UK Rare Diseases Framework

Alex Norris Excerpts

Wednesday 24th March 2021 Westminster Hall

[Alex Norris (Nottingham North) (Lab/Co-op)]

It is a pleasure to serve under your chairmanship, Mrs Miller. I congratulate my hon. Friend the Member for Blaydon (Liz Twist) on securing the debate, and on the case she made and her inspiring work championing those with rare diseases through the all-party parliamentary groups that she has chaired, currently the APPG on rare, genetic and undiagnosed conditions and previously the APPG for phenylketonuria. She set out a very strong case. She started by saying that we have been here before. If we followed some of the suggestions that she made, it would make sure that we are not here forever.

I want to pick up on the point around childhood screening. I hope the Minister will address the points on the report and the outcome of the strategy. That learning is really important.

It is hard not to be struck by the wide range of conditions that colleagues raised—NF1, raised by the hon. Member for Thirsk and Malton (Kevin Hollinrake); thalassaemia, raised by my hon. Friend the Member for Enfield, Southgate (Bambos Charalambous); motor neurone disease, raised by the hon. Member for Northampton South (Andrew Lewer); and muscle wastage, raised by my hon. Friend the Member for North Tyneside (Mary Glindon). The right hon. Member for Kingswood (Chris Skidmore) and the hon. Members for Gedling (Tom Randall) and for Darlington (Peter Gibson) raised PKU, as did my hon. Friends the Members for Neath (Christina Rees) and for St Helens South and Whiston (Ms Rimmer). They made important points around welfare reform and the accessibility of Kuvan.

I hope that the Minister will also cover the more general points around NICE, made by the hon. Member for Peterborough (Paul Bristow) and on the life sciences sector deal, made by my hon. Friend the Member for Cambridge (Daniel Zeichner).

The debate tells us that while rare diseases are rare individually, collectively they can affect up to one in 17, so they are not rare at all. That is more than 3.5 million people in the UK. We will all know someone with a rare disease and we will all have constituents for whom we need to advocate. Rare diseases can be life-limiting and life-threatening. As was mentioned, three quarters of them affect children, and sadly more than 30% of children with a rare disease die before their fifth birthday. That is a truly heartbreaking statistic. With that in mind, we welcome the Government’s plans, but I want to test some of the detail.

On the first priority relating to diagnosis, I am keen to know what the Government’s plans are in greater detail. Will the scope of newborn screening in the UK be increased? Many countries screen for more than 20 conditions; indeed, Iceland and Italy screen for more than 40. Here in the UK, we screen for nine. Will that be revisited? How do the Government intend to measure success in diagnosis more broadly?

On the second priority, awareness, we need to skill up our wonderful healthcare professionals. I find that, whoever I speak to—especially those whose diseases were not diagnosed at a very young age—lack of awareness often prevented diagnosis and access to the correct treatment and care pathways. A couple of weeks ago I met a wonderful group of people from the Pernicious Anaemia Society who do great work for people struggling with pernicious anaemia. As we went around the room—virtually, of course—it was striking that everybody had been diagnosed with something different at some point, and often multiple things, incorrectly. What will we do about that? Do the Government intend for rare diseases to have a larger part in undergraduate courses? Will they be part of continuous professional development for already qualified medical professionals? More importantly, because there is no new money with this strategy, from where will the resourcing come to increase training and develop additional tools?

I want to touch on priorities three and four on improved co-ordination and access to care treatment and drugs. I will lean less on the latter, which was covered by others, but, on priority three, well co-ordinated care is crucial to patients and their families. Last year, a Genetic Alliance UK report found that more than 70% of respondents were responsible for their own or a family member’s care. That means reduced work—or giving up work—and reduced education and other opportunities that the rest of us take for granted. We need a family-centred holistic and equitable approach to care. It would not change everything, but it would make their lives much better. Again, I know the Government have committed to that, but how will they measure progress?

Finally, on understanding the action plans, health is devolved and it is important that we take the different nations approach, but when do Ministers intend to hear back? When do they think they will hear back? What will we do to ensure that the care pathways are properly co-ordinated?

I will finish there to give the Minister a chance to address all the points raised. This has been a great debate, and hopefully those with rare diseases, who do not always think their voices are heard, will feel that today they have been heard and not missed or forgotten. If we come together, we can do something really special in this space.