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Episode 51

Rachael Casella

In this week’s episode, I interview Rachael Casella. Rachael refers to herself as a Type A personality, so when thinking about trying to conceive, she spent six months preparing. She saw a Chinese herbalist and acupuncturist and also had her husband Johnny tested for fertility. Rachael started trying on her honeymoon and when she didn't fall pregnant in the first 2 months of trying she went and saw Genea in Sydney. She discovered that she ovulates on day 8 instead of day 14 of her cycle. With this info in hand, she fell pregnant the next month of trying.

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Despite having private health insurance, Rachael and her husband decided to use the midwifery lead care program through the Royal Hospital for Women in Sydney. At 39 weeks Rachael had a stretch and sweep however her cervix hadn’t dilated as yet. She began to experience reduced foetal movement at this time so her midwifery team decided it would be best to induce her at 40 weeks. After a difficult labour and 2 hours of pushing Mackenzie were delivered by caesarean section.

At 10 weeks of age, Rachael took Mackenzie to see a lactation consultant because she found Mackenzie was pulling off crying during feeds. The lactation consultant initially thought that Mackenzie she was a bit floppier than he should be for her age. Panicked Rachael rushed her to a doctor who said that she would need to go and see a paediatrician. They got to see a paediatrician in 2 days later. When seeing the paediatrician They were in the office with the paediatrician for about 4 minutes before he turned to them and said: “I think your baby has got Spinal Muscular Atrophy”. They had never heard of SMA before so they asked what the cure was and he said it was terminal. To hear the rest of Mackenzie’s journey please tune into this week’s show.

Additional Reading:

The Victorian Clinical Genetics Services Genetic Test called Prepair:

The Conversation: Explainer What is Pre-Pregnancy Carrier Screening.

The Conversation: What Prospective Parents Need to Know About Gene Tests such as Prepair

To see the ABC 730 report covering Mackenzie’s Mission: Part One and Part Two

Topics Discussed

Emergency caesarean after long labour spinal muscular atrophy

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