Stewart S, Peers K (2013) Rare diseases 1: what do you need to know? Nursing Times; 45, 12-14
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.
THIS ARTICLE WILL TELL YOU ABOUT
- What rare diseases are and the extent of the problem
- Why health professionals need to know about rare diseases
- How to improve the care of patients with rare diseases
YOU WOULD BE LIKELY TO REFERENCE THIS ARTICLE IF YOU WERE RESEARCHING:
As the title suggests, this article would help to inform essays on rare diseases. It talks in some detail about genetics and family links and advises on how health professionals can approach the idea of family testing – it could be useful for essays on difficult conversations with patients.
IN WHAT SITUATIONS WILL THIS ARTICLE BE USEFUL FOR ME?
You are likely to come across a patient with a rare, or genetic, disease during your career. This article gives some background on why they occur, genetic links and advice on management, including when to refer to a specialist.
QUESTIONS FOR YOUR MENTOR/TUTOR
Are there are any specialist centres for rare diseases in the area?
Where can you refer people for genetic counselling?
STUDENT NT DECODER
Symptoms that continue to worsen – particularly if no treatment is given.
Contributing genetic factor
If a disease has a “contributing genetic factor” then there is more likely to be a family link as genes play some role in determining whether or not individuals develop the disease.