Woman, 23, Self-Diagnosed Her Rare Genetic Disorder Using ChatGPT After Years of Being Misdiagnosed by Doctors
“I had to fight to be listened to,” the woman said
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NEED TO KNOW
- A woman experienced worsening seizures and mobility issues for years, but she said doctors repeatedly misdiagnosed her
- After a severe decline, she turned to ChatGPT, which suggested hereditary spastic paraplegia, a diagnosis later confirmed by genetic testing
- The woman described her health journey as “really lonely,” adding, “I had to fight to be listened to”
A woman says her serious medical condition was misdiagnosed for years — so she took matters into her own hands by using ChatGPT.
Phoebe Tesoriere, 23, of Cardiff, Wales, said she had balance problems as a child and was tested for a condition called dyspraxia at the time, which affects coordination, but she ultimately did not have the disorder, according to the BBC.
When she was 19, Tesoriere said she collapsed from a seizure while at work, but doctors told her it was merely anxiety, putting the diagnosis in her permanent medical records.
“I had no history of anxiety, I was a really happy, bubbly person,” she told the outlet.
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In 2022, Tesoriere said doctors diagnosed her with epilepsy and put her on medication for the condition. But by 2024, her symptoms only got worse.
She began having more seizures and was struggling to walk — at which point she said she was misdiagnosed with a neurological condition called Todd’s paralysis, which can affect individuals with epilepsy.
Tesoriere fell down a flight of stairs in early 2025, which resulted in a three-month hospital stay and a slew of inconclusive tests.
She said she then suffered a severe seizure in July of that same year that left her in a coma for three full days.
Despite the incident, Tesoriere said that doctors again told her that her recent health struggles were due to anxiety — and it was at this point that she decided to run her symptoms by ChatGPT.
She said that the AI platform suggested she might have something called hereditary spastic paraplegia, which is a genetic condition characterized by progressive muscle stiffness and weakness in the legs.
Tesoriere said she was initially unsure whether she should bring the suggestion to her doctors.
“I went back and forth with my partner, questioning, ‘Do I go to the doctors? Do I not? What should I do? Surely it can’t be that,’ ” she recalled.
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Tesoriere ultimately decided to share the suggestion with her doctor, who said it was a “plausible” diagnosis.
Genetic testing then confirmed that she did, in fact, have the rare and commonly under-diagnosed condition in addition to epilepsy.
While Tesoriere said that she understands the challenges that healthcare providers face when diagnosing certain conditions, she found her struggle to find answers “really lonely.”
“I had to fight to be listened to,” she added.
In a statement to the BBC, a spokesperson for Cardiff and Vale Health Board, a regional healthcare authority in Wales that is part of the National Health Service, said, “We are sorry to hear about Phoebe’s experience while in our care,” adding that they could not provide further comment as “it would be inappropriate to comment on an individual patient case.”
“Phoebe is welcome to contact our concerns team should she wish to discuss any aspect of the care she received at Cardiff and Vale University Health Board,” the spokesperson continued.
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Tesoriere, who now uses a wheelchair, is no longer able to continue her work as a special education teacher.
She told the BBC that she is currently pursuing a master’s in psychology because she continues to have a desire to “do something that helps people.”