Rare Diseases

There are between 5,000 and 8,000 diseases which are classified as ‘rare diseases’. Whilst each only affects less than 0.1% of the population, together they affect 3 million patients. There are problems common to patients across all rare diseases – principally diagnosis, co-ordination of care, and access to information and support.

Rare diseases was a clinical priority from 2012 – 2015, working in partnership with the Motor Neurone Disease Association to draw together existing resources to help GPs in the diagnosis and management of patients with any rare disease but with a primary focus on motor neurone disease (MND). In addition they developed new resources to increase GP awareness and knowledge of MND.

Impact of the Rare Diseases Clinical Priority [PDF]

Background and Strategy

In November 2013 the Department of Health published a strategy paper for rare diseases, particularly focussed on improving access and care through integrated care plans and supporting education and training to improve recognition of rare diseases.  

Department of Health Rare Diseases Strategy 2013

Motor Neurone Disease (MND) Diagnosis Tools

MND is a devastating rare neurological disease causing progressive motor weakness. Most GPs will only ever look after one or two patients with MND, meaning that there is often a significant delay in diagnosis (12-18 months depending on the research).

These resources act as an easy reference tool to prompt GPs to consider MND as a possible diagnosis in similar cases.

Red Flags toolkit [PDF] 
Increase your awareness of MND or remind yourself of features suggestive of it when you are struggling to diagnose a patient with odd progressive symptoms. Available to download and print. 

Painless, progressive weakness: could this be motor neurone disease? 
This power point presentation follows the structure of the red flags tool and is available to download and use in educational groups.

Easily missed: motor neurone disease
Published in The BMJ, this article looks at the challenges of picking up MND in primary care.

E-learning
This e-learning module looks at clinical presentations, highlights how GPs can improve detection of the disease, and offers valuable advice on the palliative care needs of people with MND.

 

Reports

Developing Clinical Bioinformatics Training in the NHS - a timeline for action
Report of the clinical bioinformatics task and finish group - February 2015. This is particularly useful resource for anyone contemplating a career in bioinformatics.

 

Useful Links

www.orpha.net
European wide website listing key information for each condition including details of key specialists.

www.cafamily.org.uk/medical-information 
Contact a Family focus on support for families with children with disabilities. This brilliant resource lists validated and up to date information on hundreds of conditions from Kawasaki disease to muscular dystrophy. They also provide excellent support for patients and their families. 

www.geneticseducation.nhs.uk  
An educational resource from the NHS National Genetics and Genomics Education Centre with e-learning modules and one page summaries on individual conditions.

www.raredisease.org.uk 
Website for The National Alliance for people with rare diseases, including links to strategy papers.

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