PNH Patient to receive funding for eculizumab

Posted on 17th January 2012 by info@pnh-alliance.org.uk

On the 13^th December the Herald Scotland reported on the breakthrough in patient’s fight for PNH treatment:

A Pensioner who was refused treatment for a life-threatening blood condition has finally received a “miracle” drug to treat the disease, but only after she suffered a potentially fatal blood clot.

Joyce Juszczak’s family say they are angry that it took her admission into hospital with the clot, which destroyed one-third of her kidney, for NHS Greater Glasgow and Clyde to reverse their decision not to prescribe her eculizumab.

 The 65-year-old, who appeared at the Scottish Parliament with her daughters to press for access to the drug for paroxysmal nocturnal haemoglobinuria (PNH), had failed in a series of appeals over six months, including a review of her case after an intervention from Health Secretary Nicola Sturgeon.

Her consultant submitted a new application for the drug to NHS GGC last Tuesday after she was admitted to Inverclyde Royal Hospital and the family were told it had been approved on Friday afternoon. She received her first dose of the drug the same day and her family said yesterday that she already looked a lot better.

But they remain angry that it has taken a life-threatening incident to get the health board to change its mind over the life-saving treatment for PNH, a potentially deadly condition which causes red blood cells to explode and leaves victims at risk of kidney failure and potentially fatal blood clots.

One of Mrs Juszczak’s daughters, Beverley Hardie, told The Herald yesterday: “I think it is disgraceful she had to have a life-threatening clot before they would agree to fund this treatment. If the clot had gone to her brain, heart or lungs she probably wouldn’t have survived.”

The decision to give Mrs Juszczak the drug came after one-third of her left kidney developed an infarct, an area of tissue death due to a local lack of oxygen. She needed an emergency blood transfusion and has been in hospital since.

Mrs Juszczak’s consultant haematologist, Dr Henry Hambley, who accompanied the pensioner to an initial appeal the day before he retired, said: “I am over the moon she has now been started on eculizumab. As far as I am concerned that should have happened before now.

“Thankfully the infarct occurred in an organ where there is considerable redundancy. If it had been her brain then it would have been a completely different story.”

Patient groups, which have used Mrs Juszczak’s case to highlight how Scotland is failing more than 350,000 people affected by a rare disease, have demanded an advisory group be set up to deal with specialist medication, similar to that already established in England and Wales.

They have called on Ms Sturgeon to end the “postcode lottery” which allows eculizumab to be prescribed on the NHS in England, Wales and Northern Ireland, while it remains not recommended for use in Scotland by the Scottish Medicines Consortium.

An NHS Greater Glasgow and Clyde spokeswoman said: “This patient has been regularly reviewed by a consultant haematologist and a new Individual Patient Treatment Request process has concluded the patient’s condition now meets the clinical criteria for this drug to be prescribed.”

Asked why it took a potentially fatal clot before Mrs Juszczak got the drug, the health board said: “The criteria for the prescription for this drug are set by the SMC so we would suggest that you speak with the SMC.”

Patient loses her appeal for life-saving NHS treatment

Posted on 22nd September 2011 by info@pnh-alliance.org.uk

The Herald Scotland reported on the 9^th September:

HEALTH managers have told a retired barmaid they will not reconsider their refusal to give her potentially life-saving NHS treatment for a rare blood dis-order despite admitting the medication would be “clinically effective”.

Joyce Juszczak, 65, from Gourock, was initially refused the drug eculizumab for a rare and deadly condition that destroys red blood cells and leaves victims at risk of kidney failure and potentially fatal blood clots.

Her unsuccessful appeal to an NHS Greater Glasgow and Clyde (NHSGGC) panel was made just a matter of weeks after another patient, William Devine, died within days of receiving a similar rejection letter.

Her case prompted patient groups to call for the Scottish Government to end what they say is a postcode lottery in health provision, as the drug would be available to Mrs Juszczak, who suffers from paroxysmal nocturnal haemoglobinuria (PNH), if she was living south of the Border. However, the PNH Alliance pressure group, which wrote to Health Secretary Nicola Sturgeon to ask her to intervene, told The Herald she has declined a meeting. 

