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Rare diseases: what do you need to know?

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All health professionals need to be aware of rare disease and ensure patients receive prompt diagnosis, information and ongoing support


This six-part series on rare diseases aims to increase awareness and offer advice on how nurses can help patients. Part 1 uses a case study to illustrate the complexity of caring for people with rare diseases and provides pointers on how the care of this patient group can be improved.

Citation: Stewart S, Peers K (2013) Rare diseases 1: what do you need to know? Nursing Times; 45, 12-14.

Authors: Sue Stewart is clinical nurse specialist in endocrinology and genetics at University Hospital Birmingham and Birmingham Women’s Hospital; Kate Peers is clinical nurse specialist in inborn errors of metabolism at University Hospital Birmingham.


All nurses, midwives and health visitors are likely to encounter patients with highly complex, rare diseases during their careers. These conditions are multisystem, debilitating, often life threatening and frequently inherited. The challenge for health professionals is to be aware of, and recognise them. Fully coordinated specialised care can only begin when someone puts the pieces together to make a diagnosis. This involves looking beyond a single system - such as cardiac, liver or kidney disease - and connecting the symptoms that may indicate an inherited condition.

The Department of Health (2012) consultation on rare disease suggests these conditions affect fewer than five in 10,000 people. Some are rarer still, affecting only a handful of people in the world. The Council of the European Union estimates that 5,000-8,000 distinct rare diseases exist, affecting 6-8% of the population at some point during their lives; this equates to one in 17 people worldwide (CEU, 2009).

A survey showed only 27% of patients with rare diseases are cared for in specialist centres (Rare Disease UK, 2013a). The remainder are likely to be seen in general hospitals or the community. As these patients tend to need frequent tests and ongoing medical care, it is important that everyone working in these settings is at least aware of rare diseases (DH, 2012).


Frequently, rare diseases present at birth or in infancy/childhood, and over 75% affect children (RDUK, 2013a). These include:

  • Rare cancers, such as neuroblastoma affecting nerve tissue alongside the spine, chest, abdomen and pelvis;
  • Bone diseases, such as osteogenesis imperfecta (brittle bones); and
  • Life-threatening birth defects, such as CHARGE syndrome, which is linked to heart and breathing problems.

This means that midwives, neonatal staff, paediatric nurses, district nurses and health visitors are likely to be involved in the care and support of these patients and their families. However, as more children with rare diseases survive into adulthood, greater recognition and treatment of adults is now needed.

Some rare diseases mainly manifest in adult life with progressive symptoms of chronic debilitating disease, often resulting in admissions to general wards. Huntington’s disease with mood and cognition problems in addition to physical symptoms, or acromegaly with arthritis, type 2 diabetes and cardiovascular disease, would benefit from multidisciplinary care.

Most patients with rare diseases access primary, secondary and tertiary care. Better coordinated “one-stop” care could save the NHS money by reducing emergency hospital admissions, duplicate investigations and outpatient visits (DH, 2012).

Some rare diseases are variants of conditions, including breast cancer, diabetes, osteoporosis, and renal and heart disease. Some are more common in certain parts of the world; for example cystic fibrosis is rare in Asia but more common in Europe. Many are progressive and incurable.

Approximately 80% of all rare diseases have a contributing genetic factor, including single gene, multifactorial or chromosomal defects (RDUK, 2013b). This makes it important to involve clinical geneticists or genetic counsellors and genetic testing in care packages. Compiling a family history is vital as relatives of patients with a known genetic mutation may need to undergo predictive testing (cascade testing), outpatient preventive clinical screening and treatment. The emotional and psychological impact of inherited diseases must be considered when caring for these patients and their relatives.

Early diagnosis improves the quality of life for both patients and their family and may allow therapeutic interventions to be started sooner (DH, 2012). However, many of these diseases are difficult to diagnose as they share symptoms with other common disorders (Wraith and Beck, 2012). Many patients do not receive a diagnosis or are misdiagnosed for much of their life. An RDUK (2010) report, highlights that:

  • 30% of patients received more than three incorrect diagnoses;
  • One in five waited longer than five years for a correct diagnosis;
  • 52% felt they did not receive enough information on their condition after being diagnosed.

The case study in Box 1 describes the patient and family journey from presentation of symptoms to diagnosis; it illustrates the complexity of these conditions.

Supporting patients

Burke et al (2007) found patients with rare diseases wanted health professionals to:

  • Have greater awareness of their condition;
  • Have greater willingness to consider the possibility of a genetic condition;
  • Refer patients appropriately; and
  • Take their concerns seriously.

An RDUK (2011) report identified the obstacles patients and families come up against when seeking individualised care, and makes a series of recommendations. It highlights that patients with rare diseases can present in any clinic, ward or GP surgery and deserve high-quality care from all health professionals. It is vital each centre knows its network of local hospitals, which should have systems in place to put patients on a pathway to the expert centre that will offer help, support, advice and assistance.

Patients with rare diseases have identified fragmented care and a lack of communication as major concerns; most turn to support groups for information (RDUK, 2011). Health professionals must provide clear, individualised information, recognising the emotional impact it may have, and be prepared to engage and communicate with other health professionals involved in complex care pathways.

It is also important not to see patients solely in terms of their rare disease. Caring successfully for them demands the ability to think laterally, especially in accident and emergency where they may present acutely with an unrelated condition (for example Addison’s disease with sudden hypotension and collapse due to lack of steroids). Health professionals must consider how the presenting disorder could affect the existing rare disease, or how the rare disease may have altered presentation of a common condition. Either scenario may adversely affect the patient journey (DH, 2012). Articles in this series will provide information about specific conditions.

“One-stop clinics” providing multidisciplinary care in a centre of excellence can optimise the care pathway of patients with rare diseases, but communication between them and local centres can be patchy. Time off work, travel costs and distance to a specialist clinic can also be burdensome so collaboration with local care providers is vital. It is also crucial that local health professionals know how to enlist specialist centre advice and support. Patient support and information groups play an important part in this dialogue (RDUK, 2013). Useful sources of information are listed in Box 2.


More than 5,000 rare diseases have been identified. They can affect anyone at any age, physical health, mental health or both. Patients and their families need care from a centre of excellence and wide-ranging support from other medical, nursing, diagnostics and social care professionals.

The UK Strategy for Rare Diseases is aiming to raise awareness of, and tackle the challenges posed by, rare diseases. Similar plans are in progress throughout Europe. Improved clinical pathways, transitional care and communication, collaboration with patient support groups, extended nursing and medical training, creation of national disease registers and heightened research awareness will all benefit patients with rare diseases.

● We are increasing general awareness of rare diseases by hosting the first national Conference for Rare Disease in the UK on 28 February 2014 (open to all health professionals). Visit for more details. This is also World Rare Disease Day (Join Together for Better Care) and will be celebrated internationally.

Key points

  • Rare diseases often present at birth or occur during infancy and childhood, and over 75% affect children
  • Early diagnosis improves the quality of life for both patients and families
  • One in five people wait longer than five years for a correct diagnosis
  • One-stop clinics providing multidisciplinary specialist care have transformed the management of some rare diseases
  • Health professionals need to know how to find information about rare diseases so they can support patients
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