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- Page navigation anchor for Dare to think rare. Diagnostic delay and rare diseasesDare to think rare. Diagnostic delay and rare diseasesI 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 rare disease patients, 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 health care field.For many rare disease patients 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, specialities and investigations. Indeed it is this complicated and sometimes fragmented care, poor communication and lack of a whole patient view, highlighted in this article, which can be the principle 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 generalist 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 endors...Show MoreCompeting Interests: None declared.