The long awaited UK Strategy for Rare Diseases has now been published! This document brings hope to the millions of people in the UK who are affected by rare conditions.
Key features of the Strategy include:
- a clear personal care plan for every patient that brings together health and care services, with more support for them and their families
- help for specialised clinical centres to offer the best care and support
- better education and training for health and social care professionals to help ensure earlier diagnosis and access to treatment
- promoting the UK as a world leader in research and development to improve the understanding and treatment of rare diseases
To achieve the UK-wide vision for rare diseases, there are 51 recommendations which all four countries of the UK have committed themselves to.
You can read them here:https://www.gov.uk/government/publications/rare–diseases-strategy
Ministerial foreword (Department of Health UK Strategy for Rare Diseases Publication)
The UK Strategy aims to ensure no one gets left behind just because they have a rare disease. We want to put the patients’ needs first. To do this, we will bring together the talent,
skills and professionalism of all relevant sectors. This will bring real, positive change in how we deal with rare diseases and how we help people with complex conditions.
There are between 5,000 and 8,000 rare diseases. Each one affects less than 0.1% of the UK’s population, but together they affect the lives of 3 million people.The Strategy aims to ensure that people living with a rare disease have the best quality of evidence based care and treatment that our health and social care systems, working with charities and other organisations, our researchers and industry can provide.
The UK is a recognised leader in research, treatment and care for rare diseases. It is at the forefront of the genomics revolution which could radically transform the way we diagnose and treat patients with rare diseases. We are already starting to drive this work forward, through initiatives such as the programme that will map the whole genome of 100,000 NHS patients which has rare disease as one of its key priorities. This Strategy illustrates the UK commitment to build on our successes to date.
The diagnosis, treatment and management of rare diseases also require the highest level of partnership working to remove unnecessary barriers. We will build upon the best research, diagnosis and service provision that already takes place in the UK and elsewhere. We will improve understanding of rare diseases and increase the chances of finding effective and sustainable treatments and therapies. We will continue to encourage and develop collaboration at all levels and wherever possible.
All 4 UK countries will work together to achieve these goals. However, it is recognised that there will be certain areas where each country may wish to take a different approach on delivery, such as delivery of patient services, data sharing, national commissioning and priority setting. Separate plans for England, Scotland, Wales and Northern Ireland will be published to support and facilitate the implementation of this UK Strategy.
The plans will build upon current services following best practice and achieving value for
money through the effective use of resources. They will support the UK Strategy and give
people more detailed information on what is needed and how it will be delivered locally
and nationally for the Strategy to succeed.
To develop the UK Strategy for Rare Diseases, the Rare Diseases Stakeholder Forum was established. We will ask that this 4 The UK Strategy for Rare DiseasesForum continues to work with all 4 countries of the UK to monitor the implementation of this Strategy to ensure work in this vital area is driven forward.
Rare Disease UK Press Release (See attachment)
The Alpha-1 UK Support Group are delighted to announce that Professor William MacNee has agreed to become joint Patron of our group together with Professor Robert Stockley who has been our patron since 2009. William MacNee is Professor of Respiratory and Environmental Medicine at the University of Edinburgh and Honorary Consultant Physician at NHS Lothian Scotland. He held the Chair of the Scientific Committee of the European Respiratory Society (ERS) and also the ERS Presidency. He has served on the British Thoracic Society COPD guideline committee and was co-chair of the ERS/ATS COPD guidelines committee. He is currently establishing a comprehensive database of Alpha-1 patients in Scotland and is conducting a clinical study on an inhaled Alpha-1 intervention. Professor MacNee is leading the Alpha-1 Alliance’s campaign in Scotland. 
Karen North, Member of the Alpha-1 Alliance’s Executive Committee, joined a panel of selected representatives of the rare disease community at a Parliamentary Seminar on specialised commissioning on Wednesday, 6th November.
Mark said “My dear friend Sioned Lewis is suffering with this condition and I am looking to help as much as possible raising awareness and money” Sioned underwent a lung transplant the end of August and is now doing well and recovering at home.