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More help for people with rare diseases

More help for people with rare diseases

News Release issued by the COI News Distribution Service on 29 February 2012

Earlier diagnosis of a rare condition and better coordinated care will help improve the quality of life for people with rare diseases and their families, according to the first ever UK plan on rare diseases, published for consultation today by the Department of Health.

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. A rare disease is one that affects fewer than 5 in 10,000 of the population.

The UK already has a strong record of supporting and treating people with rare diseases through dedicated healthcare professionals who provide care for complex conditions, world class research and strong patient engagement. This plan will build on this.

The consultation document:

• recommends using specialist centres to make exact diagnosis - this will make sure people are treated earlier and in some cases this could save lives;
• acknowledges that all doctors should have the right training to be aware of the possibility of a rare disease; and
• recommends that the care of patients with rare diseases should be better co-ordinated.

Better co-ordination of care can really help patients. For example, the national service for patients with epidermolysis bullosa, an inherited skin condition provides a ‘one stop shop’ so that patients do not have to attend separately to see the dermatologist, the dietician, the chiropodist, the dentist and so on. This saves patients time, money and hassle by avoiding multiple visits to different clinics and hospitals.

Health Minister Lord Howe said:

“The UK has a good story to tell about supporting and treating people with rare diseases. But we know the challenges people face and that there is always room for improvement.

“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.

“These proposals will benefit patients and help the NHS to be more efficient and co-ordinated, as well as save money. A recent unpublished study has shown that better care of patients with rare neuromuscular diseases could save the NHS £31 million per year by avoiding emergency admissions.”

Bruce Keogh, NHS Medical Director said:

“I welcome the publication of the consultation document on rare diseases. It clearly demonstrates the importance the Government attaches to the treatment of patients with rare conditions. In England, much of the implementation of the final plan will be for the NHS Commissioning Board to take forward in its role as single, national commissioner for specialised and highly specialised services.”

Alastair Kent OBE, Chair of Rare Disease UK said:

“Rare Disease UK is delighted to welcome the launch of this consultation. Patients affected by rare diseases and their families will be pleased to see recognition of their needs for high quality healthcare being addressed in a systematic framework. A UK rare disease plan offers the opportunity to ensure a timely response by the NHS to patients’ needs, and to ensure the effective integration of services and the use of scarce knowledge and resources whilst creating a framework for sustained research and development of innovative solutions to long standing needs.”

John Murray, Director of Specialised Healthcare Alliance said:

“We welcome this consultation and look forward to considering the detail in the broader context of specialised services”.

Dr Jane Collins, Chief Executive at Great Ormond Street Hospital said:

“We welcome the consultation into rare diseases. Taken together, rare diseases are a significant issue in children’s health. 75% of rare diseases affect children and 30% of children with a rare disease die before their fifth birthday. Children with rare conditions are a significant part of our work, at Great Ormond Street Hospital, both in terms of the numbers we see and the research we do. Developments in medical science and technology mean that we need to press forward with research into diagnosis and better treatments.”

This is a UK wide consultation undertaken by the Department of Health on behalf of all UK health administrations. The consultation on rare diseases has been launched today following the European Council’s recommendation that every member state of the EU should develop a national strategy on rare diseases. Responses to the consultation will inform the final plan, which is due to be produced by the end of 2013.

The UK participates in rare disease research at European level and will be actively involved in the new International Rare Disease Research Consortium (IRDiRC).

Notes to Editors

The Rare Diseases consultation document can be found at:

For further information, please contact the Department of Health press office on 020 7210 5221.


Department of Health
Phone: 020 7210 5221

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