A doctor in England who was about to lose her eye made a remarkable recovery after a new genomics lab helped save her vision—just in time for her wedding.
Dr Ellie Irwin suffered persistent inflammation in her right eye for the past five years. With no remedy in sight, she decided to have her eye removed. It was only after Ellie was offered a “last resort” analysis called metagenomics that she was diagnosed with a rare bacterial infection which was cured with antibiotics, the BBC reported.
Metagenomics technology uses advanced gene sequencing to detect all bacteria, fungi, or parasites in a sample by matching them with a vast database of known pathogens.
A sample of fluid from Ellie’s eye was sent to the metagenomics labs at Great Ormond Street Hospital (GOSH)—the only lab in the UK officially recognised to carry out these diagnostic tests for patients. The results showed that Ellie had a rare strain of the bacterial infection leptospirosis found in South America.
Following a targeted course of antibiotics, her symptoms began to recede, and her vision remarkably returned, allowing her to see clearly on her wedding day earlier this year.
When Ellie received the test results, she described it as an emotional moment. “I broke down – I just had to cry. I never imagined that it would come back positive and be for something that was treatable,” she told BBC.
“I will never be able to thank the teams that continued to fight to find answers for me enough. Metagenomics has truly been game-changing for me. I spent Boxing Day of 2023 in hospital, thinking about whether it was time to have my eye removed. Now I can’t even imagine being back in that place, I am able to get back to focusing on my life – being able to have that for my wedding day is a priceless gift,” she told The Independent .
Professor Carlos Pavesio, consultant ophthalmologist at Moorfields Eye Hospital in London, says Ellie’s case is a “breakthrough in the diagnosis of infectious diseases”.
A single metagenomics test can cost nearly 2 lakh rupees (£1,300). The metagenomics service is used as a final option when medics have already exhausted all alternatives to identify a suspected infection. It currently analyses six samples a week from patients in and around the UK.
