UK Rare Diseases Framework

Part of the debate – in Westminster Hall at 5:15 pm on 24th March 2021.

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Photo of Tom Randall Tom Randall Conservative, Gedling 5:15 pm, 24th March 2021

It is a pleasure to serve under your chairmanship, Mrs Miller. I congratulate Liz Twist on securing the debate. It is a welcome debate and an opportunity to discuss those rare diseases that, by their very nature, do not have the large advocacy organisations to speak about them. This week I received a mailshot from one of the UK’s leading cancer charities. While that is a welcome and worthwhile effort, rare diseases—those that affect fewer than one in 2,000 people—do not have those resources and it is important that we speak about them.

I welcome the publication of “The UK Rare Diseases Framework”, which has four priorities. I will speak briefly on priorities 2 and 4. Priority 2 is to increase awareness of rare diseases among healthcare professionals, which I think is crucial. I am co-chair of the all-party parliamentary group on axial spondyloarthritis, which is not a rare disease—it affects one in 200 people—but the eight-year delay in diagnosis has been attributed, in part, to a lack of knowledge by healthcare professionals. I fully support any increased awareness of rare diseases.

Priority 4 is to improve access to specialist care, treatments and drugs. As others have said, I have seen that myself with phenylketonuria, which I had not heard of until I met the parents of Hurley, one of my youngest constituents. They came to see me to discuss Hurley’s condition. PKU affects fewer than one in 10,000 babies. As we have heard, it means that the body cannot process protein, which results in a severely restricted diet.

The drug Kuvan has been available but was not widely licensed despite promising results. I welcome the news that Kuvan is now available, but it is not available for over-18s. That causes understandable concerns not only for adults, but for those in their late teens who are approaching a point when their treatment will become unavailable. I will add my name to those calling for the wider licensing of Kuvan for those with PKU.

This is a welcome debate and there is a responsibility on all MPs to speak up for their constituents who have rare diseases, to make their case heard. I look forward to continuing to do so with colleagues.