An artificial intelligence chatbot has helped to identify a rare neurological condition in a woman from Wales after she spent four years being incorrectly diagnosed by medical professionals. Phoebe Tesoriere, 23, from Cardiff, was initially told by doctors that she was experiencing anxiety, depression and epilepsy, despite presenting with increasingly severe symptoms including seizures, mobility problems and balance problems. After a major seizure that resulted in a coma for three days in July 2025, Phoebe turned to ChatGPT to investigate her condition. The AI tool identified multiple possible conditions, among them hereditary spastic paraplegia—a rare genetic disorder that impacts the nervous system. After presenting this finding to her GP, genetic analysis verified the finding, finally providing clarity after prolonged periods of frustration and poor management within the NHS.
A 4-Year Passage Across Clinical Ambiguity
Phoebe’s physical difficulties started years before her identification of the condition. Throughout her childhood, she went through a ongoing difficulty walking, which she put down to being born without a hip socket and having surgical correction as an baby. She also contended with balance problems and was tested for dyspraxia, a neurological condition affecting physical motor control, though the findings proved negative. These initial signs would subsequently become noteworthy in establishing her root cause, yet at the time they continued to be unaccounted for and largely dismissed by healthcare practitioners.
The situation worsened significantly when Phoebe was 19 years old. She experienced a seizure whilst at work, a distressing incident that should have prompted comprehensive enquiry. Instead, doctors attributed the episode to anxiety—a diagnosis that was thereafter recorded in her medical records despite Phoebe having never previously suffered from anxiety disorders. She described herself as “a really happy, bubbly person” before this incident, making the diagnosis seem notably inconsistent. This misdiagnosis would set the tone for extended periods of inappropriate treatment and growing exasperation.
- Childhood limp attributed to hip surgery, not underlying neurological condition
- Balance difficulties assessed for dyspraxia but results came back negative
- First seizure at 19 incorrectly identified as anxiety episode
- Anxiety diagnosis added to medical records without proper assessment
The Game-Changing Breakthrough: ChatGPT’s Surprising Finding
After passing 72 hours in a coma following a severe seizure in July 2025, Phoebe found herself at a critical juncture. Upon recovery, a doctor delivered a confusing diagnosis: she did not have epilepsy after all, but rather anxiety. This conflicted with extensive prior treatment and the earlier epilepsy diagnosis she had been given in 2022. Exasperated with the circular nature of her medical journey and feeling unheard by healthcare professionals, Phoebe made the decision to turn to an alternative approach for answers. She entered her complete symptom profile into ChatGPT, the artificial intelligence chatbot that has become increasingly prevalent in healthcare discussions.
The AI tool’s response proved remarkably comprehensive. ChatGPT produced a range of potential conditions that might explain Phoebe’s constellation of symptoms—advancing loss of strength, coordination problems, seizures, and periods of paralysis. Among the suggestions was hereditary spastic paraplegia, a rare genetic neurological disorder that impacts the spinal cord and causes advancing rigidity and weakness in the legs. What set apart this suggestion from earlier clinical assessments was its specificity and the way it comprehensively accounted for multiple symptoms that had previously been fragmented across various diagnoses. Phoebe quickly recognised that this condition might at last offer the single coherent understanding she had been seeking.
From Scepticism to Affirmation
Armed with the recommendation from ChatGPT, Phoebe approached her GP with the information about hereditary spastic paraplegia. Rather than dismissing the AI-generated hypothesis outright, her doctor took the recommendation seriously and arranged genetic testing. This pragmatic approach turned out to be transformative. The genetic tests returned positive results, confirming that Phoebe did indeed have hereditary spastic paraplegia—validating both the AI chatbot’s analysis and, more importantly, finally delivering a definitive diagnosis after four years of misdiagnosis and medical uncertainty.
The confirmation represented a important milestone for Phoebe, though it also underscored the limitations of her previous medical care. Her GP, Dr Rebeccah Tomlinson, has subsequently recognised the role artificial intelligence can have in medical research, whilst emphasising the importance of professional verification. She pointed out that when patients utilise artificial intelligence tools to explore health concerns, these results should always be discussed with trained healthcare experts before drawing conclusions. This measured approach recognises both the possible advantages of AI in healthcare and the essential importance of professional medical expertise.
