RARE DISEASES
It is estimated that more than 100,000 people in Northern Ireland – a staggering one in 17 people – is affected or impacted by a rare condition or disease.
N
ow, a new framework has been launched in the United Kingdom to both raise awareness of rare diseases
and to improve the lives of people impacted by such conditions.
The new framework, which was launched by Health and Social Care Secretary, Matt Hancock, sets out four priorities across England, Wales, Scotland and Northern Ireland including: • Helping patients get a final diagnosis faster • Increasing awareness of rare diseases among healthcare professionals
• Better coordination of care • Improving access to specialist care, treatments and drugs
• A rare condition is defined as one which affects one person in 2000 or fewer.
At present, there are more than 7000 known rare conditions or diseases worldwide. A rare condition is defined as one which affects one person in 2000 or fewer.
Diseases on the rare condition spectrum range from ‘common rare’, such as Hypermobile Ehlers
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Danlos Syndrome, which affects one person in 2,000, to the ‘ultra-rare’, such as Fibrodysplasia Ossificans Progressiva Syndrome, which affects one in two million, with more than 6,000 other rare conditions in between.
Eight out of ten rare diseases have a genetic cause, with 99 per cent of genetic conditions classed as rare. The diseases are often chronic and life-threatening.
The diseases tend to be characterised by a wide diversity of symptoms and signs that vary not only from disease to disease, but also from patient to patient suffering from the same disease. Relatively common symptoms can often hide underlying rare diseases, leading to misdiagnosis.
Rare diseases tend to start through unusual patters of common symptoms that can be hard for a GP to recognise. On many occasions this can lead to trips to multiple specialists before a final diagnosis reached. Indeed, it is estimated that an accurate diagnosis of a rare disease can take, on average, more than four years.
The new framework – The UK Rare Diseases Framework - will raise awareness of rare diseases, speed up diagnosis and improve care and treatment. It is anticipated that millions of people with rare diseases, such as Huntingdon’s disease or cystic fibrosis, will benefit from the framework.
‘People with rare disease deserve to get the best possible access to care and treatment,’ Matt Hancock said at the launch of the new framework. ‘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.’
EIGHT OUT OF TEN RARE DISEASES HAVE A GENETIC CAUSE, WITH 99 PER CENT OF GENETIC CONDITIONS CLASSED AS RARE
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