Couple Uses Daughter’s Plight to Raise Awareness of SMA Screening

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.

MORE: Detecting SMA with carrier screening.

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.

MORE: Australian baby becomes the ninth SMA patient to take advantage of the Extended Access Program for Spinraza.

SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Leave a Comment

Your email address will not be published. Required fields are marked *