Posted by Michael Wonder on 09 Jul 2016
Drug that cures rare disease hereditary tyrosinaemia type 1 gets approval on Life Saving Drugs Program
9 July 2016 - Six weeks after the birth of their daughter Jeanette in 2001, Melbourne couple Faye and Youssef Azer knew their baby was seriously ill.
She had severe jaundice, a bloated stomach and her vomit contained traces of blood. The last three weeks of Jeanette’s life were spent in hospital, as doctors frantically tried to diagnose her condition.
She died at nine weeks old and her parents had no idea why.
It wasn’t until six weeks later, when the results of her autopsy were released, that Faye and Youssef discovered their daughter was born with an extremely rare, life threatening condition called hereditary tyrosinaemia type 1 (HT-1).
There’s a one in 100,000 chance a baby will be born with HT-1 and there less than 20 cases in Australia.
