Woman, 23, Self-Diagnosed Her Rare Genetic Disorder Using ChatGPT After Years of Being Misdiagnosed by Doctors

**Young Woman’s Journey to Diagnosis Highlights Challenges Faced in Healthcare**

A 23-year-old from Cardiff has shared her distressing account of how she endured years of misdiagnoses before finally discovering the underlying cause of her severe health issues. Phoebe Tesoriere’s experience sheds light on the difficulties some patients face within the healthcare system, emphasising the importance of advocacy in seeking appropriate medical care.

Tesoriere, who has struggled with increasing mobility and seizure issues since childhood, originally exhibited balance problems that led to testing for dyspraxia, a condition affecting coordination. However, she was ultimately cleared of this diagnosis, setting the stage for a convoluted medical journey.

At the age of 19, she collapsed at work due to a seizure. Alarmingly, doctors attributed this incident to anxiety, a diagnosis that soon became part of her medical history despite lacking any prior indications of anxiety in her life. “I had no history of anxiety; I was a really happy, bubbly person,” she recounted.

In 2022, Tesoriere was diagnosed with epilepsy, leading to a prescription for medication. Unfortunately, her symptoms continued to deteriorate over the following year. By early 2024, she was experiencing more frequent seizures and had begun to struggle with walking. At this point, she was misdiagnosed again, this time with Todd’s paralysis—an affliction typically related to epilepsy that causes temporary weakness.

Tragedy struck in early 2025, when a fall down a flight of stairs necessitated a three-month hospital stay, during which numerous tests produced inconclusive results. Following this, Tesoriere experienced a severe seizure in July that left her in a coma for three days. Despite this harrowing episode, her healthcare providers once again linked her health struggles to anxiety.

In a bid for a clearer understanding of her symptoms, Tesoriere turned to ChatGPT, an AI platform, seeking insights that she felt her doctors had overlooked. The AI suggested the possibility of hereditary spastic paraplegia, a rare genetic disorder characterised by gradual muscle stiffness and weakness in the legs. Initially uncertain, Tesoriere grappled with the idea of presenting this information to her medical team. “I went back and forth with my partner, questioning, ‘Do I go to the doctors? Do I not?'” she recalled.

Ultimately, she chose to share the AI’s suggestion with her doctor, who acknowledged it as a “plausible” diagnosis. This led to genetic testing, which ultimately confirmed that Tesoriere had hereditary spastic paraplegia alongside epilepsy—the first definitive answers she had received after years of searching.

While Tesoriere expressed empathy towards healthcare professionals facing diagnostic challenges, she candidly described her experience as “really lonely.” “I had to fight to be listened to,” she stated, highlighting a struggle many patients face when advocating for their own health.

In response to her experience, a spokesperson for the Cardiff and Vale Health Board extended apologies, acknowledging the unfortunate circumstances surrounding Tesoriere’s care. They noted, however, that they could not comment on individual patient cases, but welcomed her to reach out with any concerns regarding her treatment.

As a result of her medical challenges, Tesoriere now relies on a wheelchair, which has forced her to step away from her former role as a special education teacher. Despite these setbacks, she remains determined to contribute positively to society; she is currently pursuing a master’s degree in psychology, motivated by a desire to help others facing similar struggles.

Tesoriere’s journey underscores a vital message about patient advocacy and the importance of listening to and validating patients’ concerns. As her story resonates within the community, it serves as a reminder for healthcare professionals to maintain open lines of communication with patients to facilitate better outcomes in the future.