“A Boy Saw 17 Doctors over 3 Years for Chronic Pain. ChatGPT Found the Diagnosis”, 2023-09-11 ():
During the COVID-19 lockdown, Courtney bought a bounce house for her two young children. Soon after, her son, Alex, then 4, began experiencing pain…In total, they visited 17 different doctors over 3 years. But Alex still had no diagnosis that explained all his symptoms. An exhausted and frustrated Courtney signed up for ChatGPT and began entering his medical information, hoping to find a diagnosis.
“I went line by line of everything that was in his (MRI notes) and plugged it into ChatGPT”, she says. “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.”
She eventually found tethered cord syndrome and joined a Facebook group for families of children with it. Their stories sounded like Alex’s. She scheduled an appointment with a new neurosurgeon and told her she suspected Alex had tethered cord syndrome. The doctor looked at his MRI images and knew exactly what was wrong with Alex.
“She said point blank, ’Here’s occulta spina bifida, and here’s where the spine is tethered”, Courtney says…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, according to the US Centers for Disease Control and Prevention. “My son doesn’t have a hole. There’s almost what looks like a birthmark on the top of his buttocks, but nobody saw it”, Courtney says. “He has a crooked belly button.” Gilmer says 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. Then doctors rely on symptoms to make the diagnosis, which can include dragging a leg, pain, loss of bladder control, constipation, scoliosis, foot or leg abnormalities and a delay in hitting milestones, such as sitting up and walking. “In young children, it can be difficult to diagnose because they can’t speak”, Gilmer says, adding that many parents and children don’t realize that their symptoms indicate a problem. “If this is how they have always been, they think that’s normal.”
…After receiving the diagnosis, Alex underwent surgery to fix his tethered cord syndrome a few weeks ago and is still recovering. “We detach the cord from where it is stuck at the bottom of the tailbone essentially”, Gilmer says. “That releases the tension.”
Courtney shared their story to help others facing similar struggles. “There’s nobody that connects the dots for you”, she says. “You have to be your kid’s advocate.”