Skip to main content

Miracle Aussie baby beats rare condition in world first

Thursday, November 05, 2009 MELBOURNE: A "miracle" Australian baby has become the first person cured of a rare and deadly brain-melting condition after doctors gambled on an experimental drug tested only on mice, they said on Thursday.The child, known only as "Baby Z", was facing a painful death of seizures and brain damage from molybdenum cofactor deficiency, a genetic defect which causes a build-up of toxic sulphite and usually kills in months.But she made an amazing recovery just three days after first being given the untested treatment which was flown in from Germany and rushed through the courts."We are looking at her now and she is just an absolute miracle -- she has defied everybody," her mother, who cannot be named for legal reasons, told reporters.Baby Z started having seizures within 60 hours of her birth in May 2008, prompting her family to appeal to biochemist Rob Gianello to help beat the previously incurable condition which affects just one in a million Australians."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."Baby Z's doctor Alex Veldman said Gianello discovered an experimental drug which had been successfully used on mice by Germany's 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.Within hours of receiving her first dose of the drug, cyclic pyranopterin monophosphate (cPMP), Baby Z's sulphite levels plunged by more than two-thirds and were at normal levels within about three days.Veldman said Baby Z's alertness improved and her twitching slowed rapidly, with her seizures dropping by 90 percent in three weeks."The response was just amazing," he said."We can treat this in humans for the first time in (the history of) mankind. It has the potential to save lives all around the world."Baby Z's development has been slowed by the brain damage she suffered before the treatment, and Veldman said she would need a cPMP injection every day for the rest of her life.But her mother said the baby, now 18 months old, had started speaking and was physically active."Every day just gets better and better. We look at her every day and just think, 'Wow'," she said. "(The procedure) was a tiny bit of hope but, when you have nothing, that is a lot of hope."Veldman said a second child, "Baby P", had since started cPMP treatment in Germany and was "improving rapidly".The cases were now being analysed ahead of a planned international human trial of the medication at Melbourne's Monash Medical Centre, he said.

Comments

Popular posts from this blog

US troops in Iraq head to Afghanistan

BAGHDAD: Nearly 500 U.S. Army combat engineers who specialize in clearing roads of explosives started shifting to southern Afghanistan."We are probably going to be the beginning of the influx you are going to see to Afghanistan," Lt. Col. Kevin Landers, commander of the Fort Carson, Colo.-based 4th Engineer Battalion, said as crews packed crates and cleaned vehicles for the flight to Kandahar.Obama has ordered 17,000 more U.S. soldiers and Marines to Afghanistan to bolster the 38,000 American troops already battling the resurgent Taliban."We are going to take this footprint out of Iraq," said Landers, whose battalion received word of its reassignment last month just after taking command of clearing roads in Baghdad of bombs and debris.

Berlin Celebrates the Day the Wall Fell

Tuesday, November 10, 2009 BERLIN: World leaders and partying Germans are descending on Berlin Nov. 9 to mark the 20th anniversary of the day the Berlin Wall was breachedIt is a day for celebrations and commemorations, for festivities and sober reflection. Berlin is marking 20 years since the fall of the Wall on Monday with a series of events, big and small. Leaders from around the world are descending on the German capital to help celebrate the momentous events of Nov. 9, 1989, a date that has come to symbolize the end of communism in Eastern Europe. The main focus of events will be the historic Brandenburg Gate, where 20 years ago, joyful East and West Berliners gathered together to dance on top of the wall and celebrate the sudden opening up of the Iron Curtain. The iconic gateway had once stood in the midst of no man's land, surrounded by barbed wire and machine guns. Now 20 years on, a concert and fireworks display will recall those heady moments. A line of 1,000 foam dominoe...

Pakistan to play SAfrica in Twenty20 semi-final

Wednesday, June 17, 2009, NOTTINGHAM: An intriguing battle is on the cards when favourites South Africa clash with buoyant Pakistan in the semi-final of the World Twenty20 here on Thursday. Geo Super will telecast the action live from the ground at 2230 PST.The South Africans have showed their all-round prowess during an unbeaten run in the tournament, including emphatic wins in all three Super Eight games against the West Indies, England and defending champions India. The latest success came at Trent Bridge on Tuesday when the Proteas fought back after being restricted to a modest 130-5 on a slow wicket to keep off-colour India down to 118-8. Pakistan bounced back after losing their first Super Eights game to Sri Lanka to defeat New Zealand by six wickets before ensuring their place in the semi-final by packing off minnows Ireland by 38 runs. In the preliminary round, the enigmatic Pakistanis had shown a similar never-say-die attitude by thrashing England-conquerors Netherlands by 82...