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AI Pinpoints Rare Diagnosis After Years of Misdiagnosis
7 Apr
Summary
- AI tool identified Hereditary Spastic Paraplegia as a potential diagnosis.
- Patient experienced symptoms including stiff legs and hair loss for years.
- A rare inherited disorder affects the patient's four limbs progressively.
Phoebe Tesoriere, a 23-year-old woman from Cardiff, utilized artificial intelligence to uncover her diagnosis of Hereditary Spastic Paraplegia after a four-year period of being misdiagnosed with various conditions, including anxiety and Todd's Paralysis.
She inputted her symptoms, such as stiff legs and hair loss, into ChatGPT, which indicated Hereditary Spastic Paraplegia. This led her to consult her GP, who initiated genetic testing, confirming the quadriplegic type of the rare inherited disorder.
The condition causes progressive weakness and stiffness in the leg muscles, now affecting all four of Phoebe's limbs. Due to its impact, she can no longer work as an SEN teacher and is fundraising for a specialized wheelchair to aid her independence.
Despite experiencing a seizure in 2025 that resulted in a two-day coma, and earlier indications of nerve deterioration in an MRI from when she was 15, her symptoms were consistently attributed to other causes. Doctors are working to slow the progression of the disease, as there is no cure.
