**Mother Utilises AI to Uncover Rare Diagnosis for Sick Child**
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After a protracted and arduous journey through numerous medical evaluations, Hilary Eaton found a surprising ally in artificial intelligence to help decode her daughter Olivia’s perplexing health issues. With a career in biotechnology, Eaton’s experience as a scientist equipped her with the skills to tackle the challenges of navigating a medical landscape filled with uncertainties.
Olivia, now 7, had been grappling with hearing loss, developmental delays, and a persistent string of illnesses since birth. This troubling scenario led Eaton, 42, to numerous appointments—over 150 in a single year—with nearly fifty different specialists. Despite her background, the answers remained frustratingly elusive, with each doctor presenting their own hypotheses without a definitive diagnosis.
Reflecting on this chaotic experience, Eaton stated, “Managing over 150 doctor’s appointments a year and coordinating medications is no small feat. It became increasingly overwhelming.” With an older daughter, Fiona, 9, alongside her husband Matthew, 44, juggling family life and Olivia’s complex medical needs proved challenging.
In a moment of desperation, Eaton decided to try ChatGPT, an AI-driven tool that she had previously used professionally in her biotech role. “I thought, why not input all this information into ChatGPT?” she recalled. The AI-assisted her by sifting through years of medical documentation, observations, and genetic data, steering her towards potential patterns and inquiries to explore further with her medical team.
One significant piece of information that emerged from her interactions with ChatGPT was the possibility of Common Variable Immunodeficiency (CVID), a condition affecting the immune system. While the AI did not diagnose Olivia, it aided Eaton in organising the complex data and formulating relevant questions for her healthcare providers.
Olivia’s health issues became evident immediately after birth when she failed a newborn hearing screening, followed by subsequent tests revealing her limited ability to perceive sound. By nine months old, she struggled to sit independently, prompting concerns regarding her developmental progress. “Her inability to hear those early lullabies and stories was heartbreaking,” Eaton recalled.
Patterns of developmental delays continued as Olivia grew, compounded by an array of illnesses. During the pandemic, therapy appointments transitioned online, complicating her progress further. It wasn’t until around 22 months that Eaton discerned Olivia’s unique movement method, a peculiar ‘butt scoot’, instead of traditional crawling or walking.
As doctors considered various potential diagnoses, from muscular dystrophy to connective tissue disorders, definitive answers eluded them. Despite targeted genetic tests yielding no results, Eaton and Matthew pursued private genome sequencing, which, despite a financial burden, became a necessary step in their quest for clarity.
In tandem with her professional use of ChatGPT, Eaton leveraged its capabilities to process research papers, enabling her to make sense of the overwhelming amount of information. “I can’t digest hundreds of academic articles alone. The tool helped me find clarity amidst the noise of data,” she explained.
The culmination of their efforts led to a breakthrough. Further genetic evaluations confirmed Olivia’s diagnosis of CVID as well as a rare neurodevelopmental syndrome, which tied into her immune dysfunctions, particularly concerning B-cell activity. Olivia subsequently began monthly immunoglobulin infusions, a treatment that proved life-altering; her school attendance notably improved after she began to miss fewer days due to illness.
“Before, we were receiving truancy notices due to her absences. Once on treatment, she barely missed three days in an entire school year. The change was remarkable,” Eaton shared. She continued to harness ChatGPT, asking for recommendations regarding specialists that could further assist Olivia’s care, with neurology being suggested as a necessary field to explore.
As Olivia developed new symptoms, including motor tics, Eaton’s reliance on ChatGPT grew. The AI helped her document Olivia’s medical history and foster pertinent questions for upcoming appointments. An EEG, recommended by the AI, revealed unusual brain activity, particularly during sleep, helping to explain Olivia’s chronic sleep disturbances.
Now able to articulate her understanding of her unique health circumstances, Olivia asked her mother whether sharing her story could lead to new medications being developed specifically for her condition. Although Eaton couldn’t assure her of that outcome, she highlighted the potential for their experiences to resonate with other families facing similar challenges and possibly advance research in rare diseases.
Reflecting on her long journey, Eaton remarked, “AI did not provide all the answers, but it became an invaluable tool in my toolbox.” She emphasised that the utility of AI is contingent upon how individuals choose to use it and the quality of information shared with it. Through her story, Eaton hopes to inspire other families navigating the complexities of medical diagnoses, advocating for increased awareness and research into rare health conditions.