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Full Breakdown

AI Chatbot Aids in Diagnosis of Rare Condition for Misdiagnosed Patient

4/10/2026, 5:07:54 AM

Uncovering the Diagnosis

Phoebe Tesoriere, a 23-year-old from Cardiff, has experienced a long and challenging journey to receive a correct diagnosis for her rare condition, hereditary spastic paraplegia. After years of being misdiagnosed with various ailments, including anxiety, depression, and epilepsy, Phoebe turned to the AI chatbot ChatGPT for assistance. Following a significant seizure that left her in a coma for three days, she input her symptoms into the chatbot, which suggested hereditary spastic paraplegia as a potential diagnosis. Subsequent genetic testing confirmed this condition.

Background of Misdiagnosis

Phoebe's medical history includes a limp from childhood due to being born without a hip socket, which led to multiple surgeries. Despite her struggles with balance and previous tests for dyspraxia, she was repeatedly dismissed by healthcare professionals. At 19, after collapsing at work, she was told her symptoms were due to anxiety, a diagnosis she contested given her previously happy demeanor. In 2022, she was misdiagnosed with epilepsy and prescribed medication, which she could not tolerate, leading to further seizures and misdiagnosis with Todd's Paralysis.

Official Responses and Perspectives

Dr. Rebeccah Tomlinson, a GP in Cardiff and Vale of Glamorgan, emphasized the importance of patients discussing AI-generated health information with medical professionals. She noted that while AI tools can serve as helpful starting points for discussions, they should not replace professional medical advice. The Cardiff and Vale University Health Board expressed regret over Phoebe's experience but stated they could not comment on individual cases.

Criticism of AI in Healthcare

The use of AI in healthcare remains a contentious issue. While OpenAI, the developer of ChatGPT, has launched features aimed at analyzing medical records to provide better answers, concerns persist regarding the appropriateness of AI for diagnosis and treatment. Critics argue that reliance on AI could lead to further misdiagnosis or misunderstanding of medical conditions. Nonetheless, millions of users, including Phoebe, are increasingly turning to AI for health-related inquiries.

Impact on Life and Future Aspirations

Due to her condition, Phoebe is unable to continue her work as a special educational needs teacher and now uses a wheelchair. However, she remains determined to help others and is pursuing a master's degree in psychology. She reflects on her experience, stating, "I had to fight to be listened to," highlighting the emotional toll of her medical journey.

Conclusion

Phoebe Tesoriere's case illustrates the potential of AI tools like ChatGPT to assist in medical diagnosis, especially in instances where patients feel unheard by traditional healthcare systems. As the debate over AI's role in healthcare continues, Phoebe's story underscores the importance of collaboration between patients and medical professionals in navigating complex health issues.