Rare Disease Impact Report: insights from patients and the medical community

Availability of resources and information, economic impact, and emotional toll are three key themes highlighted by a new report commissioned by biopharmaceutical company Shire to collate and compare the views of clinicians, patients, caregivers and payors/commissioners on rare diseases.

The report seeks to identify common themes within the rare disease community. Whilst individually each disease affects only a small number of people, collectively they are estimated to affect 3.5 million in the UK. Addressing issues shared by those with rare diseases is a priority of the European Commission, who have recently (June 2013) issued their Core Indicators for monitoring Rare Disease National Plans/Strategies, and expect each member state to have their plan in place by the end of 2013.

Chief among the issues recognised by the report are the time it takes to diagnose a rare disease and the uncertainty over treatments, which combine for a significant financial and emotional impact. Many also recognise the torturous care journey taken by the patients, typically characterised by two or three misdiagnoses, visits to up to 8 different physicians and an average of 5.6 years to receive a proper diagnosis (7.6 years in the US).

Report source: Shire