Dr Henry Hambley, former consultant haematologist at Inverclyde Royal Hospital, who tried in vain on his last day before retirement to get Mrs Juszczak the drug for the stem-cell disorder, has continued to fight for the pensioner in his retirement. 

However, Andrew Robertson, chairman of NHS Greater Glasgow and Clyde, has told Mr Hambley that it will not revisit her case although he acknowledged “the variance in approach across the home countries and the uncertainty this may create for patients with the condition”. 

The Scottish Medicines Consortium (SMC), which decides which newly-licensed drugs represent good value, ruled against eculizumab in November last year, saying it is yet to be convinced of the cost-effectiveness of the £250,000-a-year drug. 

And Mr Robertson told Mr Hambley: “It is clear that eculizumab is clinically effective as defined through its licence approval by the medicine regulatory authorities. However, it has not been established that this medicine is cost-effective as defined by the SMC.” He said he was advised the assessment of the medicine was “unusual” because the manufacturer did not supply any health economic analysis

“An independent economic analysis was, therefore, commissioned which was unable to demonstrate cost-effectiveness,” said Mr Robertson. 

“I recognise that your patient has been assessed as a candidate for eculizumab by national specialists from England and by a consultant haematologist based in Lanarkshire NHS Board.

 “It is regrettable that expectations were raised and she was told she fulfils the criteria for acceptance for treatment without reference to the qualifications which apply within NHS Scotland, the host authority.” He said a devolved health service “inevitably leads to differing priorities”.

“Clearly if your patient’s clinical circumstances change, or there is a significant change in national guidance, it may be possible to re-examine the case. However, in the absence of such change, I regret that it will not be justifiable to re-examine the case.”

Patient groups say Scotland is failing more than 350,000 people who will be affected by a rare disease. They have demanded an advisory group to deal with specialist medication, similar to that in England and Wales, is established in Scotland.

Dr Hambley, who revealed another elderly patient had been refused eculizumab for PNH and died of an unrelated lung cancer, had told the health board to “think outside the box” in relation to Mrs Juszczak’s case.

Patient dies after health board rejects drug plea

Posted on 11th July 2011 by info@pnh-alliance.org.uk

The Scottish Herald reported on the 18 May:

A PATIENT refused a life- transforming drug by Scotland’s largest health board despite a plea from a top clinician has died within days of receiving the rejection letter.

William Devine’s plight was featured in The Herald last month, when we reported how he was told he could not have a treatment for the rare blood disorder paroxysmal nocturnal haemoglobinuria (PNH), at the same time as other patients were receiving the drug eculizumab.

His consultant Professor Peter Hillmen said, in an email to Mr Devine’s son, that if he had been prescribed eculizumab even a few weeks before his death, the 68-year-old would probably still be alive today.

The body which approves new treatments for use by NHS Scotland, the Scottish Medicines Consortium, rejected eculizumab last year – leaving health boards to make up their own minds whether to treat individual cases of PNH, a disorder which causes red blood cells to explode.

NHS Greater Glasgow and Clyde refused Mr Devine’s application for the drug last November. An appeal hearing was held on Wednesday, February 23.

In a letter supporting his case, Mr Hillmen told the board Mr Devine had stage four kidney failure and it was critical he started treatment sooner rather than later.

At the hearing Mr Devine, a retired draughtsman from Newton Mearns, asked the panel how long he would have to live if they did not allow him to have the drug. As it turned out, he had seven weeks.

Mr Devine was taken into hospital last month, but he died within hours from pulmonary oedema – fluid on the lungs.

In the email to Mr Devine’s son, Doug, Mr Hillmen says: “I would say that his PNH definitely contributed to his death (if it was due to pulmonary oedema) and that eculizumab if started some time before (even a few weeks) would have reduced the risk of this happening and would probably have stopped it all together.”

Doug Devine, who fought on his father’s behalf, said it would stay with him forever that he had been unable to secure the treatment doctors felt his father deserved. He added: “I am just completely devastated that this has happened and it could so easily have been avoided.”

