A 29-year-old doctor from Bristol, Ellie Irwin, had her eyesight saved after a cutting-edge test identified a mystery infection that had plagued her health for five years. The “game-changing” metagenomics test revealed a rare bacterial infection, leptospirosis, which was cured with antibiotics.
Ellie suffered persistent inflammation in her right eye, resulting in blurred vision. Despite multiple tests and treatments, including steroid eye drops and immunosuppressants, her condition persisted. She eventually reached “breaking point,” considering having her affected eye removed due to the treatment’s side effects.
However, after being offered a last-resort analysis called metagenomics, Ellie was diagnosed with the rare bacterial infection. A sample of fluid from her eye was sent to a lab in London, where it was analyzed using cutting-edge genomic sequencing technology.
The test identified all bacteria present in the sample and compared them against a database of millions of pathogens. The diagnosis was a breakthrough in the diagnosis of infectious diseases, according to Professor Carlos Pavesio, consultant ophthalmologist at Moorfields Eye Hospital.
Ellie’s condition improved rapidly after receiving antibiotics, and her vision cleared up within days. While metagenomics tests are currently expensive (£1,300), the technology is expected to become faster, cheaper, and more accessible in the future.
The diagnosis has allowed Ellie to focus on her training as a GP and arrange her wedding, which took place recently. Her case highlights the potential of metagenomics to transform patient care and revolutionize infectious disease diagnosis.
Source: https://www.bbc.com/news/articles/czx45vze0vyo