An Australian couple is still reeling from the devastating news that their 12-week-old daughter has spinal muscular atrophy (SMA) type 1. SMA is a rare genetic disease that until Mackenzie’s diagnosis, her parents had never heard of.
According to a report in the Courier Mail, Mackenzie’s parents now want to put their family’s situation to good use and help raise awareness of SMA. They’re also hoping to put pressure on the Australian government to implement routine screening for carriers, as well as both fetal and newborn screenings for the disease.
A simple blood test can detect whether a person is a carrier of the disease, which would help couples make informed decisions about starting a family. Screening fetuses and newborns would mean an earlier diagnosis which would be helpful if parents wish to start their child on a medication like nusinersen (Spinraza).
Nusinersen has yet to be approved in Australia for general use for SMA patients, so parents would need to pay for the treatment themselves. The cost is currently $750,000 for the first injection and then $350,000 per year for each additional annual injection.
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