An infant born with a rare and fatal brain disorder has been cured by a drug that had only previously been tested on mice.
A team of doctors at Melbourne's Monash Children's facility needed the hospital's bioethics committee and the Family Court on side before the drug could be used on Baby Z in a last ditch effort to save her life.
She was born with a metabolic disorder, which affects about one in 500,000 to one in a million babies, and usually results in brain degeneration and death in infancy.
Doctors scoured medical literature looking for a "miracle" and found it in a medical paper written by German professor Guenter Schwarz who had been working on experimental drug cPMP for 15 years and had only tested it on laboratory mice in Germany.
After a normal delivery on May 1, 2008, Baby Z started having seizures about 60 hours after birth and when she was diagnosed doctors had little hope of her survival.
But her parents refused to let their new daughter die without a fight and encouraged doctors to look for a cure.
They received Family Court approval at 3.30pm on June 6 last year and by 5pm that day, Baby Z's treatment began.
"It was the most difficult thing anyone could ever go through," Baby Z's mother said in a telephone link-up with reporters on Thursday.
"It was the most challenging and most traumatic time of our lives."
The Melbourne mum said there was no doubt in her mind her baby should be the human guinea pig for the untried compound which had been flown out in dry ice from Germany.
"There was courage and there was death - we opted for courage," the mother said.
"If she wasn't treated she would die a very painful death."
She admitted that when neonatal paediatrician Dr Alex Veldman told her that after the injection, Baby Z's toxicity in her brain had plunged she refused to believe it at first thinking there might be an error in the lab.
The following day, tests of the baby's urine showed the toxicity had dropped even further and was getting to somewhere around normal and she began to believe her child would survive.
"We are looking at her now and she is just an absolute miracle - she has defied everybody," the mother said.
Dr Veldman said Baby Z will need to inject a dose of cPMP every day for the rest of her life.
He and a specialist team of doctors are heading to the United States this week for discussions with the Food and Drug Administration (FDA) to develop treatment for world-wide use and a planned global trial on the new therapy.
He wants the drug to be available as soon as possible in pharmacies around the world - all thanks to Baby Z and her determined parents.
Front page
RSS Feed