MPs hear patients’ views on the implementation of the UK Strategy for Rare Diseases in England

The publication of the UK Strategy for Rare Diseases in 2013 should have heralded a new era in the treatment and care of rare disease patients in England, Scotland, Northern Ireland and Wales. Containing 51 commitments, the Strategy aims to ensure that health and social care systems across the four nations provide those living with rare conditions with the highest possible quality of evidence-based care and treatment, regardless of where they live in the UK.

The four countries of the UK have until 2020 to implement the commitments outlined in the Strategy. While the departments of health in Scotland, Wales and Northern Ireland have all published country specific implementation plans that reflect their respective health service structures and priorities, the Department of Health in England has not coordinated a plan for England.

On Tuesday 1 November, patients, families, carers and patient representatives met with members of the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions to discuss the impact that the absence of an implementation plan is having on patients in England. As we edge ever closer to the Strategy’s expiration date, patients are clear that more needs to be done to meet its aim ‘to ensure no one gets left behind just because they have a rare disease’.

Implementation in England

Attendees were welcomed to the hearing in Portcullis House by Ben Howlett MP, Chair of the APPG. Ben was also joined by Mark Durkan MP. The session was introduced with a presentation from Nick Meade, Chair of the Patient Empowerment Group (PEG). Consisting of patient representatives from across Rare Disease UK’s supporters as well as Genetic Alliance UK’s membership, PEG was established to help monitor the implementation of the Strategy.

Nick outlined the history and aims of the UK Strategy for Rare Diseases and the role of PEG in providing a patient voice on the Strategy. He explained PEG’s concerns with the Department of Health’s reconfiguration of the UK Rare Disease Forum earlier this year.

A UK-wide effort

Attendees pointed out that where there has been improvement in some patients’ care in England over the past three years, this is largely due to the efforts of clinicians and families who have taken responsibility for coordinating care, rather than institutional or structural changes in healthcare provision. Many patients believe there is a lack of coordination between health and social care services particularly for newly diagnosed patients. Attendees provided examples of specialist centres for rare diseases not being effectively utilised as patients were not receiving referrals. Attendees were also concerned about a perceived lack of resource, staffing and funding in the Department of Health where rare diseases are concerned. The group agreed that an implementation plan would provide measures for healthcare providers in England to work from.

It was also recognised that the implementation of the Strategy in England would benefit rare disease patients in Wales, Scotland and Northern Ireland. Health departments in these countries have sought to join or replicate the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), a successful initiative that has developed as a direct result of the Strategy. An implementation plan for England that identifies the bodies in charge of taking forward each commitment would provide a good point of contact for the devolved nations.

Leaving the EU

The group discussed whether leaving the European Union will affect the implementation of the Strategy. Nick Meade highlighted that because the Strategy is a UK document, it is unlikely to have direct consequences for its implementation. Nonetheless, leaving the European Union could affect research collaboration across Europe. Attendees provided examples and noted that the attractiveness of the UK as a place to do research and launch treatments has already diminished. There was broad agreement that the departure away from the European Medicines Agency (EMA) will be disastrous for rare disease patients in the UK.

Research, development and fundraising

While recognising the importance of pharmacological research, attendees also noted that service research and provision is crucial to improve the quality of life of those living with rare diseases and their families. This is particularly important for the majority of rare disease patients, for whom there is no medicine available.

It was recognised that many patient organisations directly fund not only research into treatments, but also health and social care services for patients and families. Many patient groups fund and employ specialist staff, such as nurses. While attendees felt it was necessary to do so, they did not think it was right that patient organisations had to fill the gaps resulting from the NHS’s lack of service provision.

Mental health and rare disease

Many patient organisations fund counselling services and employ mental health professionals. Patients with rare diseases face a number of mental health problems resulting from both neurological changes that occur with their condition and the psychological impact of living with a rare disease. It was suggested that because many patient groups face similar psychological issues, there could be the potential to develop a specialist rare disease psychology service. Cognitive and sensory impairments can be a further barrier to accessing mental health treatment.

“If we ensure that the UK Strategy for Rare Diseases is implemented properly, the knock on effect will hopefully be that our carers and patients are not so traumatised and distressed by the type of care they receive.”


A number of attendees also recognised that rare diseases not only affect the mental health of patients, but also their families. The lack of coordination of care experienced by so many patients can affect their mental health.

Next steps

The patients and patient representatives attending were all broadly in agreement that ultimately the Department of Health needs to take responsibility for implementing the Strategy in England. It must develop an implementation plan and provide adequate resources to allow for the effective coordination of such a plan. The existing implementation plans developed in the devolved nations provide the respective departments of health with targets, and the public a way of holding the respective governments to account.

At present, the level of communication between the Department of Health and patients affected by rare diseases is inadequate, and needs to be improved for meaningful change to occur.

To support the APPG’s inquiry into the implementation of the UK Strategy in England, we need to hear from everyone affected by rare diseases –that includes patients, family members and carers. To submit evidence, please see our guidance. Evidence can be submitted via e-mail or online using this form.

We also welcome input from other stakeholders in the rare disease community, including patient representatives and academics. Please see this guidance for more information. Evidence can be submitted via e-mail.

The deadline for submitting evidence is Monday 2 January 2017.