554 | Ria regional midwife, two births, microcephaly, diagnostic journey, postpartum depression

Ria lives in regional Victoria with her husband Read and their two children – Olive, who is four and a half, and Jack, who is nearly two. As a midwife and educator who works with junior staff and students, Ria brought professional knowledge to her first pregnancy, but nothing could prepare her for the unexpected path ahead.

“I’m a fairly practical mindset,” Ria explains about her approach to pregnancy. After experiencing a miscarriage at eight weeks, she conceived Olive in December 2019, just before the pandemic changed everything. “2019 was that final year of freedom and then yeah, fell pregnant. And then it was the March, I think we announced our pregnancy in the March and then the lockdowns happened.”

Her pregnancy progressed normally, and she prepared for birth by watching online antenatal classes with her husband. “I wanted to stay home as long as possible,” she shares about her birth preferences. “So many women transition into the hospital setting too early… As much as we don’t want women on the clock, we obviously know that once they’re there, we’re observing them. And it can be so much harder for the body to fall into that rhythm of labour.”

After going to 42 weeks, Ria tried castor oil (which she doesn’t endorse) and went into labour that same day. Her labour progressed textbook-perfectly: “It just started nice and subtle. I could talk through them just that, you know, generalised tightening of the tummy and then probably over, I’d say it was six hours early labour, six hours active labour.”

She used a TENS machine, movement, and the shower for pain relief, declining a vaginal examination when she first arrived at hospital. “I just sort of didn’t want to know then too, because internally you’re thinking, am I four, five, six? Am I further along? I think I just operate better not knowing.”

When Olive was born, Ria noticed something different about her eyes: “I remember the moment she was born, looking at Olive, and I looked at her eyes, and I said, does she look okay? This was two minutes after she was born. I just had something come over me, and she probably did have almond-shaped eyes.”

The first few months seemed normal, but between eight and twelve weeks, things began to change. Olive started refusing the breast, losing weight, and becoming increasingly lethargic. “She just didn’t really seem that interested or that motivated to feed,” Ria recalls. Despite seeking help from maternal health nurses and GPs, the situation continued to deteriorate.

“I was going to see my maternal and child health nurse who was a midwife that I had worked with… she was fantastic. Like she supported us through it, but it was just this bizarre, like not really sure what’s going on. Is this just a feeding challenge for her? Should we bottle feed her?”

After months of struggle and weight loss, Ria reached breaking point: “I remember rolling into the GP after that holiday and just saying, I’m done. I don’t know. I don’t know how to keep doing this. It’s not sustainable anymore. I was just quite broken.”

They were admitted to hospital, where Olive was given a nasogastric tube. “She gained, like 900 grams in 24 hours from tube feed. So it was just confirmation of how malnourished really she was at that point. And once she started getting that volume in, you know, she started rolling over, smiling, had more energy.”

The medical team noted Olive’s small head circumference and closed anterior fontanelle, but initial genetic screening came back normal. It wasn’t until Olive was ten months old that they saw specialists at the Royal Children’s Hospital, where an MRI revealed abnormalities.

“The neurologist said really quite abruptly… ‘Olive’s MRI is not normal. Head is really small and her pons, which is at the base of the brain, is smaller. It’s meant to occupy sort of the full space and it was quite small, so you can see dead space around her pons. And he’s like, this is microcephaly, so cerebral hyperplasia with microcephaly.'”

After further genetic testing, when Olive was nearly 18 months old, they finally received a diagnosis: CASK-related disorder, an extremely rare genetic condition with only about 250 known cases worldwide at that time.

“There was one peer reviewed journal article on what CASK is that George [the geneticist] referred us to, but he said, I’m warning you, it’s really confronting read… it said, you know, children with only 25% of them will walk, you know, they don’t talk.”

Throughout this challenging journey, Ria’s mental health suffered significantly. She candidly shares a moment when she experienced suicidal thoughts: “I woke up one morning and I remember standing out looking at my backyard and I felt like I had… I’d never had this sensational feeling before, but I felt like I had a suicidal thought. Just this feeling of, yeah, I don’t want to do it anymore.”

This prompted her to seek help, starting on sertraline which made “immense change” to her mental health.

Today, Olive is thriving beyond expectations. “She’s smiley, bubbly, happy. Everyone that she sees comments on her nature and how much joy she brings. She’s just got this innate joy about her and she’s had that since since day dot, really.”

While Olive has intellectual and physical disabilities, she’s achieved remarkable milestones: “She probably started walking when she was two and a half. Now she sort of runs around. She’s got her own way of moving… she does everything fast and hard and she’s clumsy, but loves being clumsy, falls over and giggles.”

Ria beautifully captures the complex emotions of parenting a child with additional needs: “I have reached a point a little bit more of acceptance. You know, I went through the, why me? Why us? Why her? And you still do cycle through that, but then I wouldn’t change her. It’s such a dichotomy of emotions, but she is who she is.”

She shares a powerful message from their geneticist that has stayed with her: “The day we got Olive’s diagnosis, he was like, she has not changed. You know, she’s the girl that you conceived, the girl that you grew in your belly. It’s the same child.”

Ria’s story is a powerful reminder of maternal intuition, the importance of mental health support for parents navigating medical challenges, and the unexpected joy that can be found even when life takes an unexpected turn.