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AI Aids Rare Disease Diagnosis for Toddler
25 Sep
Summary
- Lily, 19 months, diagnosed with rare genetic condition MSMDS.
- AI chatbot ChatGPT suggested the rare diagnosis to parents.
- Family launches charity to fund research for a potential cure.
A 19-month-old girl from Bath, Lily, has received a diagnosis for Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), a rare genetic disorder impacting only 70 individuals globally. Her parents, Rosie and Jonny, shared that inputting Lily's symptoms into the AI chatbot ChatGPT led them to consider MSMDS, a suggestion initially met with skepticism by some medical professionals. This condition, caused by a specific gene change, affects vital organs like the heart and kidneys.
Lily's family has established the ACTA2 Alliance UK charity to spearhead research for a cure, with international efforts led from Boston, USA. They are also exploring less invasive gene therapy options with researchers in England, aiming to raise £30,000 for a proof-of-concept trial. Currently, Lily receives specialized care at Great Ormond Street Hospital and Bristol Royal Hospital for Children.
