By Meghan Holohan - TODAY
During the COVID-19 pandemic, Courtney bought a bouncy castle for her two young children. Soon after, her son Alex, then 4 years old, began to feel severe pain.
"(Our babysitter) started telling me, 'I have to give you Motrin (an anti-inflammatory) every day, or you have terrible breakdowns,'" said Courtney, who asked not to use her last name to protect her family's privacy. "If he was given Motrin, he was totally fine."
But Alex started chewing on objects, so Courtney took him to the dentist. That would lead her to undertake a three-year search to find the cause of the boy's growing pain and other symptoms that followed.
Alex, the boy who was diagnosed with the help of ChatGPT.Courtesy Courtney
Earlier this year, Courtney finally got some answers from an unlikely source, the artificial intelligence chatbot ChatGPT.
Frustrated, the mother created an account and shared with the artificial intelligence platform everything she knew about her son's symptoms and all the information she was able to gather from his MRIs.
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"We saw a lot of doctors. And at one point we ended up in emergencies, but I kept pushing," he says. "I spent the night on the computer... going over all these things."
So when ChatGPT showed that the child could suffer from tethered cord syndrome, "it made a lot of sense," recalls the mother.
Many symptoms and doctors, but no diagnosis
When Alex started chewing things, his parents wondered if his molars were coming out and causing him pain. They also thought I had cavities.
"Her sweet personality was being overshadowed by tantrums she didn't have before," Courtney recalls.
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The dentist "ruled everything out," but thought Alex might be grinding his teeth and believed an orthodontist who specializes in airway obstruction could help. Airway obstructions affect children's sleep and could explain why Alex seemed so exhausted and grumpy, the dentist thought.
The orthodontist discovered that Alex's palate was too small for his mouth and teeth, making it difficult for him to breathe at night. He put an expander on it and it looked like things would get better.
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"Everything got better for a while," Courtney says. "We thought we were overcoming the problem."
But then she realized that Alex had stopped growing, so they visited the pediatrician, who thought the pandemic was negatively affecting her development. In early 2021, Courtney took her son to the doctor again.
"I had grown very little," he says.
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The pediatrician recommended that she take him to physical therapy because he seemed to have some imbalances between the left and right side. "He was in the lead on his right foot and just supported his left," Courtney explains.
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But before starting physiotherapy, Alex was already suffering from severe headaches that began to worsen. They took him to a neurologist, who told them he had migraines. The boy was also frequently tired, so he was taken to an otolaryngologist to see if he had sleep problems.
Even though the family consulted numerous doctors, the experts only dealt with their individual areas of expertise, Courtney says.
"No one is willing to solve the bigger problem," he adds. "No one will even give you a clue as to what the diagnosis might be."
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Then a physical therapist thought Alex might have something called Chiari malformation, a congenital disease that causes abnormalities in the part of the skull where the brain joins the spine, according to the American Association of Neurological Surgeons.
Courtney started researching and they visited more doctors—a new pediatrician, a pediatric internist, an adult internist, and a musculoskeletal physician—but they got no solution.
In total, they visited 17 different doctors in three years. But Alex still didn't have a diagnosis that explained all of his symptoms. Courtney, exhausted and frustrated, began entering the boy's medical information into ChatGPT in hopes of finding an answer.
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"I went through everything in his (MRI) notes line by line and entered it into ChatGPT," he says. "I put the note about... that he couldn't sit with his hands folded. To me, that was a big trigger (that) there was something important wrong."
Tethered cord syndrome
In the end, she found tethered medulla syndrome and joined a Facebook group created by families of children who suffered from it. Their stories sounded like Alex's. She made an appointment with a new neurosurgeon and told her she suspected Alex had the syndrome. The doctor looked at the MRI images and knew exactly what was wrong with the child.
"He told me bluntly, 'Here's spina bifida, and here's where the marrow is anchored,'" Courtney says.
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Tethered cord syndrome occurs when spinal cord tissue forms junctions that limit its movement causing it to stretch abnormally, according to the American Association of Neurological Surgeons.
In tethered cord syndrome, "the spinal cord is attached to something. It may be a tumor in the spinal canal. It could be a bulge in a spike of bones. It could be that there is too much fat at the end of the spinal cord," explains Dr. Holly Gilmer, a pediatric neurosurgeon at Michigan Head & Spine Institute, who treated Alex. "The anomaly cannot be prolonged ... and pull [the marrow]."
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It can occur in patients with spina bifida, a birth defect in which part of the spinal cord does not fully develop and nerves are exposed.
In many children with spina bifida, there is a visible opening in the child's back. But the type Alex had makes that opening closed, so it can be difficult to diagnose, according to the CDC.
"My son doesn't have a hole. He has what almost looks like a birthmark on the top of his buttocks, but no one saw it," Courtney says. "His navel is crooked."
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Gilmer says doctors usually catch these conditions soon after birth, but in some cases they can go unnoticed.
Doctors then rely on symptoms to make the diagnosis, which can include dragging a leg, pain, loss of bladder control, constipation, scoliosis, abnormalities in the feet or legs, and delayed learning skills such as sitting and walking.
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"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 their symptoms indicate a problem. "If they've always been like this, they think it's normal."
When Courtney came up with a diagnosis for Alex, she experienced "emotions of relief, validation, and excitement about his future."
ChatGPT: advantages and limitations
ChatGPT is a type of artificial intelligence program that responds based on the data a person provides, but it can't hold a conversation or give answers in the way many people would expect.
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That's because ChatGPT works by "predicting the next word" in a phrase or series of words based on existing text data on the internet, says Dr. Andrew Beam, an assistant professor of epidemiology at Harvard who studies machine learning models and medicine.
"Every time you ask ChatGPT a question, it's remembering from memory the things it's read before and trying to predict the piece of text," he adds.
When using ChatGPT to make a diagnosis, a person can tell the program, "I have fever, chills and body aches," and he simply suggests "flu" as a possible diagnosis, Beam explains.
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"He will do everything in his power to offer you a piece of text that resembles the passage he has read," he adds.
There are both free and paid versions of ChatGPT, and the latter works much better than the free version, Beam says. But both seem to work better than some symptom-checking tools or Google. "It's a very powerful medical search engine," Beam says.
It can be especially beneficial for patients with complicated illnesses who are struggling to get a diagnosis, Beam says.
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These patients are "fumbling for information," he adds. "I think ChatGPT can be a good ally in that odyssey of achieving a diagnosis. He has read literally the entire internet. It may not have the same limitations as the human doctor."
But it's not likely to replace a doctor's knowledge in the short term, he says. For example, sometimes ChatGPT fabricates information when it doesn't find an answer. If asked about flu studies, the tool may respond with several titles that seem real, and the authors it lists may have written about the flu, but the articles may not exist.
Back to being a happy child
Alex is happy when he plays with other children. Last year he played baseball, but quit because he got injured. In addition, he had to give up hockey because wearing ice skates hurt his back and knees. But he found a way to adapt.
"He's very smart," Courtney says. "He climbs on an object, climbs on a chair and starts playing that he's a coach. So, it stays in the game."
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After receiving the diagnosis, Alex underwent an operation a few weeks ago to correct the tethered cord syndrome.
"Essentially, we separated the marrow from where it was stuck at the bottom of the coccyx," Gilmer says. "That releases tension."
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Alex is still recovering. Gilmer says children recover from this operation relatively quickly. Treatment often reduces symptoms, he says. Alex's mother says she now sees his face full of joy.
Courtney shared her story to help others facing similar struggles. "There's no one to do this work for you," he says. "You have to be the one advocating for your child."