It's Not Rare to Have a Rare Disease

Foreword from the Cabinet Secretary for Health and Wellbeing

Rare Disease UK estimates that up to 300,000 people in Scotland's population may be affected by a rare disease over their lifetime. This is a significant figure. They also suggest patients with rare diseases in Scotland have experienced delays in gaining a diagnosis, with several getting a number of diagnoses on the way.

It is therefore important to emphasise our continued commitment to pursuing the three Quality Ambitions of safe, effective and person-centred care for all patients including those with rare disease and to deliver our 2020 vision, that by 2020 everyone is able to live longer healthier lives at home, or in a homely setting. In delivering this vision, we are committed to the provision of a healthcare system where we have integrated health and social care with a focus on prevention, anticipation and supported self-management.

Work on a UK Rare Disease Strategy was started as a partnership between the four countries of the UK. We jointly embarked on a consultation on plans to develop a 'UK Strategy for Rare Diseases'^[1], which was jointly endorsed by me and my UK counterparts at its launch in November 2013.

This Implementation Plan for Scotland reflects some of the excellent work of relevance to people living with rare diseases in Scotland carried out by partners from across the NHS, universities, enterprise, industry, social care and the third sector. It also acknowledges the importance of a timely and accurate diagnosis, allowing appropriate treatment to start as soon as they receive it, and allowing people with rare conditions and their families/carers to access support services across NHS Scotland and the third sector.

This is a challenging plan and it will take time to deliver over the next few years. I am sure however that by continuing to work together with patients as well as NHS professionals and our third sector colleagues we will make a difference.

Alex Neil
Cabinet Secretary for Health and Wellbeing