Ellie Irwin (2014) - Sight Breakthrough

Ellie Irwin, a 29-year-old doctor from Bristol and a former Freemen's student who left in 2014, suffered for five years from persistent inflammation in her right eye that caused blurred vision and greatly disrupted her life. Despite numerous tests, doctors were unable to identify the cause, and she was treated for a presumed autoimmune condition with steroids and immunosuppressants. The treatments were demanding and intrusive, even leading to cataract surgery, and at one point Ellie considered having her eye removed out of fear the condition might spread.

Her breakthrough came when a doctor suggested a metagenomics test, a cutting-edge diagnostic tool that uses genomic sequencing to identify all bacteria, fungi, or parasites in a sample. A fluid sample from her eye was sent to the Great Ormond Street Hospital lab, the only UK facility officially carrying out the test.

The results revealed a rare strain of leptospirosis, a bacterial infection likely contracted while swimming in the Amazon during a 2018 trip to Ecuador and Colombia. After a three-week course of antibiotics, Ellie’s vision improved dramatically and the inflammation subsided.

Metagenomics, while currently costly at around £1,300 per test, is expected to become faster, cheaper, and more widely available. Experts say it has the potential to revolutionize infectious disease diagnosis, particularly for rare or previously unknown infections.

With her eye problems resolved, Ellie has been able to focus on her GP training and personal life, including getting married in Newcastle on in March 2025.

Experts involved in her care describe the case as a “breakthrough” and a glimpse of the transformative potential of genomic-based diagnostics in medicine.