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More help for people with rare diseases

As the Health Minister for Wales, I am proud of the United Kingdom and proud of our strong, shared record of supporting and treating people with rare diseases.
Sunday 25 March 2012
Western Mail

Our dedicated healthcare professionals provide care for complex conditions, support strong patient engagement and lead on world class research.

However, we can do better which is why the four nations of the UK have come together to launch the consultation on the United Kingdom Plan for Rare Diseases, to see how we can build on our good practice.

A rare disease is one affecting fewer than 5 in 10,000 of the population. Rare diseases can affect anybody at any stage of their life and can affect physical or mental health or both. They can range from debilitating, life-limiting conditions to manageable conditions that do not affect daily living.

More than 5,000 rare diseases have been identified.  As advances in science and technology allow us to achieve more, we need to ensure our services keep pace.

Sadly, 75% of rare diseases affect children and 30% will die before their 5th birthday. Scientific advances are also enabling more children with rare diseases to live into adulthood and we need to ensure the right care is available as they move from childrens' services to adult services.

Together with the Departments for Health in England, Scotland and Northern Ireland, we have published this Plan for consultation and we hope it will help improve the lives of people with rare diseases and the lives of their families too.

Early diagnosis of a rare condition and better co-ordinated care will help us make small but very important changes to our current practices.

The consultation document recommends using specialist centres to make an exact diagnosis. This will ensure people are treated earlier and, in some cases, could save lives.

The report rightly notes all doctors need the right training to be aware of the possibility of a rare disease and it recommends the care of patients with rare diseases should be better co-ordinated.

Better co-ordination of care can really help patients. For example, by providing a national service for patients with epidermolysis bullosa, an inherited skin condition, through a 'one stop shop', patients would not have to attend separately the dermatologist, the dietician, the chiropodist, the dentist and any other practitioners they may need to see. This can save time, money and inconvenience by avoiding multiple visits to different clinics and hospitals.

This is the first time the UK has had a coherent set of proposals on rare diseases, which outlines how we can build on our strengths through improved co-ordination of services, stronger research and better engagement with patients and their families.  The proposals will benefit patients and help the NHS to be more efficient.

Many rare diseases are of genetic origin and it is vital we embrace the advances in genetics and genomic medicine and ensure the NHS is ready to take advantage of these developments. We need to reduce delays in diagnosing rare diseases and ensure training for all clinicians enables them to be alert to the possibility of a rare disease in their patients and to secure the right diagnostic investigations.

Screening at birth for some rare diseases is one way to avoid delay in diagnosis and there are already national screening programmes for several rare diseases.

The UK National Screening Committee advises me, my counterparts in the other administrations and the NHS in the four UK countries on all aspects of screening.

Training of medical and other staff in the NHS is among the best in the world, however, we cannot be complacent. We need to ensure, through both basic training and continuing professional development, all doctors are alert to the possibility of a rare disease when they see a patient.

Wales is proud to be part of the United Kingdom, which is at the cutting edge of international research in rare disease. Most of the biomedical research centres funded by the National Institute for Health Research (NIHR) are conducting research on rare disease. The UK participates in rare disease research at European level and will be actively involved in the new International Rare Disease Research Consortium (IRDiRC).

A recent study indicated better care of patients with rare neuromuscular diseases could save the NHS £31 million per year by avoiding emergency admissions. This money could be better used in research, looking into the causes and, therefore, the cures for these debilitating diseases.

As Ministers of the four UK Health Departments, we are committed to improving services for people with rare diseases and hope through this consultation document and the Plan, we can significantly raise their profile, leading to better outcomes for the many patients and their families or carers who are affected.



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Lesley Griffiths AM

Minister for Health and Social Services



Health and social care

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