Research Paper Saves Baby's Life

Molybdenum cofactor deficiency is a genetic condition which can retard brain development, or kill within months of birth. Only 100 people have ever been diagnosed with it. It had never been cured - until now.

News.com.au reports:

Soon after she was born in 2008, Baby Z's toxic sulphite levels were almost 30 times higher than normal and were dissolving her brain. After three weeks looking for answers, biochemist Dr Rob Gianello found a research paper by German plant biologist Prof Gunther Schwarz describing how he had developed an experimental drug that was able to save mice with the disease in 2004. The drug had hardly been used in animals and nobody had more than an educated guess at what it would do in a human.

But Monash's Dr Alex Veldman contacted Prof Schwarz in Cologne and appealed to the hospital's ethics committee to use the drug on Baby Z. The long shot was backed because the only other option was a painful death.

Within hours of receiving her first daily dose of cPMP (cyclic pyranopterin monophosphate), tests showed Baby Z's sulphite levels immediately dropped from near 300 to below 100. Within three days they fell to the normal level of about 10. Baby Z's neurological development is delayed due to some brain damage in the weeks it took to find the cure, but she is now [at 18 months of age] improving.

Praise God, and humanity's thanks go to Drs. Schwarz, Gianello, and Veldman for their intrepidity.