Patients with Rare Diseases

Feryal Clark Excerpts

Thursday 9th March 2023 Westminster Hall

[Feryal Clark (Enfield North) (Lab)]

It is a pleasure to serve under your chairmanship this afternoon, Mr Sharma. I start by paying tribute to the hon. Member for Strangford (Jim Shannon) for securing this debate today and for all the information he provided; I feel a lot more knowledgeable about the variety of rare conditions than I did before I came to the debate. He covered quite a lot of important statistics that we should all take notice of. I also pay tribute to my hon. Friend the Member for Blaydon (Liz Twist), chair of the all-party parliamentary group for rare, genetic and undiagnosed conditions, for her contribution.

As has been set out, a rare disease is generally considered as one that affects fewer than one in 2,000 people. While the occurrence of individual rare disease is low, it has been estimated that around 3.5 million people in the UK are living with one of the more than 7,000 rare diseases. The hon. Member for Strangford and my hon. Friend the Member for Blaydon both noted that 75% of these diseases affect children, and more than 30% of children with rare disease die before their fifth birthday. That is truly devastating.

With that in mind, I welcome the Government’s 2023 rare diseases action plan, but I have a few questions about the detail, starting with screening and early diagnosis. I was pleased to see the Government focus on that area in the action plan, which suggests that the NHS is exploring the implementation of whole genomic sequencing to screen for up to 200 rare genetic conditions in newborns. That is fantastic news.

Will the Minister clarify whether that scheme will be accepted and be implemented? As we have heard this afternoon, funding is a major issue in this area. If this plan is going to be implemented, will the Minister tell us how it will be funded? There is a lack of clarity in the action plan.

Early diagnosis can prevent and mitigate many of the complications associated with rare diseases. Therefore, it is imperative that such a scheme is made available as soon as possible. We heard from the hon. Member for Strangford on MFS, and from my hon. Friend the Member for Blaydon on SMA. If these conditions are diagnosed early on, while there may not be a cure, there can be treatment. That is why it is really important to get more information about this scheme as soon as possible.

The 2023 action plan also states that changes to the UK National Screening Committee have helped to improve how decisions are being made on newborn screening. Will the Minister clarify when those changes will come into effect and be actioned? I do not want to look back, but if we look back to 2021, the UK screened for just nine conditions—so hon. Members will understand why I was excited to see the 200 figure. We screened for only nine conditions in 2021, whereas Iceland and Italy screened for more than 40. Will the Minister update us on how many conditions are being screened for in the UK and whether the number has increased from nine since 2021?

Secondly, let me focus on workforce challenges in the rare disease action plan, which my hon. Friend the Member for Blaydon highlighted as one of the key areas for the rare diseases community. A recent survey by Rare Disease UK found that nearly half of all respondents did not feel that they were being given enough information or support about their condition and the care that they needed post diagnosis. It is clear that we need to scale up our wonderful healthcare professionals to equip them with skills and the awareness of rare diseases. For some people, as we have heard, it can take up to five years on average to get the correct diagnosis.

That brings me to the Lily Foundation story, which particularly touched me. I met Lily’s mother at one of the events organised by my hon. Friend the Member for Blaydon. Lily’s mother set up Lily’s Foundation, and it was a delight to speak to her. She is a part of the mitochondrial research campaign. Lily was diagnosed with mitochondrial disease when she was born in 2006; her mum said that the family felt shocked, isolated and devastated. They researched for information and support, but found none. There is no cure for mitochondrial disease—MD—and Lily sadly passed away when she was only eight months old. Although there is no cure, there is treatment, which focuses on relieving symptoms rather than treating them. According to NHS England, many aspects of MD can be prevented or helped by early diagnosis, before symptoms start to show.

The Government’s action plan states that it seeks to address the awareness of rare diseases by expanding digital educational resources on rare diseases for healthcare professionals. How will those programmes be delivered to healthcare professionals to ensure that we actually raise awareness? On the workforce, 7 million people are waiting for months—even years—for treatment, yet the Government cut the number of medical school places this summer. Given the need for an increased amount of care for rare disease patients, as well as more focused care, how do the Government plan to increase the number of available staff to support the aims of the 2023 action plan and wider strategy?

We heard a lot about the need for funding for research into rare diseases, and I want to focus on the Government’s £340 million innovative medicines fund. That was launched last year, and it is designed to provide for quicker access to the most advanced life-saving treatments. Why has it not yet been used? The Association of the British Pharmaceutical Industry has significant concerns that the design of the fund makes it difficult for companies to use. Will the Minister update us on whether the Government are addressing the industry’s concerns about the fund? If the fund is available, it should be used to find new treatments for rare diseases.

Finally, the indicators for measuring the success of the rare disease action plan have not yet been specified, so I would be grateful if the Minister set out when they will be specified. Without them, it will be impossible to assess whether care needs have been met or accurately measured by improvements in health outcomes.

This has been a great debate, and I thank both the hon. Member for Strangford and my hon. Friend the Member for Blaydon for continuing their campaign in this area. [Interruption.] Sorry, and the hon. Member for Edinburgh North and Leith (Deidre Brock)—I am slightly forgetful at the moment. I know that the Members present are determined to ensure that the voices of patients with rare diseases are heard, and that children and adults have access to the best knowledge, diagnosis and treatment available. I look forward to hearing from the Minister.