Genetic testing later confirmed hereditary spastic paraplegia after years of conflicting diagnoses.
CARDIFF, Wales — A 23-year-old Cardiff woman says genetic testing confirmed a rare neurological disorder after ChatGPT suggested the condition, ending years of conflicting diagnoses that followed childhood balance problems, seizures, falls and a three-day coma in 2025.
The case has drawn notice because it sits at the crossing of two issues already under strain in Britain, long delays in diagnosing rare neurological diseases and fast-growing public use of AI chatbots for health questions. Phoebe Tesoriere said doctors at different stages recorded anxiety, epilepsy and Todd’s paralysis before a doctor agreed that hereditary spastic paraplegia sounded plausible and ordered genetic testing. Cardiff and Vale University Health Board said it was sorry to hear about her experience but would not discuss an individual patient case in public.
Tesoriere said her problems began long before the final diagnosis. In interviews with the BBC, she said she had a limp through childhood and was once tested for dyspraxia, a coordination disorder, but did not receive that diagnosis. When she was 19, she said, she collapsed at work after a seizure and doctors told her the episode was anxiety, a label she said later appeared in her permanent records. In 2022, she was diagnosed with epilepsy and started medication. By 2024, she said, the seizures were becoming more frequent and walking was getting harder. Early in 2025, she fell down a flight of stairs and spent three months in the hospital while doctors ran tests that did not settle on an answer. In July 2025, she said, another seizure left her in a coma for three days. After that, she and her partner entered her symptoms into ChatGPT. She said the chatbot suggested hereditary spastic paraplegia.
Tesoriere said she hesitated before taking the idea back to her doctor because the suggestion seemed too simple after years of uncertainty. She told the BBC that she and her partner went back and forth over whether to raise it at all. When she finally did, she said, her doctor called it a plausible explanation and ordered genetic testing. Tesoriere said the test confirmed hereditary spastic paraplegia in addition to epilepsy. The exact genetic subtype has not been made public, and the reports reviewed for this story did not describe which earlier tests she had already undergone before genetics was added. Cardiff and Vale University Health Board, which oversees local NHS services in the area, said in a statement carried by the BBC that it was sorry to hear about her experience while in its care. The board said it could not comment further because it would be inappropriate to discuss an individual patient case, but invited Tesoriere to contact its concerns team if she wanted to discuss any aspect of the care she received.
Hereditary spastic paraplegia is not a single illness but a group of inherited neurological disorders that mainly affect the legs. Health authorities describe it as progressive, meaning symptoms usually worsen over time, often with increasing stiffness, weakness and trouble walking. That broad pattern helps explain why the condition can be hard to spot early, especially when symptoms overlap with better-known problems such as epilepsy, anxiety or temporary weakness after a seizure. In Tesoriere’s case, the reported signs included balance problems in childhood, recurrent seizures, falls and worsening mobility. Her story also lands in a wider debate about AI in health care. A February study from Oxford researchers found that members of the public using large language models for medical decisions often received mixed or unreliable help. Reuters reported that participants using AI identified relevant conditions in fewer than 34.5% of test scenarios and chose the correct action in fewer than 44.2%, results that were little better than conventional methods.
That broader context makes Tesoriere’s case striking but not simple. The chatbot did not issue a formal diagnosis, order a test or start treatment. The key medical step was the genetic test that followed, and that result appears to have changed the course of her care. Hereditary spastic paraplegia is usually managed rather than cured, with treatment focused on easing symptoms and preserving mobility. Tesoriere said she now uses a wheelchair and is undergoing physical therapy. She also said she can no longer continue her former work as a special education teacher. Instead, she told the BBC, she has started a master’s degree in psychology because she still wants to do work that helps people. On the administrative side, the health board’s public position remains narrow. It has offered its concerns process and an expression of regret, but it has not announced any public review, disciplinary action or wider service inquiry tied to her case.
Tesoriere described the years before the diagnosis as isolating and exhausting. “I had to fight to be listened to,” she told the BBC, a line that has become the emotional center of the story as it spread beyond Wales. Another voice in the discussion came from Dr. Rebeccah Tomlinson, a GP serving Cardiff and the Vale of Glamorgan, who told the BBC that front-line doctors face pressure to know more and more while dealing with limited time and crowded systems. AI tools, she said, can help start a conversation, but only if both patient and doctor stay open to that discussion. “General practice has to be a two-way conversation,” Tomlinson said. For Tesoriere, the answer arrived not as a dramatic cure but as a name for the problem that had shaped her childhood, work and independence. That name, once confirmed in a lab, gave structure to years that had felt to her like scattered and competing explanations.
For now, Tesoriere says the diagnosis has given her an answer she had sought for years. The next public step appears limited to any follow-up with the health board’s concerns team, while she continues physical therapy and graduate study in Cardiff.
Author note: Last updated April 19, 2026.