Woman Discovers Rare Genetic Disorder with ChatGPT After Years of Misdiagnosis…

A 23-year-old woman says she finally identified a rare genetic condition after years of incorrect diagnoses — by turning to ChatGPT for answers.

Phoebe Tesoriere, from Cardiff, Wales, explained that her health issues began in childhood with balance difficulties. At the time, she was evaluated for dyspraxia, a coordination disorder, but doctors ruled it out.

At 19, she experienced a seizure at work and collapsed. Despite having no prior history of anxiety, doctors attributed the episode to anxiety and recorded it as such in her medical file. She later said this diagnosis didn’t reflect her personality or experiences.

In 2022, she was diagnosed with epilepsy and started treatment, but her condition continued to worsen. By 2024, her seizures became more frequent, and she began struggling to walk. Doctors then suggested she might have Todd’s paralysis, a condition sometimes linked to epilepsy.

Her health declined further in early 2025 after she fell down stairs, leading to a three-month hospital stay filled with inconclusive tests. Later that year, a severe seizure left her in a coma for three days. Even after this, doctors again pointed to anxiety as the cause of her symptoms.

Frustrated, she decided to input her symptoms into ChatGPT. The AI suggested she might have hereditary spastic paraplegia, a rare genetic disorder that causes progressive stiffness and weakness in the legs.

Initially unsure whether to trust the suggestion, she discussed it with her partner before deciding to bring it up with her doctor. Her doctor agreed it was a plausible possibility, and genetic testing ultimately confirmed the diagnosis — alongside her existing epilepsy.

Now using a wheelchair, Tesoriere can no longer work as a special education teacher. However, she is pursuing a master’s degree in psychology, motivated by her desire to continue helping others.

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