Action to improve care for rare disease

Rare diseases affect 3.5 million people in the UK (1 in 17). They are defined by the European Union as a disease that affects fewer than five in 10,000 of the general population.1 There are over 6,000 recognised rare diseases, which includes some rare cancers and conditions such as cystic fibrosis and Huntington’s disease. In the 2012 consultation on the UK Plan for Rare Diseases, the UK Health Departments explained how many rare diseases affect multiple parts of the body, necessitating care and treatment from a range of specialists. It said: ‘Many rare diseases, particularly those of genetic origin, affect fundamental biological processes in every cell in the body, demanding a range of specialist expertise. Some cases require expertise in a number of disciplines. For example, the service caring for people with Biedl Bardet syndrome needs to call on diabetologists, ophthalmologists, nephrologists and all associated diagnostic and therapy services. Similarly, treating Alström syndrome will need require cardiologists and transplant services. A different condition, such as cystic fibrosis, might require a different mix of specialist expertise.’2 Rare Disease UK (RDUK) believes that every patient with a rare disease should have access to a named care coordinator – a trained professional who is responsible for ensuring that a care plan is in place and carried out. Care coordinators could also be known by other job titles, such as care advisors or key workers, or the role could be fulfilled by a specialist nurse. This would ensure that care for the patient is joined up, and that patients and families have access to the support necessary to live with the condition, it would also improve communication and coordination between the different healthcare professionals involved in the patient’s care and treatment. Whatever the care coordinators are called, it is crucial that a sufficient number of posts are created, in whatever capacity works best to meet the needs of patients and families affected by rare diseases, says RDUK. A recent RDUK report found that just 13% of patients with rare diseases currently have access to someone to fulfil the care coordinator role. This figure compares, for example, to 87% of people with cancer who are given the name of a clinical nurse specialist, whose role includes coordination. In a UK-wide survey of the experiences of patients and families with rare diseases RDUK found that one fifth (21%) of respondents said that the role of care coordinator should be fulfilled by a specialist nurse.2 Two major groups of charities have also backed the introduction of more care coordinators as a solution, in response to the UK Plan for Rare Diseases consultation. National Voices, the coalition of health and social care charities in England, recommended that ‘the plan includes a commitment to provide a single, trusted and easily contactable point of liaison, or care coordinator, for all people with rare diseases’. Genetic Alliance UK, the national alliance of over 150 patient organisations supporting all those affected by genetic conditions, took the same view.4

A named professional

The benefits of having a named professional to coordinate care was recognised over a decade ago in Department of Health (DH) guidance on Creutzfeld-Jakob Disease (CJD). The guidance notes that ‘Patients with terminal or degenerative conditions benefit from coordination of care and the identification of a key worker.’5 The role of the key worker for people with CJD is outlined as including coordination of professionals providing care, providing information about the condition as well as emotional support to families and carers. This is precisely the type of support that is also crucial for families with other rare diseases, says RDUK. The National CJD Care Team has two national care co-ordinators, funded by the DH in England. The care co-ordinators, who are senior nurses, work with patients, carers, professionals and organisations across the UK involved in the care of people with CJD, to provide advice, information and support. In RDUK’s experience, fragmented, poorly coordinated care is a major issue facing the majority of patients affected by rare diseases today. Often patients find themselves having to attend hospital – sometimes a number of different hospitals – on different days to see different specialists. The report found that the lack of coordinated care can aggravate a number of issues for patients and their families. Some of the problems experienced by survey respondents included: