What’s the evidence 30.1

Jolles et al. (2014) cite the case of a 19-year-old male who presented to his GP at the age of 4 with a chronic cough, sinusitis and post-nasal drip. He has a tonsillectomy, adenoidectomy, insertion of grommets and a hearing aid. Over the subsequent 15 years he had admissions for pneumonia, suffered 12–15 infections annually, had visited his GP approximately 180 times, and lost 50–60 days of schooling. The average diagnostic delay for Common Variable Immune Deficiency is reported at between 5 and 8 years (Edgar et al. 2013). What strategies could be used to reduce this delay?

Rare diseases, by their very nature are difficult to diagnose. We need to see symptoms repeatedly to associate them with a common diagnosis. If a disease is very seldom seen, it will not be at the forefront of your mind and the strategy adopted to counteract this knowledge deficit depends on your particular nursing role. As a specialist nurse, you could seek to raise the profile of the rare diseases that you manage by using existing media attention or communicating with local policy makers and politicians. Training colleagues and using meaningful interactions as teaching opportunity is an excellent way of increasing knowledge of rare disease. As a general nurse, for example, in a GP surgery, it is important to recognise the patterns of an undiagnosed illness. The case study cited highlights the danger of repeated attendances going unnoticed – it is likely that the patient saw multiple healthcare professionals before finally getting a diagnosis. It also highlights the importance of person centred care: listening to your patient and taking a careful, thorough and far reaching history when appropriate. If you are concerned about symptoms, think critically, examine all of the evidence available to you and follow up on warning signs.