Every year in Australia, up to 50 babies are born with an incurable inherited neurological condition called spinal muscular atrophy (SMA).
Anywhere up to 20 of these infants will unfortunately lose their fight to live.
This shatters families.
As a community and a nation, there is still a lot to do to raise awareness about this and other inherited genetic conditions.
In the majority of cases, parents of babies born with SMA have no family history of genetic conditions and follow advice during pregnancy to have a healthy child.
They are unlikely to have heard of SMA and are not aware that they are genetic carriers for the condition.
As ‘carriers’, the couple do not have the condition themselves, but have an increased chance of having a child with SMA.
SMA is one of the three most common genetic conditions in the Australian population that peak Australian medical bodies recommend parents should be screened for prior to or early in pregnancy.
The other two are fragile X syndrome (FXS) and cystic fibrosis (CF).
Screening for these three conditions is often combined into a single carrier screening test.
It is advisable that a couple considering having a baby discuss the benefits of this screening with their doctor.
The government has recently announced that genetic carrier screening for these three conditions, currently available as a privately paid test, will in the near future be listed on the Medicare Benefits Schedule, allowing them to be bulk billed.
Speak to your doctor to find out more.
