An AI chatbot has helped to identify a rare neurological condition in a Welsh woman after she had spent four years being incorrectly diagnosed by healthcare practitioners. Phoebe Tesoriere, 23, from Cardiff, was initially told by doctors that she was suffering from anxiety, depression and epilepsy, while presenting with progressively worsening symptoms such as seizures, movement difficulties and loss of balance. Following 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 suggested multiple possible conditions, among them hereditary spastic paraplegia—a uncommon inherited condition affecting the nervous system. After bringing these results to her GP, genetic analysis verified the finding, at last offering answers after prolonged periods of frustration and mismanagement within the NHS.
A 4-Year Passage Across Clinical Ambiguity
Phoebe’s physical difficulties commenced well before her diagnosis. Throughout her early years, she went through a persistent limp, which she attributed to being born without a proper hip joint and undergoing surgical correction as an baby. She also had difficulty with balance problems and was tested for dyspraxia, a neurological condition affecting physical coordination, though the results proved negative. These preliminary indicators would subsequently become important in understanding her root cause, yet at the point in time they stayed unexplained and often overlooked by medical professionals.
The situation declined considerably when Phoebe was 19 years old. She experienced a seizure whilst at work, a frightening experience that should have prompted comprehensive enquiry. Instead, doctors ascribed the incident to anxiety—a diagnosis that was subsequently added to her medical records despite Phoebe having no previous experience with anxiety disorders. She characterised herself as “a really happy, bubbly person” before this incident, making the diagnosis seem especially misaligned. This misdiagnosis would set the tone for prolonged stretches of unsuitable care and growing exasperation.
- Childhood gait abnormality attributed to hip surgery, not primary neurological condition
- Balance difficulties tested for dyspraxia but results proved negative
- First seizure at 19 incorrectly identified as anxiety-related episode
- Anxiety diagnosis recorded in medical records lacking proper investigation
The Game-Changing Breakthrough: ChatGPT’s Remarkable Breakthrough
After passing 72 hours in a coma following a severe seizure in July 2025, Phoebe found herself at a crossroads. Upon regaining consciousness, a doctor provided a bewildering statement: she did not have epilepsy after all, but rather an anxiety disorder. This conflicted with years of treatment and the previous epilepsy diagnosis she had been given in 2022. Frustrated by the circular nature of her medical journey and feeling unheard by healthcare professionals, Phoebe made the decision to turn to an unconventional source for answers. She inputted her complete symptom profile into ChatGPT, the artificial intelligence chatbot that has become increasingly prevalent in healthcare discussions.
The AI tool’s response proved notably thorough. ChatGPT produced a range of potential conditions that might explain Phoebe’s constellation of symptoms—progressive weakness, balance difficulties, seizures, and periods of paralysis. Among the suggestions was a rare genetic neurological disorder affecting the spinal cord, a rare genetic neurological disorder that impacts the spinal cord and causes progressive stiffness and weakness in the legs. What distinguished this suggestion from earlier clinical assessments was its precision and the way it comprehensively accounted for multiple symptoms that had previously been fragmented across different diagnostic categories. Phoebe quickly recognised that this condition might at last offer the unified explanation she had been seeking.
From Doubt to Verification
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 came back positive, confirming that Phoebe genuinely had hereditary spastic paraplegia—validating both the analysis provided by the AI chatbot and, more importantly, finally delivering a definitive diagnosis after four years spent dealing with misdiagnosis and medical uncertainty.
The confirmation marked a important milestone for Phoebe, though it also underscored the constraints of her earlier healthcare. Her GP, Dr Rebeccah Tomlinson, has since recognised the role AI tools can have in healthcare research, whilst stressing the significance of expert validation. She noted that when patients utilise artificial intelligence tools to investigate medical issues, these results should be discussed with qualified medical professionals before drawing conclusions. This balanced perspective recognises both the potential benefits of AI in healthcare and the essential importance of expert clinical judgment.
