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When the Ailment You're Studying Becomes Personal

FOXG1 mutations are exceptionally rare — only about 300 people in the world are known to have the syndrome — but in an against-all-odds twist, one of the few people who is studying the syndrome learned a few years ago that her daughter has it.

Soo-Kyung Lee, a developmental biologist at Oregon Health and Science University, found out her daughter Yuna had a mutation on the FOXG1 gene when she was 2 years old. Before the diagnosis, Lee was befuddled by the seizures and fits of crying that her daughter experienced, as well as her inability to stand, walk, or speak, The New York Times says.  

It was only at a work-related dinner, when she sat next to David Rowitch, a noted neonatologist and neurologist, that their conversation would trigger a series of events that eventually led to Yuna's diagnosis.

"Suddenly, Soo-Kyung, 42, and her husband Jae Lee, 57, another genetics specialist at OHSU, had to transform from dispassionate scientists into parents of a patient, desperate for answers," the Times says.

Now 8 years old, Yuna has the cognitive development of an 18-month old. Two years ago, she finally was able to sit up on her own, a skill usually mastered by babies at 6 months old.

Small victories keep Lee hopeful about the future for Yuna.

"I was afraid every day that she might not be with me the next day," Lee says. "But she's done amazing things that we wouldn't dare to dream. So, how can anyone say she will never be able to do this, she will never be able to do that?"