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Young boy suffering chronic pain for 3 years finally receives correct diagnosis from ChatGPT

September 14, 2023

At the age of 4, Alex began having "gigantic meltdowns" of pain and daily Motrin was the only thing that calmed him down and alleviated his pain. But then he began chewing things, so his mother Courtney took him to the dentist thinking he was having issues with molars or cavities.

What followed was a three-year search involving visits to 17 clinicians, including pediatricians, orthodontists, ENTs, ER physicians, and neurologists to find the cause of Alex's increasing pain and eventually other symptoms, which included grinding teeth, a dragging leg and inability to sit cross-legged, severe headaches, exhaustion, and failure to thrive.

No matter how many doctors the family saw, the specialists would only address their individual areas of expertise, Courtney says.

One evening, in despair, the frustrated mother created an account with OpenAI's ChatGPT and shared with the artificial intelligence platform everything she knew about her son's symptoms and all the information she could gather from his MRIs.

“I went line by line of everything that was in his (MRI notes) and plugged it into ChatGPT,” she said. “I put the note in there about ... how he wouldn’t sit crisscross applesauce. To me, that was a huge trigger (that) a structural thing could be wrong."

When ChatGPT suggested a diagnosis of tethered cord syndrome, "it made a lot of sense," she recalls. Courtney found a Facebook group for families of children with tethered cord syndrome. She was able to schedule an appointment with a neurosurgeon who examined Alex's MRI images and knew exactly what was wrong.

Tethered cord syndrome is a rare neurological condition in which the spinal cord attaches to the surrounding tissues of the spine. This prevents the spinal cord from moving to keep up with the lengthening of the spine as it grows. The result may be nerve damage and severe pain.

After receiving the diagnosis, Alex underwent surgery to fix his tethered cord syndrome a few weeks ago and is still recovering.

Experts say that the condition is closely associated with spina bifida, a birth defect where part of the spinal cord doesn’t develop fully and some of the spinal cord and nerves are exposed. However, in many children with spina bifida, there’s a visible opening in the child’s back. But the type Alex had is closed and considered “hidden,” also known as spina bifida occulta.

Doctors often find these conditions soon after birth, but in some cases, the marks—such as a dimple, a red spot or a tuft of hair—that indicate spina bifida occulta can be missed. In Alex's case, clinicians missed such a birthmark.

While ChatGPT can be especially beneficial for patients with complicated conditions, who are struggling to get a diagnosis, the AMA cautions that while AI products such as ChatGPT may ultimately be successfully utilized in direct patient care, OpenAI’s ChatGPT and other generative AI products "currently have known issues and are not error free."

Nonetheless, Courtney hopes that sharing her son's story may help other parents facing similar struggles, insisting that “you have to be your kid’s advocate.”

Sources:

Holohan, M. TODAY.com. (2023, September 11). A boy saw 17 doctors over 3 years for chronic pain. ChatGPT found the diagnosis. https://www.today.com/health/mom-chatgpt-diagnosis-pain-rcna101843

Dobrin, N. People. (2023, September 12). A Boy Suffering Chronic Pain for 3 Years Finally Receives Correct Diagnosis from ChatGPT. https://people.com/boy-suffering-chronic-pain-for-3-years-finally-receives-diagnosis-via-chatgpt-7968393

(Accessed 2023, September 13.) NIH. National Institute of Neurological Disorders and Stroke. Tethered Spinal Cord Syndrome. https://www.ninds.nih.gov/health-information/disorders/tethered-spinal-cord-syndrome