The family of a 19-month-old girl from Bath, Lily, states that an AI chatbot helped them gain a diagnosis for her rare genetic condition. Lily, who had surgery for an unknown heart condition at four months old, was diagnosed with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) in January.
Her mother, Rosie, said she entered Lily's symptoms into ChatGPT, which suggested MSMDS. However, when she informed doctors, some had not heard of it, while others considered it too rare to be likely.
Nick Meade, chief executive at Genetic Alliance UK, urged caution regarding the use of ChatGPT, noting that rare diseases are particularly affected by AI modelling problems. Research from the University of Oxford earlier this year echoed this warning, with Dr Rebecca Payne stating that AI is not yet ready to take on the role of a physician and can give wrong diagnoses.
MSMDS is caused by a change in the ACTA2 gene and affects organs such as the heart and kidneys. Lily is one of only 70 known cases worldwide and one of six in the UK. Her parents have established a charity, ACTA2 Alliance UK, to fund research into the condition, with international research into potential treatments and a cure being led from Boston, America.