Three and a half million people in the UK with rare diseases are guaranteed the best treatment.
The updated UK Rare Disease Framework has been released by the health departments of the last four UK countries.
At a virtual meeting hosted by the UK’s Genetic Alliance, health ministers will discuss plans to improve the health outcomes of people living with diseases that affect less than 1 in 2,000 individually.
Ola Fakbohun of Sheffield has a benign tumor called Desmoid type fibromatosis, which affects about 60 people in the UK.
Isolation and lack of information about rare diseases exacerbate the problems caused by this condition, he says.
“Having a rare disease, being alone with that disease and trying to find others who can understand what you are doing has a psychological impact,” he said.
“When a surgeon tells them to cut your hand bits, it’s not a treatment, they can continue cutting your hand bits, which means where do you go with that information?”
Lisa Beaton, whose 12-year-old daughter Amelia has a debilitating neuromuscular name, says governments should encourage the healthcare industry to work together for Amelia’s sake.
“I want to develop an integrated approach to her care and know where she can access help and support,” she said.
“As she gets older, she asks more difficult questions and needs more control and entitlement in her own life.”
Lord Bethel, Parliamentary Under-Secretary-General for Health and Social Security invention, signed the four-nation framework, published in January, by Robin Swann, Minister of Health for the Northern Ireland Administration, Vaughan, Minister of Health and Social Services in the Welsh Government, and Myri Kaggen, Minister of Public Health, Sports and Welfare in the Scottish Government.
It promised to “develop and publish a plan outlining the steps they will take to implement the framework, in a way that is most relevant to their population and health system.”