UK Rare Diseases Framework

Part of the debate – in Westminster Hall at 5:28 pm on 24th March 2021.

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Photo of Kevin Hollinrake Kevin Hollinrake Conservative, Thirsk and Malton 5:28 pm, 24th March 2021

It is a pleasure to speak with you in the Chair, Mrs Miller. I wish to speak about neurofibromatosis, which for obvious reasons is more commonly known as NF1. As far as rare diseases go, it is pretty common. It affects one in 2,700 people born today, and it is more common than cystic fibrosis, Duchenne muscular atrophy and Huntingdon’s disease put together. I particularly want to echo the words of Liz Twist, who made an excellent opening speech, and I really appreciate the opportunity to speak on these issues.

My focus is on diagnosis and monitoring. I came across NF1 because the Watts family in my constituency had a son, Chris, who had the condition since he was born. He was 31 when he took his life, having managed to pursue a career and live independently. The thing about NF1 is that it can be mild, but then it can become quite severe. He had a tumour that started to grow and was painful, but he was nevertheless told, “Nothing to worry about; it’s cosmetic.” Sadly, it ended up being malignant and he passed away. I think this illustrates the fact that we have a divided approach to NF1. It is seen as either complex or non-complex. For non-complex, there is very little monitoring of what happens, even though it can become complex, and there is very little treatment for the complex conditions other than a couple of specialist treatment centres in London and Manchester. However, there is no clear pathway for one assessment—the non-complex to the complex.

I am very grateful to Vanessa Martin at the Childhood Tumour Trust. They have set up some simple changes they would like to see, and I urge the Minster to engage with them to implement those changes.