I welcome the Debate and Analysis piece ‘Preventing gatekeeping delays in the diagnosis of rare disease’ by Esther de Vries and colleagues.1 Discussion about how we can improve the diagnostic delay for patients with rare diseases, on average 4.8 years,2 is much needed.
The use of the term ‘Gatekeeper’ is often associated with negative connotations, simply preventing the patients accessing the health care they need. I see the ‘gatekeeper’ role as more collaborative, navigating the patient through a complicated healthcare field.
For many patients with rare diseases, their ‘diagnostic odyssey’ has little to do with delayed referral from primary care; rather, the diagnostic delay is despite referral and involvement of multiple clinical centres, specialties, and investigations. Indeed, it is this complicated and sometimes fragmented care, poor communication, and lack of a whole patient view, highlighted in this article, that can be the principal barrier to diagnosis. The information to make a diagnosis is available but not joined up.
It is in this capacity that we as primary care physicians, perhaps the last true generalists with a whole-person approach, can see through this fragmented noise and join the dots. De Vries et al discuss the use of ‘gut feeling’ identifying divergent patterns as the prompt for further enquiry.1 I strongly endorse this approach. Knowledge of all 6000–8000 rare diseases,3 increasing each week, is impossible for any one individual. The response ‘How can we know about all rare disease?’ is not only true but also feeds into the cognitive barrier that prevents clinicians contemplating a rare disease at all.
Simply following one’s ‘gut feeling’, asking is there a more plausible explanation that may include a rare disease, is the first step. Help with where to go next is normally readily available from local clinical genetic departments or, if appropriate, metabolic centres; there are also useful web-based rare disease search engines such as omim.org and findzebra.com, into which simply typing clinical features gives a list of differential diagnoses.4
But the first step is to remember: ‘Dare to think rare.’
- © British Journal of General Practice 2018