British woman was about to have her inflamed eye removed. A rare test saved her

A woman in the UK who had been suffering from inflammation in one eye for five years and was even considering getting the eye removed was finally saved by a test that is generally not made available to patients. Ellie Irwin was offered the metagenomics analysis, and the test led to her being diagnosed with a rare bacterial infection. She is thankful that the "last resort" saved her from going blind in one eye.

Metagenomics technology uses genomic sequencing to identify all bacteria, fungi or parasites in a sample by comparing them against a database of millions of pathogens.

Irwin told the BBC that she suffered from persistent inflammation in her right eye, resulting in blurred vision. All her tests for an infection came back negative. The problem started when she was in medical school in 2019. Since the tests did not confirm an infection, Ellie was believed to be suffering from an autoimmune condition.

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She was prescribed steroid eye drops and immunosuppressants. Some of these were administered intravenously. "I needed eye drops every single hour, and it was difficult to balance that alongside starting work as a junior doctor," she told the BBC.

The inflammation and the treatment made things worse for her. She developed a cataract in the eye, which was surgically removed. Things weren't getting for her despite the treatments, and so she contemplated having her eye removed. She was scared that the problem might spread to her good eye also.

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A sample of fluid from Ellie's eye was taken by a team of doctors at Moorfields Eye Hospital, which was sent to the metagenomics labs at Great Ormond Street Hospital (GOSH). This is the UK's only officially recognised lab to carry out the test. 

Ellie was found to be carrying a rare strain of the bacterial infection leptospirosis found in South America. She is believed to have picked it up while swimming in the Amazon River in 2018 during her trip to Ecuador and Colombia.

Ellie was prescribed antibiotics for three weeks, and she started improving. The inflammation went down, and her vision improved. 

A single metagenomics test costs around £1,300 ($1,742). In contrast, a standard diagnostic costs way less. Ellie's case has shown how impactful metagenomics can be while diagnosing infections, and as technology develops, the price is expected to fall rapidly.