‘They thought it was conjunctivitis but it was something far worse’

Sophia had a Germ Cell Yolk Sac tumour in the sinonasal region of the left-hand side of her face.

When baby Sophia’s eye started to protrude a little, Mona Vale mum Liz, 28, was understandably concerned - but things were about to get a whole lot worse.

“She’d had a few of the regular illnesses from daycare, and was growing very lethargic too,” Liz told Kidspot exclusively.

“I went to the doctor multiple times and was told it was conjunctivitis.”

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Sophia had a Germ Cell Yolk Sac tumour in the sinonasal region of the left-hand side of her face. Image: Supplied

A wrong diagnosis was just the beginning

Liz almost shed tears of relief, because conjunctivitis, they could deal with. But things didn’t improve. Not long after, Liz bundled up Sophia and took her to emergency. After a five-and-a-half-hour wait, she was told to keep Sophia’s fluids up, and she’d be fine.

“There was no way I was taking her home,” says Liz.

“Her face was starting to look dramatically different, and her eye was really bulging.”

Eventually Liz was told they could stay the night in paediatrics.

“That was only because I was stressed, the doctors weren’t really concerned. They put a drip in her arm to give her fluids, but then we saw a doctor, and he examined her eye. That’s when everything changed, he could see her eye wasn’t dilating,” Liz explains.

Sophia was scheduled for an MRI the following morning. The 30-minute scan took an hour-and-a-half.

“That was definitely a red flag, we knew then things weren’t good,” says Liz.

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Doctors thought Sophia had conjunctivitis. Image: Supplied

Parents fearing the worst

It was during COVID, and with strict no visit rules, when doctors told Liz’s husband Pat he could join her at the hospital, Liz feared the worst.

“The nurses could not look at me, it was so obvious, they couldn’t tell me anything as the official reports hadn’t come in,” she says.

Doctors told the shocked couple that they’d found a huge mass behind Sophia’s eye. They asked Liz if she wanted to see the MRI.

“I said no, but then I thought I had to – it was a turning point for me, I realised we had a real battle ahead,” she says. 

The MRI showed what looked like a huge spiderweb, over the left-hand side of Sophia’s face. “Looking at my beautiful baby and seeing this horrible insidious thing inside her face was awful,” Liz commented.

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Too many treatments and hospital visits for such a little soul. Image: Supplied

The diagnosis no one wanted

It took a week to pin down a diagnosis, seven days that Liz describes as the worst days of their lives.

“Sophia had to endure numerous surgeries. It was a very scary time for us,” she says.

“We tried hard to make the hospital a happy place for her, and in a way, it was Sophia that distracted us from the reality of the situation.”

Sophia had a Germ Cell Yolk Sac tumour in the sinonasal region of the left-hand side of her face. It was explained to Liz and Pat that normally this type of cancer is in the reproductive organs, and outside that region, it’s extremely rare.

The day before the diagnosis, Liz discovered she was pregnant with their second child.

“I had to really put those first few months of the pregnancy on the backburner and focus on Sophia,” notes Liz.

Beautiful little Sophia had to endure four rounds of chemotherapy over six months, she suffered severe nausea and frightening night terrors.

Sophia’s tumour marker test, Alpha Fetoprotein (AFP) showed at diagnosis she was 3,700. A normal reading is 0 to 6. Thankfully her markers kept reducing every month, so the family knew the treatment was working.

As a result of the tumour, Sophia’s optic nerve was crushed and she has lost the sight in her left eye. There is also a 30 per cent chance that the cancer could reoccur.

Sophia has lost vision in her eye but her family is thankful for every happy day they have with her. Images: Supplied

RELATED: Tumours are growing throughout my toddler’s perfect little body

Day-to-day worries just don’t really matter

Despite the family’s ordeal, Liz found solace in the oncology unit.

“It’s an incredible place. You realise what matters in life when you walk through those doors. When you have a very sick child, day-to-day worries just don’t really matter,” she says.

With one baby on the way, and another who was very unwell, the couple reached out for help.

“We did have incredible support from friends and family,” says Liz.

When Hamish was born, the family endured another blow – his heart pressed on his trachea, causing breathing difficulties. “After many visits to GP’s we found out he had a condition called Tracheomalacia. The good news is this will improve over time.

“He just needs to grow into himself a little bit more,” says Liz.

“People always say Sophia is a strong little girl who beat cancer, they say things like, wow it’s amazing you guys did that, and of course we couldn’t be prouder of her,” says Liz.

“But the point is a child’s survival isn’t based their strength or support, it’s all about research, that’s a huge factor.”

Every month Sophia has a follow-up to keep on top of any changes.

“It’s a traumatic experience for her, but when we get the results it’s a relief. Every month that passes, her chance of relapsing grows smaller and smaller with her type of cancer,” explains Liz.

Now that the family is through the most challenging part of their journey, Liz can breathe a welcome sigh of relief.

“I’m loving being a mum – it really is so much fun, life is busy at our place, but I feel like we have just hit the sweet spot, it’s starting to become easier,” she says.

Sophia is the face of Australian Cancer Research Foundation's March Appeal, which supports brilliant cancer research projects like the ACRF International Centre for the Proteome of Human Cancer (ProCan). Donate today to help make a life-saving difference to children like Sophia and their families. 

Originally published as ‘They thought it was conjunctivitis but it was something far worse’