Your browser is no longer supported

For the best possible experience using our website we recommend you upgrade to a newer version or another browser.

Your browser appears to have cookies disabled. For the best experience of this website, please enable cookies in your browser

We'll assume we have your consent to use cookies, for example so you won't need to log in each time you visit our site.
Learn more

Practice comment

'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


Readers' comments (2)

  • As a nurse - and a sufferer of a rare condition (admittedly not life-threatening) - I can only wholeheartedly endorse Gillian Potter's points above that, in some situations, it is undoubtedly true that patients know more than healthcare professionals about their condition. Similarly, they know about the treatments that are needed (or not). I'm lucky that my GP recognises this and trusts me to give him appropriate and relevant advice. How different it is with nurses who look sceptical at the mention of something they have never heard of - one even told me quite categorically that 'there is no such condition' -if only that were true. This has significant implications for my care, treatment and general well-being - and there is nothing like being effectively called a liar for enhancing one's quality of life and self-esteem.

    What is it with some nurse who think that they know everything there is to know about everything? No-one can be that good! Is it just possible that sometimes you may be wrong - that something you think is impossible is actually possible and that patients might know more than you?

    We are expected to take account patient's view of their condition and its treatment - isn't it time that we actually did so and recognised the role of the patient as the expert in their condition - whatever its nature?

    Come on nurses, value you patients and their expertise - they may actually save you a lot of time and heartache - and you might actually learn something from them. Take advantage of this source of expertise - this can only be to your benefit in the long run.

    Unsuitable or offensive? Report this comment

  • It is excellent when patients are well informed about their condition and the treatment because they are the most familiar with their own symptoms, their needs and how the respond to treatment. this applies to any condition and not only to rare diseases.

    So much information is now available that no nurse can be expected to know it all or pretend that they no best. one should, and hopefully nurses and other healthcare professionals do, listen and learn from patients as well and acknowledge their experience.

    Unsuitable or offensive? Report this comment

Have your say

You must sign in to make a comment

Please remember that the submission of any material is governed by our Terms and Conditions and by submitting material you confirm your agreement to these Terms and Conditions. Links may be included in your comments but HTML is not permitted.