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More about Quinn

Read about how Duke helped Quinn pinpoint an ultrarare diagnosis (Working@Duke)

When Quinn Mills was born, his parents, Jamie Mills and Liz Aronin, sensed something wasn’t right. Feeding was difficult, he didn’t babble like other babies, and his eyes seemed to drift. As an infant, Quinn developed seizures, needed surgery for cataracts in both eyes, and required a feeding tube after failing to gain weight. Periods of intense, unexplained pain left him inconsolable. “We didn’t know why this was happening,” Jamie said. “There wasn’t anything we could tie this to.”

Quinn received care from multiple Duke specialists, but early genetic testing in 2015 provided no answers. The family then turned to Duke’s site of the Undiagnosed Diseases Network, a research program supported by the National Institutes of Health. At Duke, clinicians and researchers conducted advanced exams and DNA sequencing, comparing Quinn’s results with global genetic databases.

That research‑driven care led to a diagnosis: a rare mutation in the NACC1 gene affecting Quinn’s neurological development, with only a handful of known cases worldwide. The finding confirmed the condition was not inherited, easing fears for Jamie and Liz.

Today, Duke researchers continue to study the disorder, helping families connect and advancing understanding of rare diseases. “I can’t even imagine what our life would be like without Quinn’s diagnosis,” Jamie said.