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AI Aids Diagnosis of Ultra-Rare Genetic Disorder
12 Oct
Summary
- AI chatbot helped diagnose an extremely rare genetic disorder.
- The disorder, MSMDS, affects approximately 70 people worldwide.
- Diagnosis led to specialized monitoring and treatment plans.
A UK mother turned to artificial intelligence when faced with multiple health issues affecting her infant daughter, Lily. After Lily experienced problems with her heart, bladder, and eyes, including undergoing open-heart surgery, her mother, Rosie Griffiths, used ChatGPT to explore potential underlying causes.
Within minutes, the AI suggested Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), an extremely rare genetic disorder affecting smooth muscle throughout the body. This suggestion prompted further investigation, leading to genetic testing which confirmed Lily had the ACTA2 R179H mutation associated with MSMDS in January 2026.
MSMDS is believed to impact only around 70 individuals worldwide. While devastated by the diagnosis, Rosie believes the early identification, facilitated by AI, is crucial for Lily's ongoing management. The family is now actively involved in fundraising for research to find better treatments for this ultra-rare condition.
