Adding SMA to the Newborn Bloodspot Screening in Australia
How you can help get children born with SMA treatment that could change their lives:
In Australia all babies are offered a newborn bloodspot screening (NBS) test. The NBS tests for rare genetic conditions and metabolic disorders, which are serious medical conditions, such as phenylketonuria and cystic fibrosis. Detecting these conditions early means that the child can commence care and available treatment for their condition as soon as possible. This will often be lifesaving.
One condition that is not on the NBS is Spinal Muscular Atrophy (SMA). SMA is the number one genetic killer in babies under two and is what our daughter Mackenzie died from, along with other beautiful babies. It affects approximately 1 in 10,000 births and is usually diagnosed before 6 months of age; in the most common form a baby will die before their first birthday.
SMA is a neuromuscular disorder, similar in its effect to motor neuron disease in adults, which results in the loss of motor neurons – the nerves in the brain stem and spinal cord that control muscle activity such as breathing, swallowing, speaking and movement. Deterioration of motor neurons causes muscles to weaken and waste away leading to atrophy.
The first areas to be affected are the muscles closest to the trunk, the upper arms, shoulders, hips, back and upper legs. Those affected become trapped inside their bodies unable to move. Eventually, the affected child (often babies) struggle to swallow making eating difficult. They cannot cough and move mucus from their respiratory system which means even a simple cold is a serious illness, often requiring hospitalisation. Eventually the child loses the ability to breath on their own. It is a devastating disorder for both the child, who suffers from it, and for the families and the medical staff who care for the child.
This condition should be on the NBS.
I have prepared this document to provide an argument for SMA to be put on the NBS. Adding SMA to the NBS programme as a national initiative will give all Australian families who are, or may be, affected by SMA the equal opportunity to obtain information and access available treatments in a timely way no matter where in Australia they live. These treatments can be the difference between life in a wheelchair or life walking, or even the difference between life and death.
Please print off or email the document attached to this page and send it to your Member of Parliament and/or State/Territory Health Minister to show your support for SMA being placed on the NBS. To help I have also attached a list of all of the states and territories health Ministers and a quick Google search will be able to tell you who your MP is and their contact details.
Lets shout it loud so they can’t ignore us.