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How ChatGPT Exposed A Decade-Long Medical Issue That Confused Doctors Worldwide?

A Reddit user revealed how ChatGPT solved a 10-year medical mystery by identifying the homozygous A1298C MTHFR mutation, which had eluded doctors. After consulting with their physician, the user began B12 supplementation, resulting in significant improvement. The user stressed the importance of verifying AI advice with healthcare professionals, sparking debates on AI’s role in healthcare.

Published By: Ankur Mishra
Last Updated: July 6, 2025 21:17:17 IST

AI chatbot developed by OpenAI has helped doctors to solve a decade long medical mystery. A recent Reddit post has gone viral after a user shared how ChatGPT has successfully turned a nightmare into a sorted diagnosis. The user with the handle @Adventurous-Gold6935 has suffered from various unexplained symptoms for over ten years. Despite consulting various doctors and medical specialists who have prescribed various tests including CT scans, MRI, and Lyme disease screenings, there has been no evidence of the disease. 

AI suggestion created a landmark

However, when the user entered their full medical history into ChatGPT, there brings the revolution. The AI suggested they might have the homozygous A1298C MTHFR mutation, a genetic condition affecting 7-12% of the population. ChatGPT noted that even with normal B12 levels, the mutation can hinder proper utilization of B12, leading to health issues. The user’s doctor, upon reviewing the AI’s insights, was “super shocked” and confirmed the suggestion was accurate.

Application of the AI generated Advice

After starting B12 supplementation as recommended by ChatGPT, the user reported a dramatic improvement in their condition. However, consultation with the doctor was what the user have emphasized upon before the application of the AI-generated advice. Moreover, the user urged others not to rely solely on AI for medical decisions. Proper consultation with the Doctor is always advisable.

This story has sparked broader discussions about AI’s potential in healthcare. While AI can be a valuable tool in identifying rare conditions, it should always complement, not replace, professional medical expertise.

Also Read: Meta’s Mark Zuckerberg Unveils ‘Superintelligence Labs’ Amid AI Talent Battle as Stocks Spike

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