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Developing a strategy for the management of rare diseases

BMJ 2012; 344 doi: (Published 12 April 2012) Cite this as: BMJ 2012;344:e2417
  1. C Mark Taylor, consultant emeritus in paediatric nephrology1,
  2. Fiona E Karet Frankl, professor of nephrology2
  1. 1Department of Nephrology, Birmingham Children’s Hospital, Birmingham, UK
  2. 2Department of Medical Genetics and Division of Renal Medicine, Cambridge Institute for Medical Research, Addenbrooke’s Hospital, Cambridge CB2 0XY, UK
  1. fek1000{at}

Needs central coordination and input from patients

Three million people in the United Kingdom have a rare disease, defined in both Europe and the United States as a disease that affects fewer than one in 2000 people. It is well recognised that those with rare diseases face intrinsic inequalities in healthcare, and in response to a 2010 recommendation by the European Commission, the UK government, like other member states, agreed to produce a strategy for rare diseases by 2013.

Liam Donaldson, when chief medical officer for England in 2009, paved the way for this in “Rare is common,” a crucial chapter in his annual report,1 which recalled that patients with rare diseases tend to be diagnosed late, find it hard to get information about their condition, are slow to benefit from therapeutic advances, and struggle to adapt to the day to day demands of what are often chronic conditions with a genetic cause. Subsequently, Rare Disease UK (RDUK), an alliance of many organisations, undertook an extensive analysis of what is needed and determined that a successful national strategy would integrate research, prevention, diagnosis, treatment, care and support, information, and commissioning.2

The Department of Health’s rare diseases consultation process that will end on 25 May 2012 acknowledges the need for a coordinated response that empowers patients.3 However, the selection of preformed questions embedded in the consultation suggested several blind spots.

The consultation suggests that commissioning to provide complex networks of care for patients with rare diseases will be …

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