‘$10 test may have saved Nate’
IF newborn screening was offered at birth, Nate Primmer would still be alive today.
At seven months, Nate lost the ability to sit up and move his head and he died before turning three but his death could have been prevented by a simple $10 test.
A lifesaving medication would have allowed Nate to lead a normal life but he did not receive it soon enough.
This was because Australia does not include genetic screening for Pompe disease in the regular heel prick blood test carried out on all children at birth.
“It’s life and death, quite literally,” Nate ’s mother, Jenna Primmer, said.
“The longer you wait, the more severe the damage and once it’s done, it’s done.
“The medication can’t reverse it, it can only stop it progressing.”
Pompe disease is an extremely rare inherited disorder caused by the build-up of a sugar in the body’s cells that causes muscle weakness, enlarged liver, heart problems and breathing difficulties.
Nate was almost a year old by the time he was diagnosed and his health had deteriorated so much, muscle weakness meant he was unable to prevent fluids going down the wrong way into his lungs.
When this happened while he was sleeping one night in 2017 it claimed his life.
In the US and elsewhere, children are diagnosed at birth and have almost instant access to a $25,000 per treatment lifesaving drug called Myozyme that stops the disease in its tracks. Nate’s mother is campaigning to have a test for Pompe disease and other rare conditions included in the