Draft plan launched to make the care sector better prepared for Rare Diseases

Even though a rare disease is categorised as affecting fewer than 5 people in 10,000 of the generation population, when taken as a whole statistics show that, in the UK, 1 in 17 people will be affected by a rare disease during the course of their lifetime.

The Welsh Assembly have now launched a Wales Rare Disease Plan, which proposes a range of draft measures designed to ensure that having a rare disease does not mean an individual is likely to be overlooked or receive substandard care.

As well as suggesting new measures for smoother coordination of care and the empowerment of those with rare diseases, the Plan will also look into the role of research, diagnosis and early intervention, and identification and prevention.

Welsh Government Health Minister, Mark Drakeford, comments: “By their very nature rare diseases offer specific challenges to the NHS. To achieve the best results we need to support the families concerned by engaging and coordinating the contribution of primary care, available everywhere, and various specialised services, which may operate only at regional, national or even international level.”

Kayleigh Old, the Cystic Fibrosis Trust’s Public Affairs Officer for Wales, is among those to welcome the launch of the new strategy, saying: “Cystic fibrosis has been screened within the first week of a child’s birth since 2007, allowing early access to medical treatments, leading to better health and quality of life. This should be the case for all rare diseases.

“The Cystic Fibrosis Trust supports the Rare Disease Plan and will respond to the consultation – we believe it empowers patients and their families to strive towards the care that they should receive and leads to streamlined and coordinated care.”

Mr Drakeford continues: “Accordingly, this draft Implementation Plan has been prepared by a Task Group which has brought together the NHS in Wales, the Welsh Government, the third sector and the research community and close links have been maintained with government officials and other interests across the United Kingdom.

“Because of the complexity of the issues surrounding rare diseases and the fast changing science that will help determine how cases are managed, the four Ministers have agreed to the establishment of a United Kingdom Group Rare Diseases Advisory Group which will maintain a continuing overview of the wider issues relating to the management of this agenda across the four countries.

“Within Wales I am establishing an Implementation Group to oversee the implementation process and keep the plan fresh and relevant and liaise with the NHS and other interests, taking advantage of developments in Wales and elsewhere in the United Kingdom.”

Professor Julian Sampson, director of the Wales Gene Park and Head of the Institute of Medical Genetics at Cardiff University believes the plan is “a big step forward”.

He comments: “In Wales, professionals involved in research into rare diseases have always worked seamlessly with the NHS and with patients and their families to ensure that progress is made and moved rapidly into clinical practice. This close working has been reflected in the involvement of the University’s researchers in producing the Plan.

“The high priority given to research in the Plan is very clear. Research is one of five themes that the plan focuses on and it also underpins each of the other themes, by providing an ever increasing evidence base for all aspects of care. The Plan makes very clear the need for ongoing commitment of Cardiff University, the Wales Gene Park and other research organisations to improve the lives of those affected by rare diseases.”