Health and Medicine · Ordinary People
The Eatons counted seven healthy days in Olivia's year, then started a folder called Genome Detectives
Hilary Eaton, Matt Eaton · Winchester, MA, USA
Hilary and Matt Eaton are scientists, but they are not doctors and not geneticists. Over about eighteen months of late nights, the two of them worked through their own family's genome with ChatGPT, reading every paper it cited before they believed any of it.
The person and the place
Hilary Eaton and Matt Eaton live in Winchester, Massachusetts, with their daughters Fiona and Olivia. Hilary Eaton has a PhD in molecular cancer biology and did a postdoctoral fellowship at Harvard Medical School. Matt Eaton is a computational biologist who did postdoctoral research at MIT. Neither of them is a physician.
The problem the Eatons cared about
Olivia had been sick since infancy. Colds that ran for weeks, scrapes that would not close, a newborn hearing screening failed, and not one night of unbroken sleep. A connective tissue disorder accounted for some of the early physical delays and none of the illness. The parents kept a calendar and marked every day without a respiratory or skin infection. Adding them up, Eaton told the Globe, "it was like seven days out of the year that she was healthy." At the worst of it, PEOPLE reported, the family was carrying more than 150 doctor's appointments a year across 49 specialists.
The agency moment
In January 2025, a lab result landed on Eaton's phone in the middle of a work meeting. Olivia's antibody levels were far below where a healthy child's should be, and the doctor was not reachable that minute. "I'm just going to shove everything into it," Eaton recalled deciding, and typed the symptoms and the test results into ChatGPT, asking what the possible diagnoses were. What came back was not a diagnosis, and Eaton has been consistent about that in both interviews. It was a place to start. "It just felt like I could have some iota of agency or control back," Eaton told the Globe, "that I could start having a conversation where I'm not just sort of the passenger [on] a roller coaster that is totally off the rails."
What changed, with evidence
In 2023 the Eatons had paid about $4,500 to sequence all four family genomes. Now they worked it after bedtime, saving what they found in a shared folder labeled "Genome Detectives." They set the rules before they started: they told the model what their training was, told it how they wanted it to work, and required a citation for everything, because they intended to read the papers themselves. That last rule earned its keep. When the model flagged a mutation whose literature said those children die between seven and ten, they lost two hours to terror before the real culprit turned up, which was errors in the sequencing data rather than anything in Olivia. The finding that held was a different mutation, one that might explain why a scrape took so long to close and why a Band-Aid could take skin with it. Doctors ordered more genetic testing on the strength of it, and the testing pointed to Okur-Chung neurodevelopmental syndrome, estimated to affect about 1 in 100,000 people. Dr. Wendy Chung, who co-discovered the syndrome and is chief of pediatrics at Boston Children's Hospital, treats Olivia and puts the condition on all of it: the tools work when they are a partnership with medical providers. Olivia started monthly antibody infusions. "She's missed three days of school," Eaton said. "That's it." Later, preparing for a neurology appointment, the chatbot suggested asking about an EEG. Dr. John McLaren agreed it was worth "sort of 'peeking under the hood,'" the test found abnormal brain activity, and on medication Olivia slept through the night, which had not happened once since birth.
The move worth copying
Eaton never asked the machine for the answer. "ChatGPT told me where to look," is how PEOPLE has it, and then Eaton went and looked, and took what turned up to people with medical degrees. The sequencing is out of reach for most of us. The rest of it is not: before your next appointment, try asking for the questions you should be asking, ask for the citations, read them, and walk in with a list instead of a worry.
"This is us just amateur spelunking, basically, in our daughter's DNA." — Hilary Eaton, to The Boston Globe
Sources
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