Rare diseases action plan unveiled in Scotland

A new strategy has been set out to combat rare diseases estimated to affect more than 300,000 people in Scotland, said the Scottish Government on Wednesday.

A rare disease is defined as a life-threatening or debilitating condition that affects fewer than five people in 10,000. There are currently around 8,000 such recognized conditions, it said.

Titled "It's not rare to have a rare disease," the report published on Wednesday is the Scottish Government's first plan of action to combat rare diseases. It was drawn up following a consultation with patients and clinical experts who were asked for their views on the treatment of rare diseases in Scotland.

It sets out a series of suggested actions to bring about improvements in services and to empower people affected by rare diseases. The report also suggests ways to improve prevention, diagnosis and early intervention.

Scottish Minister for Public Health Michael Matheson said that the report demonstrates "although these diseases are individually rare, the sheer number of different conditions means that the total number of people affected is surprisingly large."

"That is why we have drawn up this implementation plan, so we can really focus our efforts on improving services for people who are living with rare diseases," he noted, stressing the importance of early and correct diagnosis.

Each British nation is developing their own plan of action as part of the British Rare Disease Strategy, which in turn forms part of a Europe-wide drive to improve rare disease services.