RARE DISEASES
It’s estimated that around 437,000 people – approximately eight per cent of the population of Scotland – is affected by a rare 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 Danlos Syndrome, which affects one person in
40
scottishpharmacist.com
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.
‘In developing an action plan for Scotland,’ the Scottish Government said in a statement, ‘we will work closely with the rare disease community to ensure their needs are appropriately reflected across wider government policy too, including mental health and social care and ensure that all of these commitments are actionable and measurable.
‘We will also undertake extensive engagement with the rare disease community to ensure the patient voice remains at the heart of the new Action Plan.
‘We remain committed to making sure that the lives of people living with a rare disease and their families continues to improve by ensuring access to the best possible patient centred care and support, so that patients can benefit from safe and effective healthcare in Scotland.’
EIGHT OUT OF TEN RARE DISEASES HAVE A GENETIC CAUSE, WITH 99 PER CENT OF GENETIC CONDITIONS CLASSED AS RARE
Page 1 |
Page 2 |
Page 3 |
Page 4 |
Page 5 |
Page 6 |
Page 7 |
Page 8 |
Page 9 |
Page 10 |
Page 11 |
Page 12 |
Page 13 |
Page 14 |
Page 15 |
Page 16 |
Page 17 |
Page 18 |
Page 19 |
Page 20 |
Page 21 |
Page 22 |
Page 23 |
Page 24 |
Page 25 |
Page 26 |
Page 27 |
Page 28 |
Page 29 |
Page 30 |
Page 31 |
Page 32 |
Page 33 |
Page 34 |
Page 35 |
Page 36 |
Page 37 |
Page 38 |
Page 39 |
Page 40 |
Page 41 |
Page 42 |
Page 43 |
Page 44 |
Page 45 |
Page 46 |
Page 47 |
Page 48
