An AI chatbot has helped to identify a uncommon neurological disorder in a Welsh woman after she 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, epilepsy and depression, while presenting with increasingly severe symptoms such as seizures, mobility problems and loss of balance. Following a major seizure that left her in a coma for three days in July 2025, Phoebe consulted ChatGPT to investigate her condition. The AI tool suggested several conditions, among them hereditary spastic paraplegia—a uncommon inherited condition affecting the nervous system. After presenting this finding to her GP, genetic testing confirmed the finding, finally providing answers after years of frustration and poor management in the NHS.
A 4-Year Passage Across Medical Uncertainty
Phoebe’s health issues began years before her diagnosis. During her formative years, she encountered a persistent limp, which she put down to being born without a proper hip joint and having corrective surgery as an infant. She also struggled with coordination issues and was tested for dyspraxia, a neurological condition affecting physical motor control, though the results turned out inconclusive. These early symptoms would subsequently become significant in understanding her root cause, yet at the point in time they remained unaccounted for and often overlooked by doctors.
The situation worsened significantly when Phoebe was 19 years old. She collapsed and suffered a seizure whilst at work, a frightening experience that should have prompted comprehensive enquiry. Instead, doctors attributed the episode to anxiety—a diagnosis that was subsequently added to her medical records despite Phoebe having never previously suffered from anxiety disorders. She characterised herself as “a really happy, bubbly person” before this incident, making the diagnosis seem especially misaligned. This mischaracterisation would establish the pattern for years of inappropriate treatment and mounting frustration.
- Childhood limp attributed to hip surgery, not underlying neurological condition
- Balance difficulties assessed for dyspraxia but results proved negative
- First seizure at 19 misdiagnosed as anxiety episode
- Anxiety diagnosis added to medical records without proper investigation
The Critical Juncture: ChatGPT’s Remarkable Breakthrough
After spending three days in a coma after 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 contradicted years of treatment and the earlier epilepsy diagnosis she had received in 2022. Frustrated by the cyclical pattern in her medical journey and feeling unheard by healthcare professionals, Phoebe made the decision to turn to an unconventional source 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 collection of clinical presentations—advancing loss of strength, balance difficulties, 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 earlier remained scattered across different diagnostic categories. Phoebe recognised immediately that this condition might at last offer the single coherent understanding she had been seeking.
From Uncertainty to Affirmation
Armed with the ChatGPT suggestion, Phoebe consulted her doctor with details regarding hereditary spastic paraplegia. Rather than outright rejecting the AI-generated hypothesis, her doctor treated the recommendation with seriousness and organised genetic tests. This pragmatic approach proved 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 providing a concrete diagnosis after four years of misdiagnosis and medical uncertainty.
The confirmation marked a significant moment for Phoebe, though it also underscored the constraints of her previous medical care. Her GP, Dr Rebeccah Tomlinson, has since recognised the role artificial intelligence can have in medical research, whilst stressing the importance of expert validation. She noted that when people use AI chatbots to investigate health concerns, these findings should be discussed with trained healthcare experts before reaching conclusions. This measured approach acknowledges both the potential benefits of AI in healthcare and the irreplaceable value of expert clinical judgment.
Understanding Hereditary Spastic Paraplegia
Hereditary spastic paraplegia (HSP) is a rare genetic neurological disorder marked by progressive weakness and stiffness in the legs. The condition involves the spinal cord, particularly the nerve fibres controlling leg movement. HSP comes in various types, with more than 80 genetic variations identified, presenting diagnostic challenges for medical professionals. Symptoms usually appear gradually and can include problems with walking, balance problems, reduced muscle strength, and in some cases, seizures. The disease’s uncommon nature means numerous physicians have little experience recognising it, which partly accounts for why Phoebe’s condition remained undiagnosed for so long despite exhibiting 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 variable symptom presentations across distinct variants, even seasoned neurological specialists can find it difficult to recognise the condition without DNA analysis. Phoebe’s case illustrates how uncommon hereditary conditions can be missed when symptoms coincide with more common conditions like epilepsy or anxiety disorders, emphasising the essential significance of comprehensive hereditary assessment when standard diagnoses do not adequately account for a patient’s presenting symptoms.
The Larger Conversation Concerning AI in Medical Care
Phoebe’s situation has sparked discussions about the place of artificial intelligence in diagnostic processes and healthcare delivery. Whilst her example showcases AI’s potential to uncover missed conditions, medical professionals and scientists advise against regarding AI systems as diagnostic instruments. A latest Oxford University investigation found that people seeking medical guidance through AI were given varied recommendations, ranging from helpful information to risky suggestions. This variability creates considerable difficulties for patients attempting to separate trustworthy advice from inaccurate recommendations, especially in cases managing rare or complex disorders that demand expert expertise and thorough medical assessment.
The incident also highlights key concerns about patient autonomy and the responsiveness of healthcare systems to individuals who feel unheard. Many patients resort to AI tools out of frustration when conventional medical routes don’t work, revealing shortfalls in diagnostic processes. Phoebe’s willingness to use ChatGPT arose from experiencing profound loneliness 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 cannot provide answers, suggesting that improvements in diagnostic protocols and patient communication may be equally important as establishing clear guidelines for AI tool usage in medical contexts.
Specialist Views on AI-Powered Medical Devices
Dr Rebeccah Tomlinson, a general practitioner, acknowledges that patients may legitimately use AI chatbots to investigate health concerns but stresses the critical importance of reviewing results with registered healthcare practitioners. This measured approach recognises people’s right to seek information whilst preserving clinical supervision. The British Medical Association and other healthcare bodies have similarly advocated for artificial intelligence incorporation within formal clinical systems rather than as a substitute for clinical assessment. Experts emphasise that artificial intelligence systems should enhance rather than bypass clinical expertise, especially considering the complexity of rare genetic conditions demanding expert understanding and DNA analysis confirmation.
Cardiff and Vale University Health Board’s handling of Phoebe’s case acknowledged her challenging journey whilst implicitly defending the challenges doctors face when identifying rare conditions affecting a small number of patients. Medical professionals argue that hereditary spastic paraplegia’s rarity and multiple genetic variants make it inherently difficult to detect without targeted genetic analysis. However, the case has sparked consideration within the medical sector about improving diagnostic pathways for patients with atypical presentations. Healthcare leaders increasingly recognise that developing improved communication frameworks and lower thresholds for referrals for genetic testing could avoid comparable diagnostic postponements whilst upholding strict clinical criteria.
- AI should complement clinical decision-making, not replace medical expertise and diagnostic assessment
- Patients employing AI-based tools must discuss findings with registered healthcare providers prior to taking action
- Healthcare systems must improve diagnostic frameworks for uncommon disorders and atypical symptom presentations
Progressing Forward: Life After Diagnosis
Since getting her verified 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 develop a more focused 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 underscored the importance of listening to patients who consistently describe symptoms that don’t match conventional diagnoses, and she continues to work with healthcare providers to handle her condition effectively.
Phoebe’s path has also generated broader conversations within the NHS about testing procedures for uncommon neurological disorders. Whilst she accepts the genuine challenges doctors face when diagnosing uncommon genetic disorders, she remains committed to preventing others from experiencing the four-year diagnostic journey she underwent. Her case has encouraged review amongst healthcare leaders about reducing barriers for referrals for genetic testing and enhancing dialogue with patients presenting with unusual symptoms. Going forward, Phoebe believes her account will encourage both patients and clinicians to persist in seeking answers, demonstrating that rare disorders, though challenging to identify, should never be written off as psychological in nature.