A Decade of Illness and Unclear Cause: ChatGPT Suggests a Genetic Mutation}
A Reddit user shares how ChatGPT analyzed their decade-long health issues, identifying a gene mutation as the likely cause, highlighting AI’s potential in personal healthcare diagnostics.
Using AI for self-diagnosis is becoming a new trend, but human doctors are still essential.
After ten years of health discomfort and no diagnosis from doctors, ChatGPT provided an analysis. This is a personal story recently shared by a Reddit user.
The user mentioned:
For over a decade, I’ve been troubled by various unexplained symptoms. I underwent spinal MRI, CT scans, extensive blood tests (including deep testing), and even Lyme disease tests, but nothing was found.
Later, through the Function Health platform, I discovered I carry a homozygous A1298C MTHFR gene mutation—affecting 7%-12% of the population. Despite being in a top US medical network and seeing neurologists for multiple sclerosis, the cause remained elusive.
ChatGPT integrated all my lab reports and symptom history, and its analysis matched the gene mutation closely. It explained that even if B12 levels seem normal, this mutation can impair body utilization, requiring supplements.
I showed these results to my doctor, who was stunned and said all my symptoms suddenly made sense. I wonder how they didn’t think to test for MTHFR mutations earlier.
Months later, my symptoms have mostly disappeared. The whole experience still feels incredible and full of surprises.
This post became very popular on Reddit, with many commenters sharing similar stories.
For example, one user mentioned vomiting for over 15 years, despite all tests and recent diagnosis of anxiety. Although medication helped, vomiting persisted. They asked ChatGPT for advice, then visited an ENT doctor (due to dizziness), and finally found the problem, seeing hope for recovery.
Another user shared that their dog was taken to the vet, but the vet was helpless and suggested saying goodbye. ChatGPT advised them to go to an emergency vet for heart issues, saving the dog’s life.
Many similar stories are in the comments. Although the authenticity of these stories varies, a clear trend is that more people are turning to AI for medical advice, especially when causes are unclear.
The reasons include the shortage and uneven distribution of quality medical resources, making deep diagnosis difficult for doctors. Also, AI has made significant progress in quickly retrieving and synthesizing vast medical literature, providing more comprehensive information for doctors and patients.
For rare diseases, even experienced doctors can have blind spots. Many complex symptoms require multidisciplinary collaboration, which is costly under current healthcare systems.
This is where ChatGPT can play a crucial role: helping patients organize their medical journey (initially determining which specialist to see), assisting doctors in identifying difficult cases, and making diagnosis and treatment more personalized.
Currently, companies like Microsoft are developing dedicated products to meet this demand, and their performance looks promising.
However, the poster also reminds: “I confirmed with my doctor before following AI advice. Do not blindly trust AI’s medical suggestions.”
His warning is valid, as current AI still suffers from hallucinations and can produce seemingly reasonable but incorrect advice. AI cannot be responsible for misdiagnoses, and doctors must adhere to ethical and legal standards. So, if you consult AI for medical advice, remember that the final diagnosis and treatment should always be made by human doctors, with AI providing reference.
In the foreseeable future, most doctors may use AI as an “external brain” to help more patients find the right treatment.
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