The Pituitary Foundation welcomes the new UK Rare Diseases Framework

The Department of Health and Social Care has published a new UK Rare Diseases Framework, which replaces the previous UK Strategy for Rare Diseases published in 2013. 

The purpose of the Framework is to set out a vision, and high-level priorities for the next five years, on how the UK will improve the lives of people living with rare diseases.  The four priorities in the Framework are: helping patients get a final diagnosis faster; increasing awareness of rare diseases among healthcare professionals; better coordination of care and improving access to specialist care, treatments and drugs.

The Pituitary Foundation’s, Chief Executive, Menai Owen-Jones, said: “It’s a positive commitment by the UK Government to launch a new UK Diseases Framework.  As the leading patient organisation in the UK representing people with rare pituitary conditions, we strongly advocate the real need for increased awareness, policy focus and action, to improve outcomes for people affected by genetic and non-genetic rare diseases. Integral to developing meaningful policy is to make sure patients are at the centre of decision making, that they are empowered, included and their voices are heard.”

Menai continued: “We agree with the priorities outlined in the new UK Rare Diseases Framework.  They echo many of the issues experienced by pituitary patients, including for example: delays in diagnosis; lack of knowledge amongst healthcare professionals, challenges around multi-disciplinary and co-ordinated care provision and accessing treatments.  These priorities however do not reflect the full extent of the complex challenges faced by many people living with a pituitary condition.  We recognise nevertheless, the need to rationalise priorities in this overarching Framework and that they were informed by the most common views expressed in a National Conversation on Rare Diseases Survey 2019.”

Health is a devolved matter and therefore each individual nation is responsible for developing their own action plans according to the principles of the Framework, highlighting steps the nations will take to meet its aims in accordance with their own arrangements. The UK Rare Diseases Framework is ambitious, and following its launch, The Pituitary Foundation is now calling both for timely implementation action across all four nations, as well as for additional funding to deliver the Framework’s ambitions.

Menai said: “What will make real change happen is action. We urge all administrations across the four nations to prioritise the development of their UK Rare Diseases Framework action plans this year, so that we will see timely implementation.  Importantly also, we are calling for funding across the UK towards the implementation, as without adequate resourcing it is difficult to see how the aspirations of the Framework will be realised.”

Genetic Alliance UK, through Rare Disease UK, intends to publish a report marking Rare Disease Day 28 February 2021, containing a list of ‘must-haves’ for the nations’ action plans.

A more detailed report written by James Charlick, Assistant Administrator, at The Pituitary Foundation, about the new Framework can be read here.  The new UK Rare Diseases Framework itself can also be accessed here.