, Staffs, who has almost lost vision in her left eye and is having trouble with her other eye, added: "If the PCT doesn't fund the treatment it will condemn me to blindness.

"I would have to give up my job and driving - it would be life-changing and devastating.

"We are now thinking of selling our house to fund the treatment privately."

Although Mrs Thomas was diagnosed with pseudoxanthoma elasticum (PXE) when she was 21, it has only given her serious cause for concern in the past 12 months.

After suffering headaches and worsening vision in her left eye at the turn of the year, she saw a consultant at Burton's Queen's Hospital who allegedly attributed her problems to her glasses and told her to return in a year.

Concerned, Mrs Thomas saw her GP and two months later was seen at the Royal Derby Hospital by another consultant, who spotted abnormal blood vessels and the appearance of a bleed in her left eye.

Another expert at the hospital confirmed the findings and the fact that treatment was available - but not on the NHS.

He supported Mrs Thomas's funding bid to the PCT but it sent her a letter saying her case was not 'exceptional enough'.

"I've worked all my life, always paid my national insurance and thought I would never have a problem getting treatment on the NHS," she said.

"I thought the NHS was healthcare for everyone but since I've gone through all this I feel like they don't care about people.

"It's about whether they meet their expenditure targets. They just seem so heartless.

"As far as I know, people in other PCTs are getting it - so why can't I?"

An NHS spokesman said the original decision not to fund Mrs Thomas's treatment was 'being reviewed'.

"This is following the receipt of further information from the Macular Disease Society, who are acting on behalf of Mrs Thomas," he said.

"The decision will be reviewed and examined by our clinically-led panel and a decision should be taken within a month."

Mrs Thomas needs anti-vascular endothelial growth factor medications (anti-VEGFs), which slow sight loss by stopping blood vessels forming or growing.

The deterioration, known as wet macular degeneration, can be treated by three drugs: Macugen, Avastin and Lucentis.

Depending on which is used, treatment can cost up to £700 or £800 per injection, plus the consultant's fees if the treatment is private.

PXE is a hereditary disorder in which the elastic fibres that normally occur in the skin, eyes and cardiovascular system gradually become calcified and cause characteristic symptoms in each area.

It is estimated about one in 25,000 people in the world have PXE, but recent indications are that it is more common.

Approximately 60 per cent of PXE sufferers develop eye problems and many experience the loss of some central vision.

HEALTH chiefs' initial refusal to fund treatment for Dawn Thomas was 'a cruel decision' that could potentially have a 'massive impact on her quality of life', campaigners have claimed.

The RNIB blasted South Staffordshire Primary Care Trust (PCT) after it sent the 44-year-old a letter declining to pay for her to have injections - despite the availability of treatment in other parts of the country.

"The refusal of her PCT to fund an effective and proven treatment is a cruel decision that is likely to mean Mrs Thomas has to stop working," said Steve Winyard, the charity's head of campaigns and policy, speaking after the initial letter.

"There will be a massive impact on her quality of life and a big long-term cost to the taxpayer. "If there's an approved treatment available which will save a person's sight then it should be given.

"It's vital people diagnosed with sight threatening conditions have the opportunity to receive proven and timely treatments."


* * * * * * * * * * * * * * * * * * * * * * * * * * * * *

The article above just re-iterates the problems we are faced with.  The work of the PXE Support Group is even more important now than it has ever been.  Every week we support people with PXE who have started to lose their central vision. We are fighting battles constantly to educate staff in Hospital Eye Units about PXE.  Awards for All (The Lottery Fund) gave us a grant for £10,000 which came to an end on the 27th July 2012, to fund a project called Ten Days to Save Sight.  Part of this project was to hold a symposium however as this was not viable as the Specialists and Doctors etc are being inundated with patients, I was invited to give the first presentation of many on PXE at the King Edward VII Hospital, Prince Charles Eye Unit in Windsor. The presentation was given as part of the eye units staff training sessions held during lunch. As I have PXE and have the eye problems I am able to tell the specialists what it is like to have to deal with the fear of not knowing what is going to happen, not being able to plan for your future etc.  Giving the presentations gave the medical profession a chance to learn about PXE and see for themselves first hand what the skin manifestations look like and to examine my eyes.  The feedback was brilliant and I have been invited back in 6 months time.  Now we urgently need more funding to carry on this work in other counties as we want to roll this training out on a National basis.

Awards For All - Ten Days to Save Sight

Awards For All very kindly gave PiXiE a grant of £10,000 in August 2011.  The grant is for a project called "Ten Days to Save Sight".

PXE can affect our sight and lead to central vision loss, this does not affect everyone with PXE (approx. 60% of sufferers) this is why our project is crucial so that we can tackle the problems we currently have due to the lack of information /awareness within the medical profession to make sure that all PXE patients are looked after, given tests and treatment promptly.  If experiencing distorted vision when looking at objects, or when reading it seems that some of the letters are missing etc. you have Ten Days in which to be seen, have the tests carried out and if you have an angioid streak within the macular you will need an injection in that eye.  Timing and seeing someone who has PXE knowledge, as well as being an Ophthalmologist is of paramount importance. 

Thanks to the grant it means we now have the funds for the development of this website which is accessible to people with limited vision, providing information, education and importantly access to informed, educated and aware medical professionals.  Our website can reach people in the community who are isolated with the disease, as many of us can feel that we are the only one in the world with PXE (which is what happened to me, hence my reason for founding the first PXE Support Group in the world.


