Rare Disease Strategy

Jim Shannon Excerpts

Monday 30th April 2012 Commons Chamber

[Mr Edward Timpson (Crewe and Nantwich) (Con)]

As ever, I am grateful, and indeed delighted, to have the opportunity to address the House in this timely and much-needed debate. Just eight days ago, along with 37,000 other hardy souls, I stood, full of trepidation and excitement, at the start line for the 2012 London marathon. I was running with my wife, Julia, and am pleased to report that we finished the course together in just under four hours. Far more importantly, our run raised over £6,000 for the national charity CLIMB.

That is all very interesting, you might say, Mr Deputy Speaker, but what has this rare accomplishment for a Member of Parliament got to do with a rare disease strategy for the UK? To explain, CLIMB stands for “children living with inherited metabolic diseases” and is a charity based in Crewe in my constituency. It is one of an important network of rare disease charities that strive to raise awareness of rare diseases, not least through Rare Disease day, which takes place on the last day of February each year. Under the stewardship of Steve Hannigan, CLIMB provides vital advice and support to many children and families affected by one of the around 730 known metabolic diseases. One of those children is my nephew Leo.

Leo was born in 2001 with an inherited metabolic disease known as MCADD. Approximately one in 10,000 babies born in the UK has MCADD, which means that they are missing an enzyme that helps break down the fats that provide energy for the body, particularly after long periods without food. This inability to break down fat leads to the build-up of medium-chain fats that can produce toxic substances and lead to severe symptoms, including seizures and possibly coma and death. As Leo was born before the introduction of routine baby screening for MCADD in 2008, neither medical professionals nor his parents knew that he had the disease.

For Leo, all was well until he was 10 months old, when he contracted pneumonia that was coupled with three days of severe hypoglycaemic episodes. Because the knowledge of rare diseases among medical staff was and, indeed, remains limited, and because he had not been screened for MCADD, no one picked up on this underlying rare condition and the need to treat him accordingly. More by luck than by informed professional judgment, thankfully Leo survived.

When Leo suffered a further hypo episode at 14 months, triggered by nothing more than a routine cold, the doctor on duty, who had some knowledge of MCADD, realised that his low blood sugar was unexplained, and subsequent relevant tests revealed a diagnosis of the metabolic disease.

Leo is now 11 and living a full and active life, but, with the mortality rate of children under the age of one who have undiagnosed MCADD being approximately 25%, the routine screening that CLIMB long campaigned for, and which is soon to be introduced throughout all four nations of the UK, is a vital tool in saving lives.

In the past year alone, more than 80 newborn babies have been diagnosed with MCADD—80 babies whose disease would otherwise have remained undetected and who would have been at significant risk. That is why I wanted this debate: to be able to speak up for all those, like Leo, with a rare disease, to put a proposition to the Minister and to question him about, how we can improve the services, information, treatment and support that those with rare diseases receive in order to ensure that we maximise their quality of life.

We are not talking about a handful of isolated cases. With close to 7,000 distinct rare diseases having been discovered, and with five new diseases described every week in medical literature, rare diseases are collectively far from rare. In the UK it is estimated that 3.5 million people, or one in 17, will be affected by a rare disease at some point in their life, with 30% of patients dying before their fifth birthday.

So what is a rare disease? The European commission on public health defines rare diseases, sometimes known as “orphan diseases”, as

“life-threatening or chronically debilitating diseases which are of such low prevalence”—

affecting fewer than one in 2,000 people—

“that special combined efforts are needed to address them.”

About 80% are genetic in origin, but many are auto-immune, such as Crohn’s disease, and others are infectious in nature.

Motor neurone disease, cystic fibrosis, muscular dystrophy and Huntington’s disease may be some of the more widely known rare diseases, whereas acquired non-histamine induced angiodema and Adair-Dighton syndrome are just two of the many thousands of others that I have come across in my own research.

[Jim Shannon (Strangford) (DUP)]

One rare disease that I am aware of is Prader-Willi syndrome, which affects the muscular build-up, eating habits and sleep patterns of some 2,000 people in the United Kingdom and 50 people in Northern Ireland. Does the hon. Gentleman feel that, if there is to be a strategy for the United Kingdom, it must involve all those regions where health matters are devolved to the Administration? Does he feel also that along with such a strategy and, given all the different areas that there are, we need to have something for respite care, because parents, and the way in which they play their part, are vital?

[Mr Timpson]

I am grateful to the hon. Gentleman for raising a particular issue in his constituency in Northern Ireland. He is absolutely right that we need to ensure that the strategy we develop for rare diseases supports not just those who suffer from the disease, but the families who every day, for every hour, have to cope with it and support them. We need to ensure that that is a central part of the strategy.

Such diseases—especially those, including the one to which the hon. Member for Strangford (Jim Shannon) refers, that are particularly rare—are no less important, however, and therein lies the problem. Most rare diseases are under the medical and public radar—too exceptional to attract the attention, recognition and resources required and, above all, the coherent plan needed to tackle the fragmented, inefficient and often inequitable services on offer.

That is why I welcome the Government’s current consultation on the development of a UK strategy for rare diseases and why this debate is so apt. For too long, rare diseases have been placed in the “too difficult to do” pile, but with the onset of changes to health care commissioning and the refocus on putting patients at the heart of the NHS, there is a real opportunity to do things more effectively and much smarter. That means that the consultation must be ambitious, provide strong leadership, and be unambiguous about how the core vision that it reveals can be successfully implemented practically and realistically on the ground across all four home nations.

I have taken the time to read the consultation document, and although it makes many of the right noises, there is a nagging doubt as to whether it meets all the challenges faced by those with rare diseases. I am told by those working in the field of rare diseases that Lord Howe, the Minister who, together with his colleagues in the devolved nations, is responsible for the document, genuinely appears to understand the importance of getting this right. I trust, therefore, that he and they will listen carefully to the submissions they receive, including mine this evening and those of other hon. Members.

So what needs improving? It is clear from my many conversations and my correspondence with clinicians, patient groups and charities working on and living with rare diseases that the ad-hoc nature in which services have developed has led to the principal problems of delays in diagnosis; misdiagnosis; lack of information, communication and awareness; limited research; scarce and unequal access to orphan medicines; poor commissioning and care co-ordination; and a failure to monitor outcomes.

That is not to say that it is all bad news. There is, as ever, some fantastic best practice already taking place. The TREAT-NMD—Translational Research in Europe: Assessment and Treatment of Neuromuscular Diseases—network for neuromuscular diseases, the European Huntington’s Disease Network’s REGISTRY, and the Tay Sachs walk-in clinic at Guy’s hospital are all good examples of innovative, effective and efficient service delivery on which any strategy should seek to build.