Leeds rare condition sufferer in drugs plea

Angela Paton from Kippax, who has Morquio Syndrome and faces losing her life-changing treatment. 'Picture Jonathan Gawthorpe.
Angela Paton from Kippax, who has Morquio Syndrome and faces losing her life-changing treatment. 'Picture Jonathan Gawthorpe.
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Angela Paton, 41, is in a race against time for continued access to a life-changing drug. She has just four doses left. Joanna Wardill reports.

At the age of 41, Angela Paton is one the UK’s oldest survivors of the extremely rare and degenerative Morquio Syndrome.

The inherited condition - which limits growth and mobility and affects eyesight, hearing, breathing and the heart - currently affects just 105 people in the UK. Most of those are not expected to live beyond their 20s and just five per cent live over 40.

But Angela, of Kippax, is now facing an incredibly uncertain future as time runs out for her access to Vimizim - the “miracle” drug which has vastly improved her quality of life over the past three years.

After the NHS scrapped its own system for approving drugs for rare conditions, she and other Morquio patients - who took part in the original clinical trials - have been given the drug on compassionate grounds since April 2014 by its manufacturer BioMarin.

But as NHS England continues to delay its decision on future funding, BioMarin has been forced to announce it is ending that ‘goodwill’ funding from next month.

Angela, who travels to Manchester Royal Infirmary for a weekly intravenous infusion of the drug, calculates she has just four more doses left.

Due to the degenerative nature of the disease, she said she is “terrified” of a future without the drug. She told the YEP: “I’m absolutely beside myself. I’m literally at breaking point. If I lose access to Vimizim, my health will again begin to deteriorate and the implications for me are enormous. Any gap in treatment is irreparable.

“For me personally, I was really struggling before I started the treatment. I had real concerns I would have to give up work. Simply getting up and getting showered would leave me exhausted. My biggest fear is not being able to work and losing the quality of my life. I live by myself and have a mortgage. If I didn’t work, I would lose my house.

“It’s absolutely horrifying. I have four more infusions left before it’s gone and that’s it.

“I’ve lived 41 years with a disease that’s incurable and untreatable and finally some clever scientists come along with a treatment and I just can’t have it - not because it’s too expensive or for any other reason but the health service, which is supposed to look after our health, has just failed and is incapable of being able to do what it’s supposed to do.”

Vimizim is an enzyme replacement therapy which aims to not only reduce symptoms and increase quality of life but also slow the progression of the disease. It was licensed by the European Medicines Agency in April last year and is now commercially available in 21 countries including Germany, Spain, France and Italy.

But in England, the situation remains unclear amid confusion over funding after the collapse of a process to evaluate the commissioning of drugs to patients with rare illnesses in December 2014.

A proposed new policy is currently undergoing consultation but in the meantime NHS England has yet to make a decision on any interim funding for the drug.

Angela and other Morquio patients - including Sam Brown, six, from Otley, whose plight has also featured in the YEP - recently travelled to Parliament Square in London to stage a protest against the NHS delays. They were joined by campaigners on behalf of those with Duchenne muscular dystrophy and tuberous sclerosis, who are similarly hit by the delayed decision. Angela said: “They need to realise it’s our lives they’re messing with. And it’s entirely down to bureaucracy.

“The NHS has given all sorts of deadlines. They said they should have a process in place by the end of April. They also said they wouldn’t make a decision until June or July - but the budget for the financial year could have already been allocated by then. There are no clear timescales or commitment. In the meantime we’re stuck in this nightmare, fighting for a treatment that we need.”

Angela, whose symptoms first appeared at the age of three, believes the reason she has lived longer than expected is largely due to luck - that some of disease’s more severe aspects are not as bad for her.

“But having the energy to go to work and do social things is definitely down to the drug - simple things that everyone takes for granted, that makes life worth living,” she said.

“For younger children, getting Vimizim from an early age could well have an impact on longer-term life expectancy. Little children have been diagnosed since the drug was licensed, who were too late for the clinical trial. They have been left completely in limbo. I’m absolutely terrified. As it stands now, from the way it’s being dealt with, I can’t see anything being done about it.”

A statement from BioMarin said that in October 2014 it made a “generous five-year offer” to NHS England to allow all known patients to be treated - but they received no response. The statement went on to say it is “extremely sad” but “BioMarin will, as a result of the delays encountered by NHS England, be ceasing the financial support programme from the end of May 2015. NHS England has yet to respond to BioMarin on this matter.”

It added: “Patients with Morquio A syndrome can deteriorate quickly without treatment and the 34 people in the UK - most of whom are children - who were on the trial deserve to be able to receive treatment with minimal disruption to their lives.”

An NHS England spokesman said: “We’re committed to listening to the results of the public consultation now underway, and the NICE appraisal process.

“It’d be wonderful to be able to fund everything instantly, but unfortunately that’s never been the reality, so instead there is an annual process where the NHS carefully identifies the highest priorities for new treatments, which is what’s now happening.

“We have also corresponded extensively with the relevant pharmaceutical companies.”