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Australian Birth Stories

443 | Rachael, spinal muscular atrophy, TFMR, genetic carrier screening, IVF, NIPT, CVS, maternal-assisted caesarean

58 min • 10 december 2023

You can listen to Rachel share her first birth and postpartum story in episode #51 where she details her daughter Mackenzie’s terminal diagnosis of spinal muscular atrophy (SMA). Today she talks about Mackenzie’s Mission and the genetic carrier screening that’s now covered under Medicare for all couples planning a pregnancy. If you are planning to conceive soon, I highly recommend listening to Rachael’s story and request the screening via your GP or Lumi Health. She also talks about her journey to conceiving her two boys, her decision to have an empowering maternal assisted caesarean and the grief and joy, anxiety and hope, love and gratitude of motherhood. Rachael is an incredible woman with a big heart. Her greatest hope is that we are all aware of genetic carrier screening so she has one request: tell everyone about it! 

Follow us on Instagram at @australianbirthstories for helpful articles, behind the scenes, and future episodes.

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