 

Harvard Medical School
Pixie Chairperson visits research centre

During November 2000, PiXiE founder, Elspeth Lax, visited Berthold Struk at the Harvard Medical School, Boston, US. One of the world's leading researchers into PXE, Dr Struk tells us about his work and Elspeth's visit.

 

Berthold Struk at work, pipetting patients' DNA into titer plates for 
PCR reactions.

It was one of my personal highlight events of the last year when, in November, I eventually had the long awaited chance to personally meet Elspeth Lax, Founder and Chairperson of the world's first patient support group for Pseudoxanthoma Elasticum. 

PiXiE was founded in 1984 in a suburb of London, four years before the National Association for Pseudoxanthoma Elasticum (NAPE) was established in the United States.

I was very curious what character I would meet... and my expectations were high. As a physician, I know too well - and I have seen many, many times - what it can mean to someone to be confronted out of the blue with the diagnosis of a rare disorder like PXE. Often, even the physicians who make the diagnosis do not exactly know about most of the health implications of such a diagnosis for their patients.

This was also Elspeth's experience at the time when she was first diagnosed. Instead of accepting her initial shock and disorientation about diagnosis and implications of a rare inherited disorder, she took her needs for more, better and readily understandable information to a new, at the time vastly unknown and therefore unusual, but also very healthy level, in order to facilitate her understanding and daily coping with this disease. She broke her isolation and started to look for other patients with PXE to learn from them and to share her experiences. This unusual personal courage evolved into what is now one of the most successful national and independent patient support groups for a rare disorder like PXE.

How unusual and novel Elspeth's founding of a patient support group was back in 1984 may be illustrated by the following comparison. It happened approximately at the same time when the Polymerase Chain Reaction (PCR‰) was invented. By that time genetics, particularly in Europe, was still operating on its traditional grounds prior to the molecular revolution which was considerably facilitated by the invention of PCR. Patient support groups were as single as the knowledge about the PCR method in 1985. Independent of PCR but of similar importance to the changing role of lay people in medicine, Elspeth was one of the very early entrepreneurs and advocates for a support role of lay people for other patients with the same disease.

As PCR is now a basic and simple laboratory tool (comparable to a screwdriver in a household toolbox), multiple copies of patient support groups for all sorts of diseases have appeared like a fashion or like mushrooms on wet forest ground, not always, but often to the advantage of patients.

There is no doubt that apart from certain exceptions the concept of lay support for patients has proven to be as useful and fruitful for patients and physicians alike as is PCR for molecular biology.

The inventors of PCR received a Nobel Price. Unfortunately there is no such price for extraordinary ideas and achievements of lay people in medicine, otherwise Elspeth and, of course, otherpeople with similar achievements would be very hot candidates.

After so much introduction with regard to my personal perceptions of Elspeth's achievements in order to explain my high expectations, let me summarize my impressions after meeting her, talking to her and working with her as follows. I met an exceptional character, as I expected to meet, and I could convince myself that her organizational talent, her spirit, her commitment to help and serve patients with PXE and her ability to work hard, clearly and heavily outweighs her personal weight which is of course a very personal matter. (Elspeth, I tried to be honest and funny!)

After attending the board meeting of NAPE in Denver Colorado, Elspeth visited Dr Neldner in Lubbock Texas. She stayed there for a week and then travelled to Boston. She arrived on Wednesday before Thanksgiving and spent Thanksgiving and the following weekend together with us at our home in Brookline.

We spent an unforgettable Thanksgiving together with other guests at our home. It remains unforgettable because we were an international group of people, celebrating the most traditional and important American family holiday of pilgrimage according to the customs my family has gotten acquainted with during our five years of research pilgrimage here in Boston.

The following day, Elspeth decided not to tour Boston but to help out in the lab. This decision caught me by surprise, but just for one second, and I accepted her offer immediately since I had several manuscripts which needed to be transformed from German-American English to 'Shakespeare-English' - and that was what Elspeth worked on during her visit at the lab.

Elspeth Lax, helping out at the Laboratory of Molecular Genetics and Genetic Epidemiology at Brigham and Woman's Hospital, Harvard Medical School, Boston, Massachusetts


 

We also used the breaks to talk about genetics and medicine in general and also about specific medical and genetic issues of PXE and how her support group can further integrate into the Harvard PXE Consortium, which comprises 17 academic institutions and several national patient support groups around the globe.

This huge collaborative effort resulted in the confinement of the PXE gene to less than 500, 000 base pairs on the short arm of chromosome 16, as was recently published in the medical literature. In order to explain the meaning of this considerable advancement of PXE research to a non-scientist, imagine the length of chromosome 16 as 100 cm. The location of the gene responsible for PXE has now been restricted to a spot of 0.5 cm in length on the short arm of chromosome 16. Our group's initial report of the chromosomal location of the PXE gene in March 1997 localized the gene to a 3 to 
4cm region on the short arm of chromosome 16.

Yes, indeed this is very close and the discovery of the gene can happen any day in any of the laboratories which work on PXE. 
We shared our experience and views about the NHS and where to best establish a clinical center for PXE within the UK.

Since PXE is a rare genetic disease, it is important that most patients are seen by physicians with a special interest and expertise in such a disease. This is to the benefit of both sides. The patients receive expert care and provide the experts with the chance to further sophisticate their expertise with any additional patient they see.

I undertook part of my medical studies in London at Charing Cross Hospital and the Royal London Hospital and I still have excellent contacts with those physicians with whom I worked. We discussed a couple of first choices in London, Edinburgh or Oxford.

On Elspeth's last day before returning to the UK, she took our kids out to one of the local malls. They all had a wonderful afternoon since there were a lot of potential holiday presents to look at.
Since then we are missing her here in Boston.