Ellie Irwin had a rare bacterial eye infection which had been causing problems for five years.
Before the new genomic service at Great Ormond Street Hospital (Gosh), experts were unable to identify the cause of the problem, which left her considering whether or not to have her eye removed.
But the so-called metagenomics team at Gosh was able to identify the cause of the problem using a catch-all genetic test.
Scientists found Dr Irwin’s issues had been caused by a rare bacterial infection and after a course of antibiotics her symptoms began to clear, restoring her eyesight in time for her wedding earlier this year.
The 29-year-old doctor, from Bristol, said: “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.”
Dr Irwin started to have problems in her right eye in 2019 when she was a medical student.
She was initially diagnosed with a condition which causes inflammation in the eye and despite treatment her symptoms worsened.
A horde of tests looking for infections had come back negative.
“I had really just reached my breaking point; my team had tried every test to find a cause and the intensive treatments and multiple appointments were severely impacting my life,” Dr Irwin said.
“I had got to the point that I began to discuss with my team my wish to have the affected eye removed.”
Her doctors at Moorfields Eye Hospital in London reached out to the metagenomics team at Gosh.
A sample from her eye revealed Dr Irwin had a very specific strain of leptospirosis, a bacterial infection, in her eye.
“When they told me they had found a treatable infection it really changed my life,” she said.
Dr Irwin was given a three-week course of antibiotics and in March was able to celebrate her wedding infection-free.
The metagenomics team uses a sequencing technique which identifies bacteria and other types of infections and viruses from patient samples.
The test is “untargeted”, meaning that it can look for all types of infections, rather than a test for a single infection.
Currently the service is used as a final option when medics have already exhausted all alternatives to identify a suspected infection.
The service currently analyses six samples a week from patients around the country.
Judith Breuer, professor of virology at University College London (UCL) and honorary consultant virologist at Gosh, said: “We have been developing our metagenomics service at Gosh and UCL for over 10 years now and we are incredibly proud to be the first UK accredited service.
“We are now able to offer this vital genomic testing to patients around the country, and it is amazing to see the impact it is already having for patients like Ellie.”
Carlos Pavesio, consultant ophthalmologist at Moorfields Eye Hospital, said: “We are delighted that this new service enabled us to identify Ellie’s infection and treat it.
“As a result of this, we were able to address the source of her recurrent inflammation.
“We are excited about the opportunities this opens up and have already initiated a clinical trial on the use of metagenomics for hard-to-diagnose eye infections.”
