A new rare diseases action plan for England has been published by the UK government to enable those living with a rare disease to receive better care and treatment, fairer access to testing and continued support.
The plan builds on last year’s efforts, which saw the development of digital tools to allow healthcare staff easy access to information on rare diseases, as well as the diagnosis of 1,000 new complex cases thanks to advances in genomic research.
Developed in conjunction with the rare diseases community, the latest framework lists 13 actions focused on faster diagnosis, increased awareness of rare diseases among healthcare staff, better coordination of care and improved access to specialist care, treatments and drugs.
As part of the efforts, evidence will be collected on health inequalities faced by people living with rare diseases so they can be addressed by health services, such as those who live in areas without specialist centres.
Data sharing will also be increased to allow for a fuller picture of how people are tested for genetic diseases across England, and it will be made easier for patients with rare diseases to participate in research, should they choose to do so.
One in 17 people will be affected by a rare disease at some point in their lives, such as spinal muscular atrophy, haemophilia A, epidermolysis bullosa or Huntington’s disease.
Health minister, Helen Whately, said: “Rare diseases are individually rare but collectively common, affecting 3.5 million people in the UK.
“We’ve made huge progress in the last year…but there is still more to do. Our rare diseases action plan will reduce health inequalities, help people participate in research and join up specialist services better for patients.”
An example of a rare disease is Wolfram syndrome, a rare inherited condition characterised by diabetes insipidus, childhood-onset diabetes mellitus, a gradual loss of vision and deafness.
Commenting on the impact the new plan will have on this patient group, Philippa Farrant, adult support coordinator at Wolfram Syndrome UK, said: “I have been involved with the rare disease framework as a patient representative on the delivery group from when the report was first being written.
“For an orphan rare disease community that I represent, with less than 100 people in the country, this action plan should mean a better quality of life, more information and more awareness to professionals so that our community is supported better and able to access all services required managing their complex condition.”