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Dr Sarah Wollaston MP, Chairman, Health Select Committee


Press Release Rarer diseases are neglected by the NHS with misdiagnosis common

A new report by influential think-tank 2020Health covers the growing problem of GPs missing or misdiagnosing rarer diseases.

The report ‘Forgotten Conditions: misdiagnosed and unsupported, how patients are being let down’ criticises those professionals whose overwhelming focus is on treating a handful of major illnesses rather than developing systems for diagnosing and treating the increasing number of rarer diseases. As a result, thousands of people suffer for years with misdiagnosis and inadequate treatment.

The findings are the result of a roundtable which brought together health policy-makers, GPs, politicians and senior academics. One in seventeen people will be affected by a rare condition in their lifetime, a number that is projected to mushroom in the coming years.

One such disease, Ankylosing Spondylitis (AS), is barely known outside of medical circles, even though more than twice as many people in the UK suffer from the disease as multiple sclerosis (MS). AS causes crippling back pain that can render sufferers unable to walk.

The average time between the onset of AS and correct diagnosis is eight and a half years.

2020Health CEO Julia Manning described the damning conclusions of the report as “proof that a lot of people are being let down by the NHS despite the fact we have the technology and expertise to improve diagnosing illness.

“The conclusions of this report are sobering: there is still too much variation in care across the NHS, too little information on rare disease and not enough down to empower patients to look after themselves. A paternalistic approach by the NHS is unsustainable and unhealthy, and this needs to be considered alongside greater awareness of rare diseases in medical training.”

There are already more than 5,000 rare diseases, and around five new ones are listed in medical journals each week. Eighty percent of rare conditions have a genetic component, strongly indicating that more funds are needed in this area to diagnose correctly.

At present, the UK only offers screening for five childhood diseases at birth, compared with over thirty in the United States and twenty in many European countries.

The 2020Health report also revealed how wrong or late diagnosis wastes vital NHS funds, and costs considerably more than early diagnosis, requiring expensive and invasive medical treatment. Moreover, the quality of life of those suffering with rare diseases is severely impeded.

2020Health CEO Mrs Manning continued: “People with rarer or less known disease feel forgotten; but they should be given the same consideration as people with better-known conditions. In a recent survey conducted last year, 98% of Britons agree that people with rare conditions need specific NHS support.

“2020Health hope that the Department of Health’s ‘Consultation on the United Kingdom Plan for Rare Diseases’, due to be published by the end of 2013, will take note of our recommendations and make some positive steps in meeting the healthcare needs of children and adults suffering with a rare disease.

“At present there are too many inequalities in treatments offered to patients around the UK. It is vital that the NHS is a health service that looks after everyone.”


Note to Editors
1. For interviews, comment or further information please contact Julia Manning, 2020health Chief Executive, 020 3170 7702 or

2. is an independent, grass-roots Think Tank passionate about creating a healthy society. We identify issues and bring informed people together to create these solutions.