The family of a 19-month-old girl from Bath says an AI chatbot helped them find a diagnosis for her rare genetic condition.
Lily has Multisystemic Smooth Muscle Dysfunction Syndrome, known as MSMDS. The condition affects only six people in the UK.
Her mother, Rosie, said she entered Lily's symptoms into ChatGPT. The chatbot suggested MSMDS.
A Long Search for Answers
Lily had surgery for an unknown heart condition when she was four months old. Tests in January finally confirmed she has MSMDS.
When Rosie first raised the possibility with doctors, the response was mixed. She said "some of them had never heard of it; others said it is so rare it's very unlikely."
MSMDS is caused by a specific change in the ACTA2 gene. It affects organs such as the heart and kidneys.
Along with the heart condition, Rosie said Lily's pupils were always dilated. Lily now needs to wear sunglasses when she is outdoors.
Lily is one of only 70 people known to have the condition worldwide. She is under the care of Great Ormond Street Hospital and Bristol Royal Hospital for Children.
The BBC contacted both hospitals, but neither responded.
Experts Urge Caution on AI
Nick Meade, chief executive of Genetic Alliance UK, said he would "urge caution" about using ChatGPT. He said rare diseases are particularly affected by problems in AI models.
"Machine learning models learn mainly from whatever appears most often in their training data," Meade said. "This is a well-documented problem in AI, and rare conditions are, by definition, the kind of case it affects most."
Meade added that Lily's case was unusual. His group is not aware of many diagnoses made as a result of AI.
Research published by the University of Oxford earlier this year raised similar concerns. Dr Rebecca Payne, a co-author of the study and a GP, previously told the BBC that "despite all the hype, AI just isn't ready to take on the role of the physician."
She warned that asking a large language model about symptoms "can be dangerous, giving wrong diagnoses and failing to recognise when urgent help is needed."
NHS England was approached for comment.
Lily's parents, Rosie and Jonny, have set up a charity called ACTA2 Alliance UK to fund research into the condition.
They said international research into treatments and a cure is being led from Boston, in the US. Other approaches are also being explored in the UK.
The family is aiming to raise £30,000 toward a proof of concept study for another treatment option in England.
Lily's grandfather, Andy, said the family also wants to raise awareness to "identify patients to build up data."
"We feel we are on a bit of a ticking time bomb because it is a progressive condition," he said.
This week, the family held a move-a-thon to raise money for research. They are asking people to log every mile they walk, run, swim or dance to cover the 3,300 miles from Bath to Boston.
