A Victorian baby with a rare metabolic disease has amazed the medical world with her positive response to an experimental drug used only on mice.
Baby Z was born with molybdenum cofactor deficiency type A, a metabolic disorder that there was no known treatment for. The rare disease kills about 100 babies each year.
The disease stops the body from expelling sulphide and causes babies to suffer seizures and progressive brain damage until they die, usually in early infancy.
But the parents of Baby Z and their friends refused to accept that the situation was hopeless and discovered a plant biologist in Germany had come up with a compound he thought could treat the disorder.
Even though Professor Gunther Schwarz's treatment had only been tested on mice, he couriered all the compound he had to Melbourne in the hope it could save Baby Z.
The baby's doctor, Alex Veldman, a neo-natal specialist at the Monash Medical Centre, says he was excited about the treatment but wary.
"This substance was never ever given to a human and it was years away from being a medication. How should we just take it from the bench to the bedside in a brief period of time?" he said.
Legal hurdles
But Dr Veldman and his colleagues first had to clear the experimental therapy with the Monash Medical Centre's bio-ethics board.
Then as Baby's Z's condition worsened by the hour, the hospital raised another legal hurdle.
"Chief legal officer of Southern Health said to me 'Alex, we need to know if the Australian public agrees that this experimental approach is in the genuine interest of this baby and the only person who can tell us that is the court, so we need to have a court order'," Dr Veldman said.
Finally after a nervous day's wait in June last year, the court gave the go-ahead and Dr Veldman and the hospital pharmacist sprang into action.
"He sprinted up the stairs with the substance in his hand and we started to treat the baby on that afternoon, actually about 40 minutes after we got the court order," Dr Veldman said.
"What then happened was really amazing, because the baby just was waking up, she was starting to move around, starting to look around, she was starting to drink milk from a bottle, she just improved massively."
Dr Veldman will present his findings to the United States Food and Drug Administration and European regulators next week.
The parents of Baby Z want to remain anonymous, but Dr Veldman says that although the 18-month-old girl has some problems she is doing well.
"She is such a delightful little lady and the parents love her and she has a very happy life," he said.
"The amazing thing is that I spoke to mum and she said that she never believed that her baby would die, she always knew that she would fight for it until we find something."
The discovery of the treatment has thrilled doctors specialising in metabolic diseases around the world and an international trial is now planned.
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