WA Rare Diseases Care Center: Sienna’s Ongoing Struggle
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WA Rare Diseases Care Center: Sienna’s Ongoing Struggle

Cassie Gordon said her second pregnancy from her daughter Sienna was “pretty ordinary”.

After the healthy delivery of her now 17-year-old son Mekhi Paterson, Cassie and their husband Jay thought the birth of their four-year-old Sienna would be the same.

“On my first scan, there was a little excess fluid, meaning there was a high risk that my baby would have Down syndrome, but the anatomical scan said she was a normal baby, so we thought so,” Cassie said.

WA Rare Disease Care Centre: Sienna's ongoing battle | PerthNow

“During birth, however, we noticed something was wrong.

“Her heart rate couldn’t handle the contractions, so I ended up having an emergency C-section, and as soon as I held her, she turned blue in my arms.”


Sienna was taken to a special nursery from Bunbury Regional Hospital, where she was born, to Perth Children’s Hospital.

Camera icon By the time she was only two months old, Sienna had already had multiple brain surgeries to relieve the fluid buildup in her brain. Credit: Included

From there, she underwent multiple tests and X-rays of her head and chest, resulting in a diagnosis of hydrocephalus, or water in the brain.

The Gordons had to quickly decide whether to have surgery to reduce the fluid pressure in Sienna’s brain, which might not have worked well, or to take her home.

“It was December, so we decided to take her home for Christmas so we could have some fond memories of her,” Cassie said.

“But by the time we had her next checkup, her head had grown two centimeters weekly, so we decided to have the surgery when Sienna was only a month old.

“After her surgery was successful, she had another one when she was two months old, and I remember the nurses in the ICU kept saying ‘schizencephaly’, so I asked the doctor what that was.

“He told us it was a rare brain abnormality, and they thought Sienna didn’t have long to live.”

Camera IconSienna with her older brother, Mekhi. Credit: Included

When she was less than a year senior, Sienna was diagnosed with schizencephaly or split-brain, meaning her brain hadn’t developed properly, resulting in large holes on both sides of her brain.

It affects 1.5 in every 100,000 live births.

Because Sienna was diagnosed at a young age, she had to undergo additional brain surgery to have a ventriculoperitoneal, or VP, shunt in her brain. Cassie said the shunt was a small device implanted in the brain’s ventricles to drain excess cerebrospinal fluid to the stomach.

“But if it deflates too quickly like it did in the beginning, Sienna can get a headache,” she said.

“So she had to have a programmable one that uses a magnetic device to change the settings from low to high pressure.

“It took a while to get the pressure right; she was so irritable and cried all the time during the first year of her life.

“But there’s still not much research into her disease, which is why a rare disease care center in Perth would be so helpful.”

Camera IconCassie said her daughter Sienna had proved the doctors wrong every step of the way with how much she has prospered despite living with her illness. Credit: Included

The Gordons, who lives in Bunbury, travel to Perth at least once a week for some of Sienna’s therapies.

Cassie said having a rare disease center in Perth would ensure support for the family, who originally had to do “a lot of research” into Sienna’s condition.

“I haven’t found anyone here in WA to connect with a child with schizencephaly, so if we had a center here, we would be able to communicate with people in similar situations instead of me having to go on Facebook to contact them myself.

“It would also be helpful if research alone helped to learn more about her condition.

“We have a very good place at the PCH, but the center would be somewhere to get support and understanding.

“And it will help Sienna, who is doing very well today. She is so sassy with so much attitude; she uses her eyes and facial expressions to communicate with us.

“She’s just amazing and continues to prove her doctors wrong every step of the way.”

To help children like Sienna and make the Perth Children’s Hospital Rare Care Center a reality, you can donate at pchf.org.au/appeal.