A mom from the U.S. was devastated when doctors warned her newborn daughter was unlikely to ever walk or talk. Twenty-eight-year-old “Bambi,” who does not share her name publicly, told Newsweek that complications during birth left her daughter with a severe hypoxic ischemic encephalopathy (HIE) diagnosis. HIE is a form of brain injury caused by a lack of oxygen to the brain around the time of birth.
Based on MRI scans and neonatal seizures observed shortly afterward, her daughter's neonatal intensive care unit (NICU) team warned the family to prepare for significant developmental limitations. Doctors discovered her daughter had pyruvate dehydrogenase complex deficiency (PDCD), a rare genetic metabolic disorder that affects how the body converts carbohydrates into energy. Receiving that news was devastating and almost impossible for Bambi to process.
Her daughter spent two weeks in the NICU during the COVID-19 pandemic, and Bambi was often there alone. Despite what doctors considered the most likely outcome, she refused to let a prognosis dictate her efforts. I didn't need to believe she was definitely going to achieve a particular milestone to want to find out.” The family pursued every intervention they could access.
Early on, living in an underserved area made therapy difficult to obtain. Bambi turned to online resources, friends in education and, eventually, state intervention programs. The parents drained savings to pay for therapy when insurance coverage ran out.
The work itself, Bambi said, was often far less glamorous than the milestone videos she eventually posted on TikTok. Today, her now 5-year-old daughter receives multiple therapies and is participating in a clinical trial involving dichloroacetate (DCA), a medication designed to help regulate mitochondrial energy production. Combined with a ketogenic diet, Bambi said the treatment has coincided with significant developmental gains.
However, she's very happy, very opinionated, and relatively healthy. Still surprising us every day with new skills.” For parents facing similarly daunting prognoses, Bambi said that unlikely doesn’t mean impossible. Get second opinions when they're warranted.
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