How can studying rare diseases help those with more common conditions? To mark Rare Disease Day, Ellen Charman speaks to Professor Geoff Woods about how his discovery in Pakistan of a disease in which people don’t feel pain could lead to treatments for those who experience too much.
Can you tell me about this condition, congenital analgesia?
I first came across the condition when I was in Pakistan researching encephalopathy (diseases of the brain) and I was asked to see a boy who reportedly did not feel any pain. He was doing street theatre to earn money — walking across hot coals and putting daggers in his arms, and then going to the local children’s hospital to get patched up. Sadly, before I got the chance to see him, he’d jumped from a roof to amuse friends and walked away from it, but later died from a bleed in the brain.
When I came back to the UK, I asked around and found two families also affected by the condition. At first, due to the common inclination towards risky and dangerous activities, I assumed that those with the condition had a degree of intellectual disability; however, I later found their development to be normal, but without the sense of pain to modulate their behaviour. Read more