For some families, the long wait for a diagnosis ends early — but that moment can be as confronting as it is clarifying. In Part 2, Clinical geneticist Dr Susan White explores what happens when a label finally arrives, and how parents and children learn to...
Each year, thousands of babies are born with congenital anomalies — structural or functional differences that can affect development. While modern medicine has advanced dramatically, many families still face the uncertainty of a child’s undiagnosed condition. In Part 1, Clinical geneticist Dr Susan White reflects on...
Families can wait years for a diagnosis of a rare genetic disorder, but a new test can provide answers in days for a better understanding of the condition and potentially earlier treatment, report David Stroud, Dr Daniella Hock and David Thorburn In its standard definition, the word...
A new study hopes to find out, reports researcher Dr Elena Schneider-Futschik, Medications for cystic fibrosis are currently only approved for children over two, but new research aims to guide the safe use of treatment during pregnancy and breastfeeding. Just five years ago, starting a family was...
Mother Emily Shepard leads the way for kids losing their sight and hearing to a little-known genetic condition with no cure. “Why would you want to know?” I’d asked our ophthalmologist when she thought my son, Louis, then three, might lose his sight. He’d been diagnosed with...
Prader Willi, Angelman and Dup15q syndromes leave a devastating effect on families. Early diagnosis for these disorders can now be tested through screening at birth. Research at a Glance: A Melbourne-led study has found a new test designed to simultaneously screen newborns for three rare genetic...
