'Those with a rare disease often know more about it than we do'
It may seem an obvious thing to say but the problem with a rare disease is that it is rare.
Although there may be no need to point this out, many patients with such a disease who seek medical and nursing help find they have to battle, not only to be heard, but also to have their needs understood.
It’s not really surprising. Now, with the nursing profession becoming increasingly stretched, having the time to learn more about rare diseases is likely to move ever lower on a nurse’s to-do list. Does this mean we should change our approach to such patients? And perhaps be more open to acknowledging their own experience and expertise?
Within immunology, one such group of patients are those who suffer with hereditary angioedema (HAE), a condition that affects an estimated 1 in 50,000 people (Gompels et al, 2005). When you take into consideration the fact that asthma affects 1 in 12 people in the UK, you can see just how rare HAE is.
HAE is caused by either a lack, or poor function, of the C1 inhibitor protein. An acute attack of this condition results in subcutaneous swellings of the peripheries, gut and - most worrying for patients - life-threatening laryngeal oedema.
Prompt treatment in an acute setting will alleviate symptoms within 30 minutes to an hour. However, it is of some concern when patients still report that, during an acute attack, they have to spend time persuading health professionals what is wrong with them and what treatment they need. This is particularly the case for those who develop abdominal attacks, which are excruciatingly painful but lack any physical signs, such as swelling.
We must remember, not all nurses or doctors are experts in all areas of health-care. And nor would we expect them to be – that is the role of the specialists. But what is important is that we can recognise when we are outside of our field of expertise, be it in primary or secondary care, and ensure patients have access to the specialists and treatment they need. Such joint care will vastly improve the patient experience and ensure a sharing of knowledge about those conditions we do not see often (Hardy, 2004).
The focus must remain on patients and the knowledge they have about their diseases, which has developed over a lifetime. Although we must be wary, on occasion, of some things patients tell us – with the internet being responsible for some interesting, if not always accurate, information – those with a rare disease often know more about it than we do. We should acknowledge the expert patient with a rare disease or condition, relinquish some control, empower them and work in partnership with them to ensure effective, efficient and timely care.
Gillian Potter is immunology specialist nurse, Southampton University Hospitals Trust
Gompels MM et al (2005) C1 inhibitor deficiency: consensus document. Clinical and Experimental Immunology; 139: 3, 379-394.
Hardy P (2004) The Expert Patient Programme: A Critical Review. MSc lifelong Learning Policy and Research.
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