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ChatGPT Prompt Leads Cardiff Teacher to Confirmed Diagnosis of Rare Neurological Disorder

The case underscores how a consumer AI prompt can shorten a long path to a rare diagnosis.

Overview

  • Phoebe Tesoriere, 23, entered her symptoms into ChatGPT after years of misdiagnosis, and the tool suggested Hereditary Spastic Paraplegia.
  • She took the AI prompt to her GP, underwent genetic testing, and doctors confirmed a complex quadriplegic form of the condition.
  • Earlier assessments had labeled her symptoms as anxiety and Todd’s paralysis, even after a seizure left her in a 48-hour coma and she struggled to walk.
  • The diagnosis has left her unable to work, reliant on her partner for daily care, and fundraising for a specialist wheelchair that standard NHS equipment does not meet.
  • Cardiff and Vale University Health Board expressed regret about her experience and declined case-specific comment, while she reports a specialist linked a newborn MRSA infection to a gene change, a claim not independently verified in the coverage.