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Study of patients' experiences highlights need for national strategy for rare diseases

17 January 2011
By Stephen Nutt
Public Affairs Officer - Genetic Alliance UK and Rare Disease UK Secretariat
Appeared in BioNews 591
A report released recently by Rare Disease UK (RDUK) demonstrates how patients and families affected by rare diseases frequently have problems accessing good quality services, care and support. The report, 'Experiences of Rare Diseases: An Insight from Patients and Families' (1), is based on a survey of 600 patients and families conducted by RDUK to examine a wide range of topics pertinent to patients with rare diseases: diagnosis, participation in research, access to treatment, information, support and co-ordination of care.

A rare disease is defined as one affecting fewer than five in 10,000 of the general population (2). The majority of rare diseases are genetic in origin (3). There are over 6,000 known rare diseases which together affect approximately 6-8 percent (%) of the population at some point in their lives (4), which amounts to over 3.5 million people in the UK. When viewed collectively, rare diseases aren't rare.

Despite the considerable number of people affected by rare diseases, a greater number of people than diabetes for example (5), patients and families have to battle to get an accurate diagnosis and then struggle to find out the medical impact of a condition and how to manage it, on top of having to cope with day-to-day life without adequate support.

Diagnosis of rare diseases is a significant area of concern. Without diagnosis patients and families cannot access effective treatment, therapy or manage their condition appropriately. Despite this, almost half (46%) of patients with rare diseases had to wait over one year for a final diagnosis following the onset of symptoms. Of this one in five (20%) had waited over five years and one in ten (12%) had waited over ten years.

Misdiagnosis is a significant problem; 46% of patients were initially incorrectly diagnosed and 30% had received three or more misdiagnoses. Delays in diagnosis and misdiagnosis may involve multiple avoidable hospital appointments and patients receiving inappropriate treatments and tests. Not only is this an inefficient use of NHS resources, this delay in appropriate treatment and management can contribute to an irreversible deterioration of patients' health.

Although diagnosis is crucial, for many the situation remains bleak even after diagnosis. There is a lack of information about all aspects of living with, and managing, a rare condition. Over half of respondents (52%) felt that they had not been given sufficient information on their condition following diagnosis. Even more worryingly, many respondents elaborated that they were given no information at all after being diagnosed.

Most rare diseases affect multiple parts of the body and many different professionals often need to be involved in care and treatment. It is essential that there is good coordination and communication between all those involved, but 75% of respondents do not have a care coordinator. Poor coordination of care aggravates a number of other problems experienced by patients and families leading to worse health-outcomes and poor use of NHS resources.

These are just some of the findings that support the need for a national strategy for rare diseases. RDUK believe that a strategy would provide a strategic policy focussed on rare diseases incorporating research and development, prevention, diagnosis and screening, information and support, coordination of care and commissioning and planning of services. The lack of a strategic approach in the past has lead to the piecemeal policy making and the fragmented services development that we see today.

The Council of the European Union (EU)'s 'Recommendation on an action in the field of rare diseases' was adopted unanimously by each EU Member State, including the UK, in June 2009. This calls on member states to develop and implement plans or strategies for rare diseases by 2013. The Department of Health (DH) has confirmed that it is working with the devolved administrations to develop a strategy for rare diseases and that this strategy will be available for consultation during summer/autumn 2011. RDUK hopes to ensure that an effective strategy is developed and implemented in practice to improve outcomes for patients affected by rare diseases and to ensure that NHS resources are being utilised efficiently.

RDUK will be launching its' recommendations on a strategy for rare diseases to coincide with international Rare Disease Day 2011 - 28 February.

1) Limb L, Nutt S & Sen A (2010) Experiences of Rare Diseases: An insight from patients and families
|  2010
2) Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe's challenges - COM(2008) 679
|  2008
3) Orphanet
The portal for rare diseases and orphan drugs |  18 January 2022
4) Council Recommendation on an action in the field of rare diseases (June 2009) 10122/09
|  2009
5) Diabetes UK
What is diabetes? |  18 January 2022
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