ChatGPT Uncovers Rare Condition After Years of Misdiagnosis
ChatGPT has assisted in identifying a rare medical condition in a woman who endured years of misdiagnoses by healthcare professionals.
Phoebe Tesoriere, 23, from Cardiff, reported being told by doctors that she suffered from anxiety, depression, and epilepsy. She was also warned that if she continued to visit Accident & Emergency (A&E), she would be treated as a mental health patient.
After experiencing a seizure that left her in a coma for three days, Phoebe input her symptoms into the AI chatbot ChatGPT. The tool suggested several possible conditions, including hereditary spastic paraplegia. Phoebe then presented this information to her general practitioner (GP), and subsequent genetic testing confirmed the diagnosis.
The Cardiff and Vale University Health Board issued a statement saying,
"We are sorry to hear about Phoebe's experience while in our care."
GP Dr Rebeccah Tomlinson advised that when individuals use AI chatbots to research health concerns, they should discuss the findings with a medical professional.
Phoebe acknowledged the difficulties hospitals face in diagnosing complex conditions but turned to AI after feeling isolated during her medical journey.
"I had to fight to be listened to," she said.
She described her childhood struggles, stating,
"All my childhood I had a limp. I was born without a hip socket and had operations as a baby, so thought it was to do with that."
She also experienced balance difficulties and was tested for dyspraxia, a condition affecting physical coordination.
At 19, Phoebe collapsed and had a seizure at work. However, doctors attributed this to anxiety, which was then recorded in her medical history.
"I had no history of anxiety, I was a really happy, bubbly person," she said.
In 2022, Phoebe was diagnosed with epilepsy and prescribed medication, though she later found this diagnosis to be incorrect.
In December 2024, she began feeling unwell again and was unable to retain her epilepsy medication, leading to additional seizures. She experienced difficulty walking and was misdiagnosed with Todd's Paralysis, a temporary paralysis following seizures in epilepsy patients.
In January 2025, Phoebe fell down the stairs, resulting in a three-month hospital stay during which tests were inconclusive.
Then, in July 2025, she suffered a significant seizure that left her in a coma for three days.
Upon regaining consciousness, Phoebe said a doctor told her she did not have epilepsy but anxiety instead.
Following this, she entered her symptoms into ChatGPT, which suggested several possible diagnoses, including hereditary spastic paraplegia.
"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'," Phoebe recalled.
Fortunately, her GP considered the AI's suggestion plausible, and genetic testing confirmed the diagnosis.
The NHS notes that the prevalence of hereditary spastic paraplegia is unknown due to frequent misdiagnosis. Symptoms can be managed through physiotherapy.
Due to her symptoms, Phoebe can no longer work as a special educational needs teacher and now uses a wheelchair.
She is pursuing a new career path by studying for a master's degree in psychology, motivated by a desire to continue helping others.
Challenges in Diagnosis and GP Perspectives
A spokesperson for Cardiff and Vale University Health Board stated,
"As it would be inappropriate to comment on an individual patient case, we are unable to comment further. 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."
Dr Rebeccah Tomlinson, a GP serving Cardiff and Vale of Glamorgan, commented on the challenges faced by general practitioners,
"It's difficult for GPs to know everything. With the pressure on the NHS, we have to know even more. Patients coming with information helps me understand what they are thinking and guide the discussion more clearly. It's good as a starting talking point [AI tools] which should be followed by going to a medical professional to discuss concerns further. It's helpful for patients to come armed with information but the GP has to be open and receptive to the patient. General practice has to be a two-way conversation."
Use of ChatGPT in Healthcare
Artificial intelligence is increasingly integrated into daily life, but its use in healthcare remains controversial.
Earlier this year, OpenAI launched a ChatGPT feature in the United States designed to analyze medical records to provide improved responses. The company emphasized that the tool is not intended for diagnosis or treatment, though approximately 230 million people ask the chatbot health and wellbeing questions weekly.
Concerns were raised by campaigners regarding ChatGPT Health's access to sensitive health data. OpenAI stated the feature is designed to support, not replace, medical care.
It is currently unclear if or when this feature will be introduced in the United Kingdom.
Despite ongoing debate, millions of people, including Phoebe, use AI tools for various purposes such as personalizing social media, identifying people in photos, and seeking advice on everyday matters.
