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.
There’s a mismatch between some individuals benefiting from futuristic advances in treatment or diagnostics and others who can’t even expect to walk into their clinic appointment and be believed.
The healthcare sector has been challenged beyond imagination in the last few years and has few resources left. With queues for ambulances, and people not receiving basic care, it begs the question of how can we justify spending more resources on rare diseases? Well, because every person living with a rare condition has just as much right to dignified, well-informed and appropriate healthcare as anybody else.
The impact of the “hear hooves, think horse not zebra” mantra, or “common things are common”, contributes to diagnostic delays in rare diseases. This is why I founded Medics4RareDiseases, which is educating medical professionals to improve patient experience.
Dr Lucy McKay
Medics4RareDiseases
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