Rare Diseases Strategy

Baroness Ritchie of Downpatrick Excerpts

Tuesday 28th March 2017 Westminster Hall

[Ms Margaret Ritchie (South Down) (SDLP)]

It is a pleasure to serve under your chairmanship, Mr Pritchard. I congratulate the hon. Member for Bath (Ben Howlett) on his thoughtful contribution and on securing this important debate. He has given leadership on the issue, drawing on his professional field and as chair of the all-party parliamentary group, for which we are particularly grateful.

Those who suffer from rare diseases struggle for recognition, funding and resources, but rare diseases collectively are not rare; there are over 6,000 of them, and many Members here have constituents who are among the 3 million people throughout the UK affected by such diseases. The range of rare diseases is wide, but they have in common an impact on the lives of those who suffer from them and on those of their families and carers. In October last year, I chaired the annual general meeting in Northern Ireland on Behçet’s disease, a very rare disease that affects suffers with listlessness and muscular atrophy. They cannot get close to a level of diagnosis that comes with a clear medical plan for dealing with their particular disease.

Having a rare disease presents its own unique challenges. The testing experience of ill health is exacerbated by the difficultly of diagnosis and the subsequent struggle to access medicine and treatment. Other sufferers of rare diseases in my constituency have told me of the need for a co-ordinated approach to diagnosis and implementation of a treatment plan across all medical disciplines, which is sometimes sadly lacking.

I come to the issue from a Northern Ireland perspective. The hon. Member for Bath referred to an implementation plan for the nations and regions within the UK. A constituent who has a rare disease, as does her son, suggested to me that they originally received a considerable level of co-ordinated treatment here in Great Britain, but not in Northern Ireland. That issue must be addressed under our own singular plan.

Of course, proving the safety and effectiveness of treatments and medicines is an added difficulty in rare diseases with complex data, or perhaps even a dearth of data. I echo the vision of the Northern Ireland Rare Disease Partnership: no one should be disadvantaged because of the rarity of their condition. People with rare diseases should be able to expect access to the safe, effective and affordable drugs and treatments that they need.

Other hon. Members have mentioned muscular dystrophy in their interventions, specifically Duchenne muscular dystrophy, which affects more than 2,500 children and adults in the UK. Assisted ventilation is required to help older Duchenne patients to breathe, which necessitates 24-hour care, and some patients undergo a tracheostomy procedure. I have heard worrying reports that medical centres that conduct clinical trials for Duchenne muscular dystrophy and other muscle-wasting conditions are facing a lack of capacity and resources and are having to turn studies away, which risks thwarting the development of promising new drugs and the search for effective treatments that the hon. Member for Bath referred to.

As a Member of Parliament who represents a constituency in Northern Ireland, I was pleased that the then Northern Ireland Executive published their rare diseases implementation plan in October 2015, some two years after the report here was published. The plan identified four priorities: Northern Ireland’s participation in the 100,000 Genomes Project; a commitment to review communications and information; a review to establish a Northern Ireland rare diseases registry; and training needs analysis for medical professionals. The next steps, of course, are to monitor the outcomes of those reviews and to listen closely to the people who are directly affected by the actions of the Department of Health. One of my principal regrets is that we do not currently have a Northern Ireland Executive; civil servants are monitoring the issues but do not have the authority or directives to drive policies forward.

The founding principles of the NHS—that care should be free at the point of delivery and in accordance with need—must be observed. This debate is important because we need to find ways to ensure that those who suffer from rare conditions, for which proving safety and effectiveness is not easy, are not disadvantaged simply because their condition is rare or because the statistics are complicated. The Northern Ireland Rare Disease Partnership told me yesterday that it is not convinced that the latest efforts in that regard from NICE and NHS England are the final answer or even a good answer. It wants NHS England and NICE to look at the testimony of patients who are directly affected, and think about what “need” actually means in today’s world. It cannot just mean paracetamol for headaches; it must mean life-saving or life-altering treatment.

I fear that delays in the progress of implementation will be another unacceptable result of the political situation that we currently face. It is important that we have a political driver—a political authority—to implement our rare diseases strategy fully. I will continue to be guided by the judgment and first-hand knowledge of constituents who have a rare disease, and to measure the success of our local strategy by their experience of how it is implemented.