{
  "id": "AIBD-0305",
  "title": "ChatGPT lists hereditary spastic paraplegia for Phoebe Tesoriere, 23, after four years of misdiagnosis; her GP agrees and genetic testing confirms it",
  "summary": "A Cardiff teacher put her symptoms into ChatGPT after a coma; it listed hereditary spastic paraplegia, her GP called it plausible and genetic testing confirmed it in August 2025 (BBC, WalesOnline).",
  "date_observed": "2025-08-01",
  "date_basis": "unassessed",
  "date_precision": "unassessed",
  "benefit_status": null,
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  "account": "Phoebe Tesoriere, 23, from Cardiff, Wales, is a former special educational needs teacher. She had a limp since childhood. From 2022 she was diagnosed with epilepsy, then Todd's paralysis, and repeatedly told her symptoms were anxiety. In January 2025 she fell down stairs and spent months in hospital. In July 2025 a seizure left her in a coma (three days per BBC Wales, 48 hours per the SWNS report in WalesOnline). After discharge she entered her symptoms into ChatGPT. It returned a list of possible conditions including hereditary spastic paraplegia (HSP). She took the suggestion to her GP, who agreed it was a “plausible reason”. Genetic testing confirmed HSP, in August 2025 according to WalesOnline, which also reports the complex quadriplegic type. The first day of August is used because no day is given. There is no treatment. She uses a wheelchair, attends physiotherapy and is fundraising for a specialist chair. Cardiff and Vale University Health Board said it was “sorry to hear about Phoebe's experience while in our care”. It would not comment on an individual case. The account rests on her own statements to BBC Wales (10 April 2026) and SWNS (6 April 2026). No clinical document is among the sources.",
  "category": "benefit created",
  "unexpected": true,
  "purpose": "ChatGPT is a general-purpose chatbot not built or cleared for diagnosis. The patient used it to generate candidate conditions from her symptom list.",
  "system": "ChatGPT",
  "model_version": null,
  "developer": "OpenAI",
  "deployer": null,
  "location": "Cardiff, United Kingdom",
  "domain": "Healthcare (rare-disease diagnosis)",
  "segment": "Patient-initiated use of a consumer LLM",
  "benefit_type": "Improved Physical Health",
  "taxonomy_note": null,
  "registry_ids": {},
  "ratings": [
    {
      "group": "personal",
      "depth": 2,
      "reason": "A confirmed diagnosis replaced “anxiety” on her records and lets her plan care and equipment. The condition is progressive with no treatment. So the gain is certainty and appropriate management rather than a changed prognosis."
    }
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  "ai_role": {
    "status": "assessed",
    "statement": "By her account the chatbot produced a list of candidates that included HSP. She decided to take it to her GP. The GP ordered genetic testing, and the test made the diagnosis. The prompt, the model version and the full candidate list are not reported. Only news reports quoting the patient are among the sources. The health board declined to comment on the case."
  },
  "evidence": [
    {
      "kind": "news report",
      "citation": "Herbert D (2026). ChatGPT 'uncovered woman's rare condition' after years of misdiagnosis. BBC Wales, 10 April 2026.",
      "title": "ChatGPT 'uncovered woman's rare condition' after years of misdiagnosis",
      "url": "https://www.bbc.com/news/articles/cx24njzzkgjo",
      "date": "2026-04-10",
      "written_by": "independent",
      "quote": "The chatbot came back with a list of possible conditions, including hereditary spastic paraplegia."
    },
    {
      "kind": "news report",
      "citation": "Phillips E / SWNS (2026). Cardiff woman uses Chat GPT to uncover rare condition doctor thought was anxiety. WalesOnline, 6 April 2026.",
      "title": "Cardiff woman uses Chat GPT to uncover rare condition doctor thought was anxiety",
      "url": "https://www.walesonline.co.uk/news/wales-news/cardiff-woman-uses-chat-gpt-33722339",
      "date": "2026-04-06",
      "written_by": "independent",
      "quote": "Phoebe underwent genetic testing which confirmed in August 2025 that she had the complex quadriplegic type of the condition"
    },
    {
      "kind": "news report",
      "citation": "Herbert D (2026). BBC Wales, 10 April 2026 (health board statement).",
      "title": "ChatGPT 'uncovered woman's rare condition' after years of misdiagnosis",
      "url": "https://www.bbc.com/news/articles/cx24njzzkgjo",
      "date": "2026-04-10",
      "written_by": "independent",
      "quote": "Cardiff and Vale University Health Board said: \"We are sorry to hear about Phoebe's experience while in our care.\""
    }
  ],
  "replication": {
    "produced_by": [
      "A patient with a long list of concrete symptoms (gait, incontinence, sensory loss, reflex changes, seizures) and no settled diagnosis",
      "Entry of the symptom list into a general large language model (LLM)",
      "A GP willing to test a patient-sourced hypothesis and access to genetic testing"
    ],
    "must_hold": [
      "The true condition is among the candidates the model lists and the patient pursues it",
      "Clinicians confirm by genetic testing rather than accepting the suggestion"
    ],
    "echoes": []
  },
  "paired_incident": null,
  "headline": "ChatGPT lists HSP for Phoebe Tesoriere; genetic testing confirms",
  "metric": null,
  "comparator": {
    "against": "four years of diagnoses by doctors (anxiety, depression, epilepsy)",
    "before": "she was told she was anxious, depressed, had epilepsy",
    "after": "Genetic testing then confirmed the AI suggestion.",
    "basis": "assumed",
    "quote": "ChatGPT has helped to uncover a woman's rare condition after years of being misdiagnosed by doctors. Phoebe Tesoriere, 23, claims she was told she was anxious, depressed, had epilepsy and warned she'd be treated as a mental health patient if she kept returning to A&E.",
    "url": "https://www.bbc.com/news/articles/cx24njzzkgjo"
  },
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    "status": "unknown",
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    "note": "Nothing dated after the April 2026 reports was found; WalesOnline says she is fundraising for a specialist wheelchair and there is no treatment.",
