{"id":2164662,"date":"2026-09-25T05:20:56","date_gmt":"2026-09-25T02:20:56","guid":{"rendered":"https:\/\/analyse.optim.biz\/?p=2164662"},"modified":"2026-09-25T05:20:56","modified_gmt":"2026-09-25T02:20:56","slug":"bath-mum-says-ai-helped-diagnose-her-daughters-rare-condition","status":"publish","type":"post","link":"https:\/\/analyse.optim.biz\/?p=2164662","title":{"rendered":"Bath mum says AI helped diagnose her daughter’s rare condition"},"content":{"rendered":"

[analyse_image type=”featured” src=”https:\/\/ichef.bbci.co.uk\/news\/1024\/branded_news\/6cdc\/live\/67ec5ab0-b683-11f1-97fb-8d66d3951490.jpg”]<\/p>\n

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\"FamilyFamily handout<\/span><\/div>\n<\/div>\n
Lily’s mum Rosie says she put her daughter’s symptoms into ChatGPT<\/figcaption><\/div>\n<\/figure>\n<\/div>\n<\/div>\n
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The family of a 19-month-old girl with a rare genetic condition affecting only six people in the UK say AI helped them to gain a diagnosis.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Lily, from Bath, had surgery for an unknown heart condition at four months old. In January tests finally revealed she has Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS).<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Her mum, Rosie, said she put Lily’s symptoms into ChatGPT, which came up with MSMDS, but when she told doctors, “some of them had never heard of it; others said it is so rare it’s very unlikely”.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Nick Meade, chief executive at Genetic Alliance UK, said he would “urge caution” using ChatGPT as rare diseases are particularly affected by AI modelling problems.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Research published by University of Oxford earlier this year echoed Meade’s warning. <\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Dr Rebecca Payne, who co-authored the study, previously told the BBC that research found “despite all the hype, AI just isn’t ready to take on the role of the physician”.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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“Patients need to be aware that asking a large language model about their symptoms can be dangerous, giving wrong diagnoses and failing to recognise when urgent help is needed,” Dr Payne, who is also a GP, added.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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MSMDS is caused by a specific change in the ACTA2 gene and affects organs such as the heart and kidneys. <\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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As well as the heart condition, Rosie said Lily’s pupils were always dilated. She now needs to wear sunglasses when outdoors.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Lily is one of only 70 people known to have the condition worldwide.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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She is under the supervision of Great Ormond Street Hospital and Bristol Royal Hospital for Children. <\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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The BBC has contacted the hospitals, but neither has responded.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Lily’s parents, Rosie and Jonny, have set up a charity, ACTA2 Alliance UK, to fund research into the condition.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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They said international research into potential treatments and a cure is being led from Boston, America, while other promising approaches are also being explored in the UK.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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“We are speaking to some people in England about research into other treatment options, so that’s one of our current targets of \u00a330,000 to raise towards that for a proof of concept, so we’re really hoping that can be another option, alongside the incredible work already happening internationally,” Rosie added.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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\"FamilyFamily handout<\/span><\/div>\n<\/div>\n
Lily is one of only 70 people worldwide to have Multisystemic Smooth Muscle Dysfunction Syndrome<\/figcaption><\/div>\n<\/figure>\n<\/div>\n<\/div>\n
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This week, the family held a move-a-thon to help raise money for research and is asking people to log every mile they step, dance, swim, walk, or run to help cover the equivalent of the 3,300-mile distance from Bath to Boston.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Lily’s grandfather, Andy, said they also wanted to raise awareness of the condition to “identify patients to build up data”.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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“We feel we are on a bit of a ticking time bomb because it is a progressive condition. We’re on a journey to find a cure, and we’re funding vital medical research that could lead to that,” he said. <\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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‘We’d urge caution’<\/h2>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n
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Meade stressed that Lily’s case was rare and Genetic Alliance UK is not aware of many diagnoses being made as a result of AI.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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“While we welcome AI’s potential to improve outcomes for families, we’d also urge caution. Machine learning models learn mainly from whatever appears most often in their training data,” he said.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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“This is a well-documented problem in AI, and rare conditions are, by definition, the kind of case it affects most.”<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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NHS England was approached for comment.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Follow BBC Somerset on <\/i>Facebook<\/i> and <\/i>X<\/i>. Send your story ideas to us on email or via <\/i>WhatsApp on 0800 313 4630<\/i>.<\/i><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/article>\n

[analyse_source url=”https:\/\/www.bbc.com\/news\/articles\/cm4g5yp0ng85o”]<\/p>\n","protected":false},"excerpt":{"rendered":"

[analyse_image type=”featured” src=”https:\/\/ichef.bbci.co.uk\/news\/1024\/branded_news\/6cdc\/live\/67ec5ab0-b683-11f1-97fb-8d66d3951490.jpg”] Family handout Lily’s mum Rosie says she put her daughter’s symptoms into ChatGPT The family of a 19-month-old girl with a rare genetic condition affecting only six people in the UK say AI helped them to gain a diagnosis. Lily, from Bath, had surgery for an unknown heart condition at four months […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[2],"tags":[35],"class_list":["post-2164662","post","type-post","status-publish","format-standard","hentry","category-politics","tag-bbc-com"],"_links":{"self":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/posts\/2164662","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=2164662"}],"version-history":[{"count":0,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/posts\/2164662\/revisions"}],"wp:attachment":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=2164662"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=2164662"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=2164662"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}