A mother’s plea to the NHS

With the NHS having suspended its procedure for approving vital treatments, sufferers of rare diseases have been left in limbo. Katy Brown tells her family’s story.

19 November 2014....... Sam Brown, 6, with parents Katy and Simon from Otley. Sam has Morquio syndrome. He is being treated with drugs thanks to a trial in Manchester which have significantly improved his condition but cash for this will run out next month and the NHS is unlikely to pick up the tab.TJ100584h Picture by Tony Johnson

Let me introduce you to Sam. He is our six year old son and for the past two months we have been fighting to keep him smiling. More precisely, we have been fighting for the drug that he had been trialling for almost three years to be funded by the NHS. You see Sam has something called an ultra rare disease. That means that there are less than 500 sufferers in the country. Actually there are just 78 sufferers of Morquio Syndrome in England. Just 78.

How a disease with 20,000 sufferers is funded, researched, prioritised and understood is very, very different to one where there are just 78 people affected.

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Let me paint you a picture of Morquio. An adult the same size as a three year old. Organs squashed into a very small space. Severe physical disability. Hearing problems, sight problems, heart problems, lung problems. Life expectancy on average of 25. No treatment.

Until now. Sam is six. He hates being the smallest in his school and wishes he could run around and play football with his friends. A 12 hour round trip to Royal Manchester Children’s hospital every Thursday exhausts him.

He has bruises on his wrists and elbows from cannula after cannula. He’s had major surgery, minor surgery and more MRIs than you can shake a stick at. But every day he smiles. He embraces life and is capable of achieving anything he sets his mind to. Except of course he has this Morquio thing which may well stop him dead in his tracks. Literally.

So after decades of research and development, years of clinical trials (all of which has led to significant investment in the NHS by the pharmaceutical company), families affected by Morquio should be raising a glass to 2015 as the year when the first ever treatment for Morquio becomes available on the NHS. Vimizim.

This should be our year. Yet instead of a happy heart, there is an air of fear and dread. I have learnt lots about the complexities of treatment for rare diseases over recent months, and the many ethical, social, political and economic pressures that have led to us now finding ourselves in limbo after the NHS dropped the funding for Vimizim rather than face a legal challenge about which treatment it funds.

As Sam’s mum, of course I’m biased, but as someone who has always fought for what they believe is right I’d like to share my perspective on the many reasons I have heard sitting behind the reluctance of the NHS to fund Vimizim.

“It is too expensive,” is one familiar argument. What does that mean exactly? The reason Vimizim and other drugs for rare diseases are expensive is quite simply because the disease is rare – development is costly and risky and there is only a very small pool of people to sell the drug to and recover costs and make a profit.

However, last November, the scorecard used by NHS England to appraise the funding of new drugs was legally proven to be discriminatory to ultra rare diseases because of this very reason.

Others argue that Vimizim does not warrant the funding because it is not a cure. No, it isn’t. But it will prevent and reduce costly, acute medical interventions. And it is a first step in developing the medical technology that might lead to a cure in the future. And there are no horrendous side effects. It is win win.

I have heard politicians talk about “marginal benefits of high cost treatments”, but I would counsel against glib generalisations. Vimizim is changing Sam’s life. We would not continue to put Sam through the considerable upheaval and distress that treatment entails were it not having a dramatic effect. Be very careful about how you put a value on that.

We also all recognise that the NHS is under unprecedented pressure with an ageing population and increasing numbers of treatments and therapies, but the buck doesn’t stop with Sam and Vimizim isn’t the straw that broke the camel’s back.

Yes, choices have to be made when it comes to deciding what can and can’t be funded on the NHS. However, it is politically easier to say no to something new than it is to stop doing or changing an existing practice. It is also politically easier to say no to ultra rare diseases because you are upsetting and impacting fewer people, and representing organisations have less power, clout and resource to kick up a fuss. In terms of minimising bad publicity, it’s also quite handy that the general public, for the most part, have never heard of these conditions.

The NHS has to make choices, true, but Sam has none. Again I am not making a judgement here, it is simply a factual observation. The NHS funds without question treatment and procedures to help people who have made certain lifestyle choices. Indeed it invests in prevention, education and a multitude of support services – rightly. Sam has never had the luxury of making a choice. Yet his treatment is being questioned. How can that be right?

Following the Health and Social Care Act 2012, these decisions are for NHS England as an independent body to make and not for politicians to influence. I’m sorry, I don’t believe this is true, nor can it ever work. The government imposes budgetary constraints, it sets policy priorities. It is influencing decisions in reality every single day. NHS England spent almost 18 months designing an appraisal process for specialised commissioning which was challenged in November 2014 and proven to not be fit for purpose and legally discriminatory.

Goodness only knows how much taxpayers money has been wasted. Forgive me for not trusting or believing that a replacement and legally robust process can be put in place before April. In the meantime families are left hanging, travelling huge distances if they are fortunate to have been part of a clinical trial, not knowing whether access to the drug will continue.

At the moment Sam is still receiving treatment, but the drug company has no legal obligation to continue to provide it and it could stop at any time. Families who haven’t had access to the trial drug are meanwhile seeing their loved one’s condition deteriorate, knowing there is a drug out there but that they can’t have it. The time bomb is ticking.

So when exactly should politicians step in?

A six year old boy has his future mapped out by a cruel and debilitating disease. He’s unlikely to see his 25th birthday. But amazingly some clever scientists have developed a treatment and doctors have proved it works. It gives Sam the chance of a longer, fuller, independent life, giving back to society. He’s also fortunate to live in a nation with a world renowned system priding itself on the principle of universal health care.

How can the decision be anything but a yes?

To support the Brown family from Otley go to @KeepSamSmiling on Facebook and Twitter.