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Olivia's Story

We believe that every child deserves the opportunity to live a healthy and fulfilled life. Our researchers work determinedly with this vision  in mind to transform children’s lives for the better. We look down microscopes, examine genes, and study thousands of people to understand why disease happens and how we can cure or prevent the biggest health conditions facing children today.

But sadly, childhood illness is often incredibly sudden. It comes out of the blue. And the answers are not always immediate. Sometimes, even doctors don’t know what is wrong and a child and their family can find themselves on an emotional rollercoaster of invasive testing, scans, operations, ultrasounds and examinations, with little or no success.

Can you imagine what it would be like if your child was sick – but no one knew why?

Unfortunately, this was