He said living with PNH, which causes extreme exhaustion, and knowing there was a potentially effective treatment that other patients were receiving made the last year of his father’s life much harder.

He said: “They need to review the process because I would hate for anyone to go through what he went through and what I went through and to get this end result. It is heart-breaking.”

Mr Hillmen, consultant haematologist and expert on PNH who leads the only Scottish clinic for patients with the condition, said he and his staff were extremely upset by Mr Devine’s death and it re-emphasised the need to reconsider the way Scotland deals with treatments for rare diseases.

In England there is a special body which considers treatments for rare conditions, which can carry a hefty price tag. It has backed the use of eculizumab, which costs around £250,000-a-year, in patients who are severely ill with PNH as long as they meet certain criteria.

According to Mr Hillmen, the only health authority in the UK that has refused to fund the treatment for patients who are that ill is NHS GGC. It is understood the board has turned down another sufferer as well as Mr Devine.

Lesley Loeliger, a PNH sufferer living in Glasgow whose life was transformed after the health board agreed to let her have the drug, is setting up a support group for patients to campaign for equal access to treatment.

She said last month she felt “heartbroken” after meeting Mr Devine and listening to the details of his situation. After hearing about his death, she told The Herald: “I am devastated that we did not meet soon enough to try and get the medication for Mr Devine and to raise awareness in time.

“The work of PNH Scotland is to try to highlight the issue of funding and to stop anyone else suffering the way he did.”

Dr Brian Cowan, medical director for NHS GGC, said: “Our thoughts and sympathies are with Mr Devine’s family at this very difficult and distressing time.

“With regards to the prescribing of eculizumab, NHS GGC has clearly stated this treatment is not recommended by SMC and therefore each case has to be carefully considered on an individual basis.

“In reaching these decisions, we follow guidelines set out by the Scottish Government, we consider the SMC advice and we examine the individual patient circumstances.

“There were very sound clinical reasons why this patient was not prescribed the drug.”

The Herald reports on Scottish patients fight for treatment

Posted on 26th April 2011 by info@pnh-alliance.org.uk

The Herald reports on Scottish patients fight for treatment

The Herald has published two articles on PNH and differing access to treatment in Scotland.

Vital treatment refused to patients with rare disease

Published on 18 Apr 2011

Helen Puttick Health Correspondent

DANGEROUSLY ill patients living in Scotland’s largest health board area are being refused life-transforming treatment available to sufferers with similar symptoms throughout the rest of the UK.

Experts say lives are being put at risk by a “lottery” for people with the rare blood disorder paroxysmal nocturnal haemoglobinuria (PNH), which affects around 12 patients north of the Border.

The disorder causes red blood cells to explode, leaves patients too exhausted for simple tasks and at risk of kidney failure and potentially fatal blood clots. Median survival from diagnosis is 10 to 22 years. In at least two cases, NHS Greater Glasgow and Clyde (NHS GGC) has refused to fund the first treatment, called eculizumab (a monoclonal antibody), ever approved for patients with the condition.

The drug, which costs around £250,000 a year, has been shown to significantly improve symptoms and prevent the need for regular blood transfusions in around two-thirds of patients.

In one example, a sufferer living in Newton Mearns, East Renfrewshire, was given the treatment while another patient was rejected even though he is developing kidney failure.

His consultant said it was “critical” he started the treatment sooner rather than later to stop further deterioration.

A spokesman for the PNH Alliance, a group made up of medical experts and patient representatives, said: “The lives of patients are at risk and inequity of access to therapy in Scotland is clearly an unacceptable situation. We are urging Greater Glasgow and Clyde NHS Board to reconsider its policy with immediate effect.”

Experts say the situation shows the system in Scotland, where individual health boards are left to make their own decisions about treatments rejected by drugs screening body the Scottish Medicines Consortium (SMC), is not working for people with rare illnesses.

Hundreds of thousands of people have rare diseases in Scotland. Last month The Herald reported patients with the unusual muscle-wasting illness Pompe disease were fighting a postcode lottery to get a life-saving treatment, which had been approved for use by the NHS south of the Border. In England there is a system for considering treatments, which can carry a hefty price tag, for rare diseases.

