Young Teacher Turns to AI for Answers After Years of Medical Frustration
A 23-year-old teacher from Cardiff has revealed how she used the artificial intelligence tool ChatGPT to help diagnose her rare genetic condition, following four years of frustrating misdiagnoses. Phoebe Tesoriere, a former SEN teacher, input her troubling symptoms into the AI platform, which suggested she might be suffering from Hereditary Spastic Paraplegia.
From Anxiety to a Life-Altering Diagnosis
Phoebe's medical journey began with unexplained symptoms including stiff legs and significant hair loss. Over several years, doctors repeatedly told her she was experiencing anxiety and even Todd's Paralysis, a temporary condition following seizures. The situation reached a critical point in February 2022 when she collapsed and was hospitalized, only to be told she "probably just got anxiety."
"It was such a bittersweet moment to be diagnosed after being told it was anxiety," Phoebe explained. "To go from that to matter of weeks later being told actually you've got this condition which will change your whole life. It's one of those things where I'm happy to have my diagnosis because it made sense but I'd rather it be anything else but this."
The AI Intervention That Changed Everything
Frustrated by the lack of answers, Phoebe turned to ChatGPT, describing her persistent symptoms to the AI assistant. The tool pointed toward Hereditary Spastic Paraplegia, a group of rare inherited disorders that cause progressive weakness and stiffness in leg muscles, eventually affecting all four limbs in severe cases.
Armed with this information, Phoebe approached her GP who arranged genetic testing. The results confirmed she had the complex quadriplegic type of Hereditary Spastic Paraplegia, a progressive condition with no current cure that has forced her to leave her teaching career.
A Progressive Condition With Devastating Impact
The diagnosis explained years of unexplained health struggles, including an abnormal walking pattern that doctors had previously attributed to the absence of her left hip socket. In 2025, a seizure landed Phoebe in a 48-hour coma, yet she was discharged with instructions to be treated as a mental health patient if she returned to hospital.
"People think 'oh she just can't walk'. Or 'it's a massive thing she's had but at least it's not a spinal cord injury'," Phoebe said. "It is, and it's progressive. At night I have to wear splints on my arms to keep them functioning as long as possible. There is no treatment but my doctors hope they can slow the progression, but there's nothing they can do to stop it."
Medical History Provides Clues in Hindsight
Looking back, medical evidence suggests signs of the condition were present much earlier. Phoebe revealed that an MRI scan when she was 15 showed signs of nerve deterioration in her hip, though doctors at the time wouldn't have known to connect it to Hereditary Spastic Paraplegia.
"There are loads of side effects like speech issues and early dementia," she noted. "It's such a rare disease nobody knows about it and mine is one of the rarest you can have."
Family Support and Fundraising Efforts
Phoebe's sister Yasmin, 32, has established a fundraiser to purchase a specialized wheelchair that can properly support Phoebe's spine and help slow its deterioration. The standard NHS-provided wheelchair doesn't meet her specific needs for maintaining independence.
Cardiff and Vale University Health Board has acknowledged Phoebe's difficult diagnostic journey, stating: "We are sorry to hear about Phoebe's experience while in our care and recognise how difficult the process of obtaining a diagnosis has been for her and her family."
The case highlights both the potential of AI tools in healthcare and the challenges patients face with rare diseases that often go undiagnosed for years despite clear symptoms and medical evidence.
