The mantra of ‘hear hooves, think horse not zebra’ is greatly contributing to diagnostic delays and poor patient experience, says Dr Lucy McKay
Thank you for highlighting the Hughes’s story about having a family member with an undiagnosed condition (‘Nobody knows what’s wrong with me’ – life with an undiagnosed condition, 6 December). The stories are all too familiar to me and motivate my work every day. I am a second-generation rare disease advocate. My brother died of a rare genetic condition before I was born. My mum founded a charity to connect families and drive research on this condition back in the 1980s. Now my brother’s condition has a treatment.
I have watched on the sidelines as the prospects in rare diseases have changed enormously since my childhood. But one thing has changed very little – education for medical professionals. I know this because I trained as a doctor in the UK. I experienced first-hand the way anything rare is marginalised in medical education – in contrast to the government’s drive to bolster the health sciences industry.
