In a case that underscores the growing influence of artificial intelligence in modern healthcare, an American mother turned to ChatGPT to help diagnose her four-year-old son’s mysterious medical condition—after 17 doctors failed to provide answers. The AI chatbot not only identified the rare disorder but also set the family on the path to obtaining the treatment the child urgently required.
According to a report by TODAY.com, Courtney, mother to young Alex, began observing troubling symptoms in her son during the COVID-19 pandemic. Over a period of more than three years, the child suffered from persistent tooth pain, delayed growth, problems with balance and coordination, and noticeable changes in posture. Despite seeking the expertise of multiple paediatricians, neurologists, dentists and other specialists, the family remained without a clear diagnosis.
“I was seeing every specialist, and nobody could tell me what was wrong,” Courtney told the publication. Frustrated and desperate for answers, she decided to try something unconventional. She inputted Alex’s MRI notes into ChatGPT, along with a detailed list of his symptoms, one by one.
Within seconds, ChatGPT returned a potential diagnosis: Tethered Cord Syndrome, a rare neurological condition in which the spinal cord is abnormally attached within the spinal column, restricting movement. Left untreated, the disorder can cause nerve damage and worsening physical symptoms as a child grows.
Courtney, who had no prior knowledge of the condition, began researching the syndrome and joined a Facebook group for parents whose children had been diagnosed with Tethered Cord Syndrome. In the group, she found further confirmation that her son’s symptoms matched those of others. Armed with this information, she then approached a new neurosurgeon—one who had not previously examined Alex.
To her astonishment, the specialist confirmed the diagnosis. Alex was scheduled for spinal surgery shortly thereafter, a procedure which he has since undergone successfully. According to Courtney, her son is now on the road to recovery.
The case has since garnered widespread attention and has sparked renewed debate about the role of artificial intelligence in supporting medical decision-making. Many have lauded ChatGPT’s ability to recognise a condition missed by numerous healthcare professionals, particularly one as rare as Tethered Cord Syndrome.
However, medical experts have also issued cautionary notes. While AI tools such as ChatGPT, developed by OpenAI, and similar technologies by Google and others can assist in compiling and analysing data, they are not substitutes for professional medical evaluation. These systems can sometimes generate factually incorrect or misleading results—a phenomenon known in the industry as “AI hallucination”.
“This is a remarkable case, but we must be careful not to treat AI tools as replacements for trained clinicians,” said one healthcare technology analyst. “They can be incredibly powerful in surfacing potential leads, especially in rare or complex cases, but they still require verification from medical professionals.”
Nevertheless, the case has highlighted AI’s potential utility in supplementing diagnostic processes—particularly in scenarios where access to advanced medical expertise may be limited.
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