Consett chef with rare genetic VHL disease fears going blind without Belzutifan drug

Katie Cole went to meet Andrew Spenceley, who fears he could go blind due to a tumour on his eye caused by a rare genetic disease

A chef from County Durham who has a rare genetic disease fears going blind if he cannot access a new drug.

Andrew Spenceley, from Consett, has a condition called Von Hippel Lindau (VHL) syndrome, which causes tumours and cysts to grow in certain parts of the body.

Mr Spenceley, who has had two kidney transplants and more than 50 operations, now has a tumour in his eye, which could threaten his sight.

The 53-year-old was diagnosed with the inherited disease when he was seven. It has already killed his father and uncles.

He said: "Throughout time, I've lost everybody in my family. All the males have gone. You deal with it, like I always have. If I need an operation - I've had so many - we do it and we move on. This time they can't operate."

Andrew Spenceley, recovering from a kidney transplant which he had as a result of his condition. Credit: Andrew Spenceley

His surgeons say if they operate on this tumour, he will lose his sight.

The other option is a drug called Belzutifan, a relatively new treatment which could shrink the tumour but is not available in England.

It is already being used elsewhere in the world, including Scotland, the US and Canada.

Mr Spenceley, who is considering moving to Scotland or trying to fund treatment in the US, added: "It's not yet been approved in England. It's a very expensive drug but there's myself and other people who really need it."

VHL affects one in 72,000 people and due to the rare nature of the disease, there are no large studies of cases using Belzutifan in patients with eye tumours.

Mr Spenceley is receiving specialist treatment in Liverpool, where consultants are supporting his efforts to try and get funding for Belzutifan.

Rumana Hussain, a consultant ocular oncologist at Liverpool Ocular Oncology Centre, said: "For the few patients where current treatment options pose a risk of significant sight loss, especially for those who have already lost vision in one eye, this is a high disappointment to clinicians treating these patients who are often young and active and have no satisfactory alternative to this potentially sight saving drug."

Andrew Spenceley has had more than 50 operations and two kidney transplants. Credit: Andrew Spenceley

She said Belzutifan has been shown to be effective in shrinking benign tumours associated with VHL.

The main side effect is mild, with patients becoming anaemic, she added, though there was one report of a patient with a VHL-associated brain tumour developing a bleed into the brain.

Kathryn Chapman, from the charity VHL UK, said: "As a charity, we are aware of a number of patients who are out of hope, and it's offering them hope.

"And if they don't get access to it, I'm certain there's going to be a lot of upset in the community. These patients, many of them have been through multiple surgeries with huge impacts on their lives, on their carers' lives, really deserve this chance."

The National Institute for Health and Care Excellence (NICE), which decides which drugs are available from the NHS in England, published draft guidance in November last year which does not recommend Belzutifan for treating VHL disease in adults.

A NICE spokesperson said the draft guidance was subject to a public consultation and it will consider all comments in developing its final recommendations.

They added: "These are very difficult decisions and NICE recognises that they have real and important implications for patients.

"NICE only publishes its final guidance on the use of a medicine after a very careful consideration of the available evidence and consultation with stakeholders."

A Department of Health and Social Care spokesperson said: “The government is guided by NICE, the independent body responsible for developing authoritative, evidence-based guidance for the NHS in England on the use of new medicines.

“NICE has published draft guidance which does not recommend belzutifan for treating Von Hippel-Lindau disease in adults. We understand this is frustrating for those suffering with this condition. We anticipate that NICE will publish its final guidance shortly.”

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