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Rare Disease Policy Manager
Healthcare Planning Team
Ground Rear
St Andrew's House
Regent Road
Edinburgh
EH1 3DG
 
Email: ceu@gov.scot

Rare Diseases

Implementation Plan for Rare Diseases in Scotland

The Scottish Government vision is that by 2020 everyone is able to live longer healthier lives at home, or in a homely setting.  We will have a healthcare system where we have integrated health and social care, a focus on prevention, anticipation and supported self-management. We are committed to pursuing the three quality ambitions of safe, effective and person-centred care, as set out in the Quality Strategy and our 2020 Vision and accompanying Route Map.

Rare Disease UK estimates up to 300,000 people in Scotland's population may be affected by a rare disease over their lifetime. They also suggest many people with a rare disease in Scotland have experienced delays in gaining a diagnosis, with several getting a number of diagnoses on the way. Among health professionals understanding of rare disease was said to be patchy.

Following a European Union Council Recommendation on rare diseases, in 2012 the four countries of the UK jointly embarked on a consultation on plans to develop a UK Strategy for Rare Diseases:

The consultation outcomes informed the development of the UK Strategy, published in November 2013. To deliver the commitments in the Strategy, each of the four countries agreed to develop their own implementation plan to reflect local health system arrangements and plans for the delivery of improvements.

Scotland

The Implementation Plan for Rare Diseases in Scotland aims to improve services for people living with a rare disease and their family members:

The plan describes the  excellent work already carried out across the NHS in Scotland, universities, enterprise, industry, social care and the third sector in supporting people with rare diseases and  sets out actions to make progress in priority areas. It acknowledges the importance of timely and accurate diagnosis to allow appropriate treatment to start and to give people with rare conditions and families access to support services.

This Scottish Plan underpins delivery of the UK Rare Disease Strategy, which in turn supports the drive in Europe to improve rare disease services.

Our Implementation Plan was prepared in discussion with specialists, NHS Boards, the third sector and patients. It sets out how Scotland will deliver commitments across five areas over the next five years:

  • Empowering those affected by rare diseases
  • Identifying and preventing rare diseases
  • Diagnosis and early intervention
  • Co-ordination of care
  • The role of research