England has backed the use of eculizumab in patients who are severely ill with PNH, as long as they meet certain criteria.

SMC refused to approve eculizumab for use on the NHS last November. Professor Peter Hillmen is a consultant haematologist and expert on PNH, who leads the only Scottish clinic for patients with the condition as well as heading up a key treatment base for the illness in Leeds. He said: “I have two to three patients in Glasgow who are not funded. They are the only patients in the UK who do not have treatment.”

Most of Europe as well as other countries such as Australia are funding the drug, according to Mr Hillmen, who described the situation as “unequal”.

NHS GGC medical director Brian Cowan said: “This treatment is not recommended by SMC and therefore each case for the prescription of eculizumab has to be carefully considered on an individual basis.

“In reaching these decisions, we follow guidelines set out by the Scottish Government, we consider the SMC advice and we examine the individual patient circumstances. In fact two NHS GGC patients have been prescribed the drug and are currently undergoing treatment with eculizmab for PNH.”

A spokesman for SMC said: “SMC assessed eculizumab for the management of paroxysmal nocturnal haemoglobinuria and advised NHS Scotland in November 2010 that it was not recommended for use. We have been in discussion with the company throughout the assessment process regarding SMC requirements and procedures and we remain willing to continue these discussions.”

http://www.heraldscotland.com/mobile/news/health/vital-treatment-refused-to-patients-with-rare-disease-1.1096779

So near … yet health board places them far apart

Published on 18 Apr 2011

THEY live a mile from each other on Glasgow’s outskirts and suffer the same rare disease – but their lives are veering down opposite paths.

Lesley Loeliger, of Newton Mearns, is taking the first treatment licensed for patients with PNH. She is no longer housebound with exhaustion or haunted by the prospect of dying while her children are at school.

Fellow sufferer William Devine, also from Newton Mearns, has just been told by NHS Greater Glasgow and Clyde it will not pay for him to receive the drug. He is so tired he spends entire days in bed, he struggles to walk more than 60 yards and his kidneys are failing because of the illness.

Mrs Loeliger, 43, said: “I genuinely felt heartbroken talking to him because that used to be me.” She was diagnosed with PNH at the end of 2005 after more than a year of utter exhaustion.

She was initially given the traditional treatment, blood transfusions every four to eight weeks, but her body started developing antibodies against the donated blood. Even with the transfusions she said the quality of her life was “rubbish”.

“The physical symptoms were terrible,” she adds.

“My husband was working all day and coming in at night and having to do everything, even to the extent of having to carry me upstairs and put me to bed. It was like I was not part of the family any more.”

The couple found people to take their children to school and their church delivered evening meals several times a week. Doctors applied for Mrs Loeliger to receive eculizumab. It was approved in 2008 and six months after she began the regular injections, her life changed. “I woke up one morning and thought, ‘I feel strangely different’,” she says. “I started to do more.” Today she is able to take Amy, 10, and Andrew, 13, to school, cook dinner for everyone and go on family outings.

But Mr Devine, 68, is not so fortunate. He gives an example of his daily exhaustion, describing how he woke and made tea at what he thought was 7.10am only to realise the sky was darkening outside.

“It is a very debilitating illness and it is hard to describe,” says the retired draughtsman. He was diagnosed with PNH three years ago. His son, Doug, says his dad was a sociable man but now spends more days than not housebound.

Doug also says his father has stage-four kidney failure, while a previous stroke means his risk of suffering a blood clot is high. Blood clots in the veins or arteries account for approximately 40%-67% of PNH-related deaths.

NHS GGC refused to fund Mr Devine on eculizumab, turning down the family’s appeal, which was backed by a leading clinician, earlier this month.

http://www.heraldscotland.com/mobile/news/health/so-near-yet-health-board-places-them-far-apart-1.1096790

RDUK publishes ‘Experiences of Rare Diseases: An insight from patients and families’

Posted on 10th January 2011 by info@pnh-alliance.org.uk

On 6 December Rare Disease UK published ‘Experiences of Rare Diseases: An insight from patients and families’ including patient case studies and the key findings of their survey conducted in summer 2010.

