'Baby Z' is pictured in Melbourne. The Australian baby has become the first person to be cured of a rare and often fatal brain-poisoning condition thanks to an experimental treatment previously tested only on mice.
The child, known only as "Baby Z", was born with molybdenum cofactor deficiency, a genetic condition in which a build-up of toxic sulphite causes fits and brain damage, typically killing victims within a few months of birth.
"This is a first life-saving treatment for this fatal disease with global implications," said neo-natologist Alex Veldman, calling it a "special first-time cure".
Veldman said Baby Z started having seizures within 60 hours of her birth in May 2008, prompting her family to appeal to a biochemist to help treat the previously incurable condition.
The chemist, Rob Gianello, discovered an experimental drug which had been successfully used on mice by a German doctor, Gunther Schwarz, but had never been tested on humans.
As Schwarz couriered his entire stock of the compound from Cologne to Melbourne, doctors were in a race against time to get ethics approval from the hospital and a court order clearing its use, with Baby Z worsening by the hour.
"The team ... managed to get this therapy from bench to bedside in about two weeks, a process which normally takes several years," Veldman said.
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