Creating better care for people with rare diseases

Alastair Kent OBEIn this guest post for Rare Disease Day, Alastair Kent OBE, Director of Genetic Alliance UK and Chair of Rare Disease UK, looks at what’s been achieved for patients with rare diseases and how open access journals are playing their part.

For many years rare diseases (defined as those that affect fewer than 5 in 10,000 in the European Union) have been invisible. Patients and families affected by the 6,000 or more different rare diseases have been lost in the system, suffering the consequences of delayed diagnosis, misdiagnosis (often two or three times) and fragmentary, disjointed care.

Recent advances in research have changed this situation significantly. Increasingly there is the possibility of better care and management for affected patients and a growing number of innovative therapies are becoming available to patients with rare diseases.

Improving care and support for rare disease patients does not happen by chance, Genetic Alliance UK (the umbrella alliance of nearly 170 patient organisations) has campaigned for many years to raise awareness of the needs of those affected by genetic conditions. Taking advantage of the unanimous adoption of a recommendation calling on all EU member states to produce National Plans for improving care and support to rare disease patients, we set up Rare Disease UK (RDUK). This is a multi-stakeholder campaign which works across disciplinary and institutional boundaries to improve the situation for patients with rare diseases and their families.

Doctors with patientRDUK has successfully collaborated with government and the NHS across the UK’s four nations to help develop the UK Strategy for Rare Diseases, published in November 2013. Today for Rare Disease Day (which is always the last day of February, recognising that 29th February is a rare day) we are celebrating the announcement of the steps being taken by the UK’s four healthcare systems to implement the commitments in the strategy.

Despite unprecedented progress, most rare diseases are at best intractable. Many are incurable, and all limit the quantity and/or quality of life for those affected. Sustained high quality biomedical research is essential if this situation is to change for the millions of people living with the daily impact of unmet medical need arising from a rare disease. But research without action to raise awareness of its outcomes and its translation into improved services, support, information and therapies for those affected is of limited value.

Patients and families need and want access to the latest, state of the art information about their condition and what can be done realistically to alleviate it. Open access journals have a key role in enabling this and in so doing helping to create an effective lobby for the delivery of the commitment made in the UK Rare Disease Strategy, many of which relate to improving opportunities for rare disease research and development. Hopefully this will create a virtuous circle whereby greater awareness leads to greater resources, attracting more researchers, producing better outcomes, delivering health gains, thereby raising awareness further and turning the wheel again!

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