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unpublished study has shown that better care of patients with rare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:
http://www.dh.gov.uk/health/category/publications/consultations/
For further information, please contact the Department of Health
press office on 020 7210 5221.
Contacts:
Department of Health
Phone: 020 7210 5221
NDS.DH@coi.gsi.gov.uk