It's Not Rare to Have a Rare Disease

1. INTRODUCTION

The 5.3 million people living in urban, remote and rural settings in Scotland receive health and social care services through 14 NHS Boards and 32 Local Authorities operating across an area of 30,000 square miles, including almost 100 inhabited islands.

Rare Disease UK^[2] estimates that within the Scottish population there are up to 300,000 or 1 in 17 people who may be affected by a rare disease over their lifetime.^[3] Many rare diseases present early in life.

A rare disease can be defined as "…a life-threatening or chronically debilitating disease that affects 5 people or fewer in 10,000 and requires special, combined efforts to enable patients to be treated effectively."^3[3]

The diversity of rare diseases, the specialist knowledge required to diagnose and treat the conditions and the geography of Scotland brings challenges for health and social care services and their partners in delivering services. Our remote and rural health delivery challenges can be magnified with rare conditions, as it may not be possible to make highly specialised service provision locally available to the dispersed population of people living with rare conditions.

We therefore worked in partnership with the other UK countries on the development of the UK Rare Disease Strategy^[4] aiming to support earlier diagnosis, improve services, research and support for people of all ages living with rare diseases to deliver on the European Union (EU) Council Recommendation of 2009 for Member States to take action on rare diseases, namely:

"Establish and implement plans or strategies for rare diseases at the appropriate level or explore measures for rare diseases in other public health strategies, in order to aim to ensure that patients with rare diseases have access to high-quality care, including diagnostics, treatments, habilitation for those living with the disease and, if possible, effective orphan drugs..." ^[5]

The 2012^[6], UK-wide consultation in advance of the UK Rare Disease Strategy received 300 plus responses. The UK Rare Diseases Strategy drew on this consultation in developing the UK response to the issues affecting people living with rare diseases, seeking to:

• promote equity of access - allowing everyone with a rare disease to follow a clear, well defined care pathway, providing high quality services for every individual through integrated personal care plans
• offer a patient centred, co-ordinated approach to treatment services, specialist healthcare and social care support which takes into account the needs of the patient, their family and others who provide essential support
• deliver a holistic approach to diagnosis and treatment of rare diseases, developed through the best use of local resources that are easily accessible by patients and professionals
• support specialised clinical centres offering excellence in clinical care, expertise and patient support
• require these centres to offer care and expertise to families, the multi-professional health care team, and health service management
• promote excellence in research to develop understanding of and treatment for rare diseases
• secure rapid and effective translations of advances in the understanding of rare disease into clinical care by creating appropriate infrastructure, care pathways and clinical competences
• deliver effective interventions and support to patients and families quickly, equitably and sustainably
• promote collaborative working between the NHS, research communities, academia and industry wherever possible to facilitate better understanding about rare diseases and how they can be treated
• have education and training programmes in place that enable health and social care professionals to better identify rare diseases to help deliver faster diagnosis and access to treatment pathways for patients: and
• promote the UK as a first choice location for research into rare diseases as a leader, partner and collaborator.

Each of the four countries committed to developing an implementation plan for the UK Rare Disease Strategy, reflecting their individual health service structures and priorities for action to deliver the agreed commitments.

Work on national rare disease plans is also underway across the EU and many countries have published plans. Where relevant there is existing inter-country and EU-wide collaboration. It is envisaged that more collaboration will develop as rare disease work progresses.

Rare Diseases in Numbers^[7]

• An estimated 300,000 people in Scotland are potentially affected by a rare disease
  (up to 3.5m in rest of UK and up to 29m across the EU)
• There may be between 6,000 and 8,000 rare diseases.
• Around 250 new rare diseases are discovered every year
• Around 80% of rare diseases are genetic in origin
• 350 rare diseases affect 80% of all rare disease patients.