Rare Diseases Neglected and Misdiagnosed by NHS

One in 17 people will be affected by a rare medical condition, but these conditions are too often neglected by the NHS, according to a recent report titled ‘Forgotten Conditions: misdiagnosed and unsupported, how patients are being let down’.

This results in lower life quality for individuals and larger costs for the NHS, the benefits system, employers and patients, the report notes.

The report was produced by the 2020Health policy think tank, centred on the findings of a recent roundtable of health policymakers, GPs, politicians and senior academics.

It condemns those health 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, the report notes, thousands of patients suffer for years with misdiagnosis and inadequate medication.

Providing a patient with a wrong or late diagnosis also wastes valuable NHS funds, and costs significantly more than an early diagnosis, needing costly and invasive medical treatment.

There are currently over 5,000 diseases and roughly five new additional diseases are recorded in medical journals each week.  80% of rare conditions have a genetic component, which strongly points out that increased funds are required in this area to identify diseases correctly, commented 2020Health.

Currently, the UK provides screening for just five childhood diseases at birth, in comparison to more than 30 diseases in the US and 20 in most European countries.

The study makes a variety of recommendations for improvements, including training medial students to think broadly about ranges of possible diagnoses.  There also needs to be clear pathways to expertise in rare and forgotten illnesses, with the creation of shared care pathways, clinical guidance and centrally collated evidence, and recognition from the National Institute for Health and Clinical Excellence (NICE) that small numbers of patients should not prevent them from accessing new treatments.

One disease, Ankylosing Spondylitis, is scarcely known outside of medical circles, although more than twice as many people in the UK suffer from Ankylosing Spondylitis in comparison to multiple sclerosis.  The average time spent between the onset of the disease and the correct diagnosis is eight and a half years.

The use of technology to help narrow down to a range of potential diagnoses is also recommended, with the advance of smart systems that can let GPs know what tests and local specialised services are available.

Moreover, patients need to be engaged in self-diagnosis and self-care, with the GP performing as a “well-informed facilitator,” alongside government support for the self-care agenda, which also underlines the fact that the commissioning guidance for Clinical Commissioning Groups (CCGs) developed by the NHS Commissioning Board must be clear on how CCGs can integrate provision for patients with rare diseases into their planning.

“A lot of people are being let down by the NHS despite the fact that we have the technology and expertise to improve diagnosing illness,” noted Julia Manning, 2020Health chief executive.

“There is still too much variation in care across the NHS, too little information on rare diseases and not enough done 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,” Manning commented.

“People with rarer or less known disease feel forgotten; but they should be given the same consideration as people with better-known conditions,” she concluded.

In a recent survey conducted last year, 98% of Britons agreed that patients with rare conditions need specific NHS support.

The Department of Health is due to publish the findings of the consultation by the end of 2013.


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