Comprehending Hereditary Spastic Paraplegia
Hereditary spastic paraplegia (HSP) is a uncommon hereditary neurological disorder characterised by increasing weakness and rigidity in the legs. The condition affects the spinal cord, particularly the nerve fibres responsible for leg movement. HSP exists in multiple forms, with more than 80 genetic variations identified, complicating diagnosis for clinicians. Symptoms generally emerge over time and can encompass problems with walking, coordination issues, reduced muscle strength, and in some cases, seizures. The disease’s rarity means numerous physicians have limited experience recognising it, which partly clarifies why Phoebe’s condition was undiagnosed for so long despite exhibiting characteristic features of the disorder.
| Aspect | Details |
|---|---|
| Primary Affected Area | Spinal cord and nerve fibres controlling leg movement |
| Genetic Variants | Over 80 known genetic forms of the condition |
| Common Symptoms | Progressive leg weakness, stiffness, balance difficulties, and occasionally seizures |
| Inheritance Pattern | Can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns depending on genetic variant |
The complexity of HSP’s hereditary variation presents substantial diagnostic difficulties. With various modes of inheritance and variable symptom presentations across different forms, even experienced neurologists can find it difficult to recognise the condition without genetic testing. Phoebe’s case highlights how rare genetic disorders can be missed when symptoms overlap with frequently occurring disorders like epilepsy or anxiety disorders, emphasising the critical importance of thorough genetic investigation when standard diagnoses fail to fully explain a patient’s clinical presentation.
The Larger Conversation Around AI in Medical Care
Phoebe’s case has reignited debate about the function of AI in medical diagnosis and patient care. Whilst her case demonstrates AI’s potential to uncover overlooked ailments, medical professionals and scientists advise against regarding AI systems as diagnostic instruments. A recent University of Oxford study found that people seeking medical guidance through AI received inconsistent recommendations, spanning from helpful information to potentially dangerous recommendations. This variability presents considerable difficulties for individuals trying to differentiate trustworthy advice from inaccurate suggestions, particularly when dealing with rare or complex ailments that require expert expertise and thorough medical assessment.
The incident also raises key concerns about patient autonomy and the healthcare system’s responsiveness to people who feel their voices aren’t being heard. Many patients rely on AI tools out of frustration when traditional medical pathways fail them, highlighting potential gaps in diagnostic processes. Phoebe’s decision to turn to ChatGPT arose from feeling “really lonely” during her medical journey and the toll of struggling to be believed. This reflects a broader concern that patients increasingly seek other options when traditional medical systems fail to deliver solutions, indicating that improvements in diagnostic protocols and patient communication may be equally important as establishing clear guidelines for AI tool usage in medical contexts.
Expert Perspectives on AI-Powered Medical Devices
Dr Rebeccah Tomlinson, a general practitioner, recognises that patients may legitimately use AI chatbots to investigate health concerns but emphasises the vital significance of reviewing results with qualified medical professionals. This balanced perspective acknowledges people’s right to seek information whilst maintaining professional oversight. The British Medical Association and other healthcare bodies have likewise recommended for AI integration within structured medical frameworks rather than as a substitute for professional diagnosis. Experts stress that AI tools should complement rather than circumvent medical knowledge, especially considering the intricacy of uncommon hereditary disorders requiring expert understanding and DNA analysis verification.
Cardiff and Vale University Health Board’s response to Phoebe’s case recognised her difficult experience whilst tacitly supporting the challenges doctors face when diagnosing rare conditions affecting a small number of patients. Medical professionals contend that hereditary spastic paraplegia’s scarcity and multiple genetic variants make it fundamentally challenging to identify without targeted genetic analysis. However, the case has prompted reflection within the healthcare community about improving diagnostic pathways for patients with unusual clinical features. Healthcare leaders are increasingly acknowledging that developing improved communication frameworks and lower thresholds for genetic testing referrals could prevent similar diagnostic delays whilst maintaining rigorous clinical standards.
- AI should support clinical decision-making, not undermine clinical expertise and diagnosis
- Patients employing AI-based tools must share findings with registered healthcare providers before acting
- Healthcare systems must strengthen diagnostic frameworks for rare diseases and non-standard presentations
Progressing Forward: Life Following Diagnosis
Since receiving her verified diagnosis of hereditary spastic paraplegia in 2025, Phoebe Tesoriere has started adjusting to living with a clear understanding of her condition. The genetic testing results has provided her with answers after prolonged periods of uncertainty and misdiagnosis, allowing her healthcare team to develop a more targeted treatment approach. Phoebe has become an advocate for improved diagnostic pathways, publicly sharing her experience to raise awareness of hereditary spastic paraplegia amongst patients and medical professionals alike. Her experience has highlighted the importance of listening to patients who persistently report symptoms that don’t match conventional diagnoses, and she remains engaged with healthcare providers to handle her condition effectively.
Phoebe’s experience has also generated broader conversations within the NHS about diagnostic protocols for uncommon neurological disorders. Whilst she recognises the real difficulties doctors encounter when identifying rare genetic conditions, she stays dedicated to helping others avoid the four-year diagnostic journey she experienced. Her case has sparked consideration amongst medical professionals about implementing lower thresholds for genetic testing referrals and enhancing dialogue with patients experiencing atypical symptom presentations. Going forward, Phoebe wishes her account will inspire both patients and clinicians to keep searching for answers, illustrating that uncommon conditions, though challenging to identify, should never be written off as psychological in nature.