There are more than 3.5 million people in the UK who are living with rare diseases, and the new Rare Disease Framework which was designed with the help of those living with rare diseases, aims to improve their lives by speeding up diagnosis, improve treatment and care and increase awareness.
All four nations of the UK agreed and signed the UK Rare Diseases Framework. The new framework was built on the previous strategy and was developed in consultation with people living with rare diseases.
Rare diseases are often very hard to diagnose as most of the common symptoms are not easily recognized by GPs. Patients must go through many visits to multiple specialists before being accurately diagnosed. This process can take years and significantly impact patients, their loved ones as well as the NHS.
Four priorities have been set by the new framework and are applicable across England, Wales, Scotland and Northern Ireland:
1. Ensuring patients get a diagnosis faster
2. Increasing the awareness of rare diseases among doctors
3. Improved coordination of care
4. Improving access to medical specialists, treatments and drugs
Health and Social Care Secretary, Matt Hancock said:
“People with rare disease deserve to get the best possible access to care and treatment. Many spend years trying to discover what is wrong so it’s essential we ensure we take every step to accelerate diagnosis and our brilliant health and social care workforce have a thorough understanding of those living with rare diseases.
“The UK Rare Diseases Framework has been developed in close collaboration with people with a lived experience. It will build on the UK’s exceptional strength in life sciences, our genomic capability, and of course the huge benefit of having the NHS, to shape our policies on rare diseases in the years to come and improve the lives of so many people.”
1 in 17 people in the UK are living with a rare disease- a staggering 3.5 million people.
As research advances, it is estimated that there are more than 7,000 rare diseases which are continually being identified. The more well known among them include cystic fibrosis, systemic scleroderma, Ehlers Danlos syndromes and Huntington’s disease. There are many more rare diseases that are not well known or understood and that is why raising awareness is one of the main priorities of the Framework.
Health Minister, Lord Bethell said:
“I want the experiences of those living with a rare disease to shape the priorities of government to make sure our policies work for them. We can harness the potential of new technologies, including genomics, to support earlier detection and faster diagnosis of disease, tailor and target treatments
“With such a vast range of rare diseases out there, it is hugely important the rare disease community was at the centre of designing the UK Rare Disease Framework.”
Baroness Blackwood launched the National Conversation on Rare Diseases survey which and received 6,293 responses which included 5,000 patients and families. The National Conversation’s aim was to identify the challenges faced by the people working and living with rare diseases.
Jayne Spink, CEO of Genetic Alliance UK said:
“We welcome the publication of this Framework and look forward to working with the four nations of the UK to develop action plans to deliver its aims. A framework for rare disease policy is necessary now more than ever.
“We have powerful genomic tools and exciting research breakthroughs on the horizon that are eagerly anticipated by people living with rare conditions. We hope that this framework can build the pathways that will allow these breakthroughs to realise their full potential in the NHS, across the whole of the UK.”
Haseeb Ahmad, President of the Association of the British Pharmaceutical Industry (ABPI) said:
“Today’s strategy sets out a welcome ambition for how people with rare diseases can get a fast diagnosis and access to treatments they desperately need.
“Cutting edge research means that there will be even more exciting, new treatments developed for rare disease patients. We look forward to continuing our work in partnership with Governments across all four nations to make the ambition of this framework a reality for people with rare diseases and their families.”
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