Illuminating the rare reality (2019)

This report, published on Rare Disease Day 2019 is a culmination of findings from Rare Disease UK and Genetic Alliance UK to evidence the experiences of those living with a rare condition. The report underpins our call for a refresh and review of the UK Strategy for Rare Diseases focussing on five key areas: diagnosis, rare disease care and treatment, information and support, rare disease research and keeping the strategy up to date.

Of the areas we identified, there is a substantial need for continued research and renewed policy focus. As such, we have made five consequential recommendations, implementing these recommendations will help to improve the lived experiences of rare disease patients:

Recommendation one: Review and refresh the UK Strategy for Rare Diseases before the end of 2020. The strategy has become obsolete as technologies, policies and systems have moved on. Its commitments urgently need updating to ensure rare disease patients receive high quality services, treatment and support regardless of where they live in the UK.

Recommendation two: Improve diagnosis and early intervention. Make the most of data and technologies for faster and more accurate diagnosis of rare diseases. Realise the value of the UK’s investment in genomics to ensure that rare and genetic conditions are identified as soon as possible, improving health outcomes and saving money for the NHS.

Recommendation three: Modernise rare disease care and treatment. Introduce a comprehensive culture of best practice in the NHS, delivering evidence-based and coordinated care.

Recommendation four: Enable people living with rare diseases to access accurate information. The NHS should provide information about rare conditions and signpost to support groups.

Recommendation five: Protect and enhance the UK’s role in rare disease research. Ensure capacity for, and commitment to, research into rare diseases is not diminished and that the UK continues to attract investment.

Using the findings of this report, and the open letter of support signed by over 125 patient organisations, Rare Disease UK will continue to campaign for a review and refresh of the UK Strategy for Rare Diseases.

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