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'World first' as miracle drug saves life of baby

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Postby rath » Thu Nov 05, 2009 12:10 pm

05 Nov 2009.

'World first' as miracle drug saves life of baby with rare disease.

An Australian baby has become the first person to be cured of the rare and fatal brain-poisoning disorder molybdenum cofactor deficiency.


The breakthrough was due to an experimental treatment that had previously only been tested only on mice.

The infant, known as Baby Z, was born with a rare metabolic disorder called molybdenum cofactor deficiency, in which a build-up of toxic sulphite causes fits and brain damage, typically killing victims within a few months of birth.

The disease affects one in 500,000 to one in a million babies and usually results in brain degeneration and death in infancy.

However, Baby Z's parents refused to give up and pleaded doctors at Melbourne's Monash Children's facility to search for a cure.

The team of doctors scoured medical literature and found the experimental drug cPMP in a medical paper written by German professor Guenter Schwarz. Prof Schwartz had been working on the drug for 15 years but had only tested it on laboratory mice.

Once the drug was found, the doctors had to persuade the hospital's bioethics committee and the Family Court to let them use the drug on Baby Z.

They received Family Court approval at 3.30pm on June 6 2008 and by 5pm that day, Baby Z's treatment had began.

Within hours of receiving her first dose of the drug, Baby Z's sulphite levels plunged by more than two-thirds, and were at normal levels within about three days.

"A few days after starting the patient on cPMP, the baby's level of alertness improved significantly and the twitching and startling reactions decreased," said neo-natologist Alex Veldman.

"A (scan) performed three weeks after start of cPMP substitution showed a 90 percent reduction of seizure activity if compared to ... prior to treatment," he added.

The baby's neurological development is delayed due to brain damage suffered in the month before she received treatment, but her mother said she had now started speaking and was physically active.

Baby Z's mother said the ordeal was "the most difficult thing anyone could ever go through".

"It was the most challenging and most traumatic time of our lives," she said in a telephone link-up with reporters The woman, whose identity has not been released in order to preserve her family's privacy, said there was no doubt in her mind her baby should be the human guinea pig for the untested compound, which had been flown out to Australia from Germany packed in dry ice.

"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.

"We are looking at her now and she is just an absolute miracle - she has defied everybody," the mother said.

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.

Baby Z will require injections of cPMP every day for the rest of her life. The Melbourne doctors now hope to develop the drug for world-wide use.
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