Learning about Hereditary Spastic Paraplegia
Hereditary spastic paraplegia (HSP) is a uncommon hereditary neurological condition defined by progressive weakness and stiffness in the legs. The condition impacts the spinal cord, particularly the neural fibres controlling leg movement. HSP exists in various types, with over 80 genetic variants identified, presenting diagnostic challenges for healthcare practitioners. Symptoms usually appear progressively and can encompass problems with walking, balance problems, muscular weakness, and in some cases, seizures. The disease’s uncommon nature means many doctors have minimal familiarity identifying it, which partly accounts for why Phoebe’s condition went undiagnosed for so long despite presenting classic indicators 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 intricacy of HSP’s hereditary variation presents substantial diagnostic difficulties. With various modes of inheritance and inconsistent symptom manifestations across different forms, even experienced neurologists can struggle to identify the condition without genetic testing. Phoebe’s case highlights how rare genetic disorders can be overlooked when symptoms overlap with more common conditions like epilepsy or anxiety disorders, underscoring the critical importance of thorough genetic investigation when standard diagnoses fail to fully explain a patient’s presenting symptoms.
The Wider Discussion Concerning AI in Medical Care
Phoebe’s case has revived conversations about the place of artificial intelligence in diagnostic processes and healthcare delivery. Whilst her example illustrates AI’s capability to detect missed ailments, healthcare practitioners and researchers advise against treating AI systems as diagnostic instruments. A latest University of Oxford study found that people seeking medical guidance through AI received unreliable advice, spanning from useful guidance to potentially dangerous suggestions. This variation creates significant challenges for individuals trying to distinguish reliable guidance from incorrect suggestions, particularly when managing rare or complex disorders that demand 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 resort to AI tools out of frustration when traditional medical pathways fail them, highlighting potential gaps in diagnostic processes. Phoebe’s willingness to use ChatGPT came from feeling “really lonely” during her medical journey and the toll of struggling to be believed. This reflects a broader concern that patients more often turn to alternative resources when traditional medical systems cannot provide answers, indicating that improvements in diagnostic protocols and patient communication may be equally important as establishing clear guidelines for the use of AI tools in healthcare settings.
Professional Insights on Artificial Intelligence Healthcare Solutions
Dr Rebeccah Tomlinson, a GP, acknowledges that patients may legitimately use AI chatbots to investigate health concerns but emphasises the critical importance of discussing findings with registered healthcare practitioners. This balanced perspective acknowledges people’s right to seek information whilst maintaining professional oversight. The British Medical Association and similar medical organisations have likewise recommended for artificial intelligence incorporation within structured medical frameworks rather than as a replacement for clinical assessment. Experts emphasise that AI tools should enhance rather than circumvent clinical expertise, particularly given the complexity of uncommon hereditary disorders demanding specialist knowledge and DNA analysis confirmation.
Cardiff and Vale University Health Board’s handling of Phoebe’s case recognised her difficult experience whilst implicitly defending the challenges doctors face when diagnosing rare conditions affecting relatively few patients. Medical professionals argue that hereditary spastic paraplegia’s rarity and numerous genetic variations make it fundamentally challenging to identify without targeted genetic analysis. However, the case has sparked consideration within the healthcare community about enhancing diagnostic routes for patients with atypical presentations. Healthcare leaders are increasingly acknowledging that establishing better communication protocols and reduced barriers for genetic testing referrals could prevent similar diagnostic delays whilst upholding strict clinical criteria.
- AI should support clinical decision-making, not substitute for medical expertise and diagnostic assessment
- Patients working with AI systems must discuss findings with qualified healthcare professionals before proceeding
- Healthcare systems must improve diagnostic frameworks for uncommon disorders and unusual symptom patterns
Progressing Forward: Life Following Diagnosis
Since receiving her confirmed diagnosis of hereditary spastic paraplegia in 2025, Phoebe Tesoriere has started adjusting to life with a clear understanding of her condition. The genetic testing results has given her answers after years of uncertainty and misdiagnosis, allowing her healthcare team to create a more focused treatment approach. Phoebe has emerged as a champion for improved diagnostic pathways, publicly sharing her experience to raise awareness of hereditary spastic paraplegia amongst both patients and healthcare professionals. Her experience has underscored the importance of listening to patients who persistently report symptoms that don’t fit conventional diagnoses, and she continues to work with medical professionals to handle her condition effectively.
Phoebe’s path has also triggered broader dialogue within the NHS about testing procedures for rare conditions affecting the nervous system. Whilst she acknowledges the real difficulties doctors deal with when identifying unusual inherited diseases, she remains committed to preventing others from experiencing the four-year diagnostic odyssey she experienced. Her case has sparked consideration amongst healthcare leaders about implementing lower thresholds for genetic test referrals and enhancing dialogue with patients presenting with unusual symptoms. Looking ahead, Phoebe hopes her account will encourage both healthcare professionals and patients to keep searching for answers, showing that rare conditions, though challenging to identify, should never be regarded as merely psychological.