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      "source": "https://en.wikipedia.org/wiki/OpenAI",
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          }
        },
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          "kind": "legacy_record",
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          "kind": "record_fields",
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          }
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        "value": {
          "kind": "record_fields",
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              },
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                "date": "2026-10-21",
                "change": "Benefit type set to Improved Physical Health under Trustible's full taxonomy of 23 types; it was Improved Knowledge Discovery among the six first used.",
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                "date": "2026-10-21",
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                "source": "https://www.bbc.com/news/articles/cx24njzzkgjo",
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                "source": "https://en.wikipedia.org/wiki/OpenAI",
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              },
              {
                "date": "2026-10-21",
                "change": "Prose pass: a rating reason, account, purpose, the replication conditions, the system's part rewritten in shorter sentences with abbreviations expanded; facts, figures and quotations unchanged.",
                "editor": "AIBD"
              },
              {
                "date": "2026-10-21",
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        "review_state": "record_mapped",
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          "kind": "record_fields",
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              "produced_by": [
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                "Entry of the symptom list into a general large language model (LLM)",
                "A GP willing to test a patient-sourced hypothesis and access to genetic testing"
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              },
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                "date": "2026-10-21",
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                "date": "2026-10-21",
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                "date": "2026-10-21",
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              {
                "date": "2026-10-21",
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                "editor": "AIBD"
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          "source_refs": []
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          "record_fields": [
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        },
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          "fields": {
            "title": "ChatGPT lists hereditary spastic paraplegia for Phoebe Tesoriere, 23, after four years of misdiagnosis; her GP agrees and genetic testing confirms it",
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          }
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        "coverage": "complete"
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      "workflow": {
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          "kind": "record_fields",
          "fields": {
            "account": "Phoebe Tesoriere, 23, from Cardiff, Wales, is a former special educational needs teacher. She had a limp since childhood. From 2022 she was diagnosed with epilepsy, then Todd's paralysis, and repeatedly told her symptoms were anxiety. In January 2025 she fell down stairs and spent months in hospital. In July 2025 a seizure left her in a coma (three days per BBC Wales, 48 hours per the SWNS report in WalesOnline). After discharge she entered her symptoms into ChatGPT. It returned a list of possible conditions including hereditary spastic paraplegia (HSP). She took the suggestion to her GP, who agreed it was a “plausible reason”. Genetic testing confirmed HSP, in August 2025 according to WalesOnline, which also reports the complex quadriplegic type. The first day of August is used because no day is given. There is no treatment. She uses a wheelchair, attends physiotherapy and is fundraising for a specialist chair. Cardiff and Vale University Health Board said it was “sorry to hear about Phoebe's experience while in our care”. It would not comment on an individual case. The account rests on her own statements to BBC Wales (10 April 2026) and SWNS (6 April 2026). No clinical document is among the sources.",
            "replication": {
              "produced_by": [
                "A patient with a long list of concrete symptoms (gait, incontinence, sensory loss, reflex changes, seizures) and no settled diagnosis",
                "Entry of the symptom list into a general large language model (LLM)",
                "A GP willing to test a patient-sourced hypothesis and access to genetic testing"
              ],
              "must_hold": [
                "The true condition is among the candidates the model lists and the patient pursues it",
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              ],
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        },
        "provenance": {
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          "basis": "Preserved from the existing AIBD record; external sources were not rechecked.",
          "record_fields": [
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        },
        "review_state": "record_mapped",
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      }
    },
    "summary": {
      "total": 91,
      "addressed": 91,
      "known": 28,
      "reviewed": 0,
      "record_mapped": 28,
      "not_assessed": 63,
      "complete": false,
      "by_state": {
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        "not_reported": 0,
        "unresolved": 0,
        "not_assessed": 63,
        "not_applicable": 0,
        "withheld": 0,
        "source_unavailable": 0
      }
    }
  }
}
