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Story summary
- Sharon Burstin lived with Refsum disease for 51 years before her diagnosis and seeks to raise awareness among general practitioners.
- Refsum disease affects approximately one in a million people in the UK.
- A study of 23 patients showed an average 11-year delay in diagnosis, all presenting with retinitis pigmentosa (RP).
- RP, affecting one in 4,000 globally, is an inherited eye disorder causing various vision loss types.
- Greater awareness of rare disorders like Refsum could enhance diagnosis rates and improve patient quality of life.
