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.
