Zara’s journey with brittle bone disease

8 December 2022

Expected time to read: 3 minutes

Exciting research taking place at Kids Research could help change Zara’s future for the better.

When Zara broke her first bone at six weeks of age, her local GP put it down to bad luck. When she broke another bone a few months later, it was clear something wasn’t right. She was sent straight to The Children’s Hospital at Westmead for tests. 

X-rays and blood tests soon revealed Zara had Osteogenesis Imperfecta (OI), more commonly known as ‘brittle bone’ disease. OI is caused by a mutation of the gene which produces collagen, a protein vital for producing strong, healthy bones. The news came as a shock to her mum, Sophie.

“We had no family history of brittle bone disease, which I knew was one of the key risk factors,” Sophie says. “The unknown was the hardest part. There’s a huge range with OI, and we didn’t know where she fit on that. We didn’t know what the severity was.” 

While some forms of OI can be so severe and even life-threatening that a child can break a bone hugging someone, Zara’s condition is mild meaning her body does produce collagen but just not enough. 

Zara in hospital
Zara in a body and leg cast
Zara sitting on her mother's lap

Zara’s treatment involved monthly infusions to help strengthen her bones. That meant monthly trips from her home in Goulburn up to Westmead, a long five-hour round trip. Sophie says the medical team at the Hospital have been a critical source of strength throughout Zara’s journey with OI.

“We can’t speak highly enough of the care Zara has had and is still getting,” Sophie says. “Her whole team were there to support us from day one.” 

While treatment has helped Zara, now 15, learn to live with this condition, Sophie says the disease has impacted her daughter’s childhood. 

“I’d say she’s probably broken about 20 bones. She spent a lot of time during primary school in a wheelchair, and she now lives with rods in her legs and screws in her hips. She can’t really run well, can’t go on a trampoline and for a long time, she couldn’t even ride a bike. 

Zara in a wheelchair

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“She’s a really positive and resilient person, but I can see that gets her down sometimes.”

Sophie and her family are passionate about raising funds for Sydney Children’s Hospitals Foundation and now are sharing their story as part of the Light Up Xmas Appeal, to further their support of children affected by OI.

It’s thanks to the extraordinary generosity of our donors that Sydney Children’s Hospitals Foundation has been able to support game-changing research into OI.

Zara and her family

Led by the A/Prof. Aaron Schindler, Head of Bioengineering & Molecular Medicine Laboratory at Kids Research, this research is investigating how gene therapy can be used to potentially cure brittle bone disease.

“An easy was to understand brittle bone disease is to think about buildings,” A/Prof Schindler says.  

“They usually get their strength from both concrete and steel. People who have brittle bone disease can’t produce the protein that provides the steel. Current therapies like infusions only add more concrete to the walls. That helps, but without steel, the bones are always going to be brittle.” 

“Our research has found it’s possible to repair the gene mutation so the body can produce its own steel, collagen proteins. We’ve also developed vector technology which can be delivered directly to the bones and bone cells. A vector is basically a virus, but unlike viruses that make us sick, like COVID-19, vectors are genetically engineered to make us better.”

A/Prof Schindler says his team’s research has the potential to be life-changing for children like Zara, who live with brittle bone disease.

“What we’re working on has the potential to allow those children to live a completely normal life moving forward. We’ve done the research, and we know it works. We now need to translate it into clinical practice – and the sooner we can do that, the faster we can help these children."

“Achieving this though will only be possible with the generous ongoing investment from supporters of Sydney Children’s Hospitals Foundation and the wider community.”

To help support researchers like A/Prof. Schindler and kids like Zara, donate to the Light Up Xmas Appeal today. Together, we can help give sick kids, now and in the future, the brightest Christmas possible.

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