UK Rare Disease Forum Conference

On Friday 24 November we attended the UK Rare Disease Forum Conference. The purpose of the meeting, attended by a variety of patient organisations, clinicians, and civil servants, was to discuss the implementation of the UK Strategy for Rare Diseases so far, and what the UK Rare Disease Forum and the UK Rare Diseases Policy Board should focus on in the upcoming year.

The day was split into three sections: developments from the devolved administrations and arm’s length bodies; a discussion session on progress, limitations and challenges with work to date; and a second discussion session on a forward view and outstanding issues.


The first section featured five minute presentations on highlights and achievements from Mark Walker, vice chair of the Rare Disease Implementation Group for Wales; Tom Fowler from Genomics England; Victoria Hedley from Newcastle University John Walton Muscular Dystrophy Research Centre speaking about European Reference Networks; and Fiona Marley from NHS England.

Following these updates the speakers took part in a panel discussion. The questions touched upon the challenges of securing a timely and accurately diagnosis, and the importance of remembering those without a diagnosis, due to the consequences this can have on accessing treatment and support. There was also a focus on the necessity to collaborate across devolved nations in implementing the UK Strategy for Rare Diseases.

We were pleased that members of the Patient Empowerment Group were given the opportunity to attend; the group has been a key tool in our interactions with both NHS England and the Department of Health, in regards to developing an implementation plan for England.


During the discussion sessions, the sheer number of the 51 commitments in the UK Strategy for Rare Diseases were raised as a possible limitation. The commitments can have variable interpretations by different stakeholders, due to their broad nature. It was also questioned if all of the commitments are still relevant, especially given major institutional changes since their development – such as the UK’s decision to leave the EU. Suggestions for solutions included reframing the commitments, consolidating them while reducing their number, and improving their measurability. NHS England has grouped the commitments into three pillars as part of their implementation plan and attendees asked if this could be built upon further.

One of the main challenges identified was the inequity in treatment across not only the UK but within nations as well. Attendees called for UK-wide collaboration to tackle such disparities in care.

Attendees also noted that in order to facilitate collaboration amongst the four nations in implementation of the UK Strategy for Rare Diseases, transparency is essential. For example, minutes from meetings such as the Rare Disease Advisory Group, which makes recommendations to NHS England and the devolved administrations of NHS Scotland, NHS Wales and NHS Northern Ireland on developing and implementing the UK Strategy for Rare Diseases, should be made available.

Attendees noted that the constant pressure from the Rare Disease UK campaign and ensuring that the patient voice is informed and represented in the implementation of the Strategy has helped progress in rare disease policy. Unfortunately, attendees did not feel that patient and public involvement has been meaningful in the work of the Departments of Health or respective NHSs in the four nations.


The second session focused on the role of the Policy Board in 2018. Attendees called for better patient engagement within processes, a focus on training and education for healthcare professionals and the development of a communication plan for the UK Strategy for Rare Diseases so patients are aware of what progress has been made. An additional key issue raised was the possibility of refreshing the UK Strategy for Rare Diseases to look beyond the deadline of 2020. Currently much of the plans for implementation are based around pilots or measures that address a small fraction of the population affected by rare diseases. Therefore there is a need to develop these measures further for all rare disease patients. Treatment of rare diseases will not end following the 2020 deadline for the strategy. Consequently the implementation plan needs to ensure the work of the strategy continues past 2020 to ensure better treatment, diagnosis and experience for patients.


Throughout the day many discussions focused around the importance of patient voice, sharing expertise, and sustainability of care. There is a continued importance for the UK Strategy for Rare Diseases and the need for its valuable work to continue past the deadline of 2020, in order to develop research, expertise, knowledge and patient involvement. Attendees of the conference agreed that this calls for a forward thinking view in relation to the implementation plans, which should have cross collaboration across the devolved nations.

We look forward to seeing the UK Rare Diseases Policy Board take these issues forward in 2018.


The aim of the UK Rare Disease Forum is to provide comprehensive stakeholder insight and advice on the main issues, challenges and risks to meet the 51 commitments in the UK Strategy. The Department of Health claim that membership of the Forum is broad and wide-ranging but details of the membership are not publicly available.


The role of the UK Rare Diseases Policy Board, established in 2016, is to facilitate the co-ordination of policy development across the UK to help deliver the UK Strategy for Rare Diseases.

Remember to vote for your favourite...