The key findings were documented as follows:

Diagnosis

1. Patients and families affected by rare diseases wait far too long for a correct diagnosis.

2. A worrying number of people with rare diseases receive incorrect diagnoses before their final diagnosis is made.

3. Patients and families worry about the level of awareness of rare diseases among healthcare professionals.

4. Patient organisations play an important role in the diagnosis of rare diseases

5. The experiences of patients and families of diagnosis can vary greatly raising concerns about equality of access and fair treatment in different parts of the country.

Patient Care, Information and Support

1. Patients and families are not provided with enough information on all aspects of their condition, both at first diagnosis and subsequently.

2. Information to patients and families must be provided in a range of formats and at various levels of medical and scientific detail to ensure full understanding and informed decision making.

3. Patient organisations are often the main or only source of information for rare disease patients.

4. There is a lack of support for rare disease patients with their medical and non-medical issues.

Coordination of Care

1. The majority of patients’ care is poorly coordinated.

2. Patients have to attend multiple clinics for different aspects of their condition, often at a long distance from where they live.

3. The majority of patients do not have access to a specialist centre for their condition.

4. Patients frequently experience problems with medical, psychological, financial, social and other issues at transition periods.

Access to Treatment

1. Trying to obtain medicines can be distressing for some patients and families.

2. There is no licensed treatment available for most patients with rare diseases.

3. Some patients are informed of off-label or unlicensed medicines but often patients and families have to inform their doctor.

4. Patients and families experience inconsistencies in access to medicines.

The report is available to download in full at http://bit.ly/ebOjj8.

RDUK press release: Joint RDUK and AMRC workshop on rare disease research – 9th December in London

Posted on 5th November 2010 by info@pnh-alliance.org.uk

Joint RDUK and AMRC workshop on rare disease research - 9th December in London. Share your experience and inform policy.

Dear RDUK member,

We are holding a joint workshop with the Association of Medical Research Charities (AMRC) on Thursday 9th December 2010 in Whitehall, London.

The workshop will examine the challenges funders of research into rare diseases face in the UK. The day long schedule will include speakers from charities, industry, public affairs think tanks and academia. View the programme for a break down of the day. The outcomes of the discussions will inform our report into a strategy for rare disease which will be launched on Rare Disease Day 2011.

We are inviting all who fund research into rare disorders across all sectors, from charities, industry and public sector, to attend the workshop. The costs for the day range from £15 to £30 for charities and £60 for industry. See the information leaflet for further information, including venue details.

To reserve a place fill out the booking form and return by post or email to the AMRC, details are on the form.

If you would like further information about the event, please contact me: stephen@raredisease.org.uk or 020 7704 3141.
Best wishes,
Stephen

stephen@raredisease.org.uk

02077043141

RDUK press release: Media volunteers needed!

Posted on 15th October 2010 by info@pnh-alliance.org.uk

The following Rare Disease UK press release is searching for media volunteers in relation to their launch of ‘Experience of Rare Diseases: An insight from patients and families’.

Media volunteers needed!

Launch of RDUK publication: “Experiences of Rare Diseases: An insight from patients and families”

You may recall that over the summer we sent out a survey on patients’ and families’ experiences of rare diseases. We received a fantastic 600 responses. We are in the process of completing a publication to outline the results of the survey. The publication: “Experiences of Rare Diseases: An insight from patients and families” is due to be launched in November.
To accompany the launch we are hoping to get media coverage to raise awareness of rare diseases and some of the issues patients and families face in areas such as:

- accessing a correct and timely diagnosis
- the availability of information about the condition
- accessing the range of support needed
- accessing treatment
- coordination of care
- the availability of information and the ability to participate in research

If you are interested in raising awareness of the need for a strategy for rare diseases and are willing for your story to appear or to be interviewed by the media, please could you download and complete the form below and return it to us. This is really helpful as it means we can move quickly if there is any interest from the media.

Download the form (Word doc.)

If you work for an organisation, please feel free to distribute to members you think may be interested in participating.

Best wishes,
Stephen

stephen@raredisease.org.uk

02077043141