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Posts tagged ‘rare disease’

Why patient involvement in research matters

Jane Dunnage was forced to give up work due to the rare autoimmune condition systemic lupus erythematosus, also known as SLE or lupus. After 10 years of being a Trustee for the charity LUPUS UK she now leads patient involvement for the MRC-funded MASTERPLANS* study. She explains why research needs the patient voice.

Jane Dunnage (Image copyright: D Boyraz)

Jane Dunnage (Image credit: Derya Boyraz)

I had to give up my job in communications about 20 years ago because of the symptoms of lupus. It was affecting my eyes and my joints, and the fatigue was extremely disabling. I found it impossible to carry on working.

But it was another four or five years before I was actually diagnosed. I became a ‘pass the parcel’ around different consultants and departments for a year. Then somebody at long last recognised the link between the wide-ranging symptoms and said, “I think you have lupus”.

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Painless: a Q&A with Geoff Woods

Geoff Woods*

Geoff Woods (Image copyright: Geoff Woods)

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