It's Not Rare to Have a Rare Disease

The Implementation Plan for Rare Diseases in Scotland


This implementation plan seeks to ensure that the needs of people with rare diseases are reflected in health and social care service planning and delivery across Scotland.

It aims to provide appropriate healthcare support to people with rare diseases through primary care, community, acute and specialist services and social care support, within existing service arrangements and the developing integrated health and social care arrangements.

The plan acknowledges that delivery of the actions requires continuing collaborative working between the NHS, public and third sector partners, researchers, academic institutions and industry. It also acknowledges that partnership working in rare disease research is key to providing diagnostic tools to reduce diagnostic delays and to pilot and develop treatment interventions.

The chapters which follow set out current activity across Scotland and potential actions, with leads and timescales to be agreed, for NHS Scotland and Scottish Government to deliver against the 51 commitments of the UK Strategy for Rare Diseases across its 5 themes:

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

During 2014 Scottish Government will therefore establish an Implementation Oversight Group to among other things key themes/actions and metrics to assess progress/delivery of the Implementation Plan over agreed timescales.

A range of themes have emerged from the work to develop this rare disease plan for Scotland. Many suggested actions have also emerged and these are set out at the end of each chapter under 'Suggested Next Steps'. These suggested actions are grouped under the various themes that have emerged from wide-ranging discussions and feedback from NHS Scotland, third sector colleagues and patients.

It would be neither sensible nor possible to put in motion all the action suggested nor to put timescales against these as part of this plan. It is also clear that many of these themes are a recurring thread throughout and will need to work across several clinical and other areas to achieve.

We are therefore presenting these as a range of suggested actions at the moment, however we will need to agree in collaboration how best to bring these together into a smaller set of deliverables that are capable of being delivered and importantly can be monitored to capture progress over time

The first task for the Rare Disease Implementation Oversight Group will be to bring forward a timed, deliverable and sustainable set of high level actions to encourage, support and deliver the changes we all want to see in rare diseases.


Email: Paul Currie

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