New drug gives hope to man with inherited disease

John Hepworth is one of about 800 people in England who lives with Von-Hippel Lindau disease

A man has been given new hope against an inherited disease that is thought to have affected at least four generations of his family.

John Hepworth, 64, was diagnosed with Von-Hippel Lindau disease (VHL), a condition that causes tumours in major organs, in 2013.

Belzutifan, a take-at-home pill designed to shrink the tumours and help patients avoid surgery, will be available for a number of people with VHL through NHS England's Cancer Drug Funds.

Mr Hepworth, from Retford in Nottinghamshire, is one of those people set to benefit from the drug being available on the NHS, which he said gave him "tremendous hope".

Mr Hepworth says living with VHL is difficult for himself, his wife Janice and their family

Mr Hepworth's father, grandfather and great-grandfather all died younger than the age of 50.

"What I've gone through over the last 10 years, dad and grandad went through exactly the same thing," he said.

"The pattern is virtually identical.

"[With] great-grandad, we can't be absolutely certain but we know he was ill when he took his own life."

With no children or other relatives who have tested for the faulty gene, Mr Hepworth is confident the disease in his family ends with him.

"When anything happens to me, I'm taking it with me and that's the end of it," he said.

"Everything that's gone on for the last century and more for my family will go with me."

Mr Hepworth was 53 when genetic testing revealed he had VHL and he soon had surgery to remove one of his kidneys.

Since then, he has had regular scans to monitor the tumours, which have grown on six of his organs.

He added: "The time between having the scans and receiving the results, you're wondering all the time what's going to happen.

"You know your life can change at any time. It's a difficult thing, not just for me but for [my wife] Janice and my family."

George Hepworth (pictured), John's grandfather, died aged 48, while his son died aged 45

NHS England said in clinical trials of belzutifan, 95% of patients did not experience any growth in their tumours within two years of taking the treatment, and 56% of patients' tumours shrunk.

About 100 people could benefit from the drug in the first 12 months of the five-year programme, with about 50 people per year thereafter.

Prof Peter Johnson, NHS national clinical director for cancer, said: "This inherited illness is a shadow which hangs over entire families, who live with the fear of tumours growing and needing major surgery on many occasions.

"[Belzutifan] promises to improve the quality of life not just for those facing this disorder, but their families and carers, too, and is a huge step forward in the treatment of this disease."