"Nina Frost knows that she might be too late to cure her daughter, but she keeps up the fight - one day, her work might transform the life of another child. Annabel Frost, 10, has a rare condition that triggers seizures severe enough to inflict brain damage, cognitive defects, and movement problems. For Annabel's first two years, Nina and her husband, Simon, grappled with the condition's invisible menace as doctors tried and failed to provide an explanation."
"While the verdict gave the Frosts a name for the illness endangering their child, it brought them little relief. Instead, it clarified the challenges that lie ahead: the difficult road that AHC patients face; how little scientists understand about a genetic condition afflicting only a few thousand people globally; and, most painful of all, how remote the chances of a cure."
A 10-year-old girl, Annabel Frost, has alternating hemiplegia of childhood (AHC), a rare genetic disorder that causes seizures severe enough to cause brain damage, cognitive deficits, and movement problems. Diagnosis followed a move to specialized care and revealed how little is known about AHC and how few patients exist globally. Parents face relentless uncertainty and the risk of progressive injury. Recent laboratory work by a Harvard and Broad researcher corrected AHC genetic defects in mice using a 2019-developed gene-editing technique, raising cautious hope for potential future therapies despite remote chances of immediate cures for current patients.
Read at Harvard Gazette
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