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February 27, 2015

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» Raising our hands to support Rare Diseases!

Rare Disease Day 2015 Tomorrow, February 28th, is Rare Disease day. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign primarily … Continue reading

March 16, 2010

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» Telling Stories, Understanding Real Life Genetics - just what the doctor ordered!

The Chief Medical Officer (CMO) Professor Sir Liam Donaldson, the UK Government’s principal medical adviser and the professional head of all medical staff in England, has stressed the need for more awareness and understanding of rare diseases in the ‘rare is common’ section in his 2009 annual report on the state of public health published yesterday

Rare diseases, which are often genetic, are defined are those affecting fewer than five in every 10,000 people. There are more than 6,000 rare diseases, so in fact one person in every 17 has a rare disease. The conditions are usually chronic and often start in childhood. They include neurological and metabolic disorders, cancers, muscle diseases, neurological conditions and heart defects.

Professor Donaldson’s findings affirm the need for resources such as the Glamorgan-based, award-winning genetics education website Telling Stories, Understanding Real Life Genetics which has been developed to promote understanding of the impact that genetic conditions have on real life, and their relevance to healthcare practice. Telling Stories draws on real life stories from those with, or at risk of, genetic conditions, many of which are classed as rare diseases, such as Duchenne muscular dystrophy, Rett syndrome, Costello syndrome, phenylketonuria, familial adenomatous polyposis and Fragile X.

In his report, Professor Donaldson highlights that people with rare diseases can often encounter difficulty in obtaining a diagnosis and in accessing the right services and support for themselves and their families, and specifically stresses that as more and more children with rare diseases are surviving into adulthood because of improved treatments and services, their transition to adult services is often unsatisfactory as expert services for adults with rare diseases are lacking.

In an article in The Times yesterday which highlights the story of Katy, who has a rare genetic condition called MCADD (medium chain acyl CoA dehydrogenase deficiency), Sir Liam said that there was an urgent need for more understanding and funding of more than 6,000 rare diseases. “These are the Cinderella conditions,” Sir Liam told The Times. “This is about patchy and fragmented services, poor co-ordination and lack of clinical awareness about the diagnosis. It’s not just poverty of access, but poverty of visibility and representation.”

Sir Liam’s recommendations recognise the need to ‘raise public awareness of this neglected group of diseases’ and will include a national clinical director for rare diseases to oversee the development of clear standards and approaches to treatment, particularly to address problems encountered by sufferers moving from child to adult services. He will also propose national registers, to improve surveillance, planning and research.

February 24, 2010

Genomics News
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» Rare disease day marked by reception at Welsh Assembly this evening

February 28th is Rare Disease Day and to mark the event, the Welsh Assembly is hosting a reception this evening at the Senedd.

So far, between 6000 – 8000 rare diseases have been identified, affecting around 1 in 17 people in the UK. So whilst individual diseases may affect less than 5 in 10,000 people, collectively, they are not rare at all. Around 80% are genetic in origin, and there is no cure for the great majority. One of the purposes of Rare Disease Day is to provide ‘one voice’ for this sizeable patient group.

Dr Rhian Morgan, Project Officer for Telling Stories, is attending on behalf of the GPU and NHS National Genetics Education & Development Centre in Wales. Many of the stories on our website are from people or families affected by a rare condition and there is often a common thread through their stories as they ask for their voices to be heard.

A European survey in 2003 of patient groups highlighted the importance of being given information about the rare condition. Lack of information and the absence of a diagnosis were key obstacles to practical support, leading to a sense of isolation. Families often have to struggle to get the support and information they need.

As advances in research shift the focus of genomic healthcare onto the common complex conditions in which genetics plays a significant part, it is important to remember that those affected by rare diseases continue to need care and support from health professionals who, whilst not necessarily knowing about the individual condition themselves, do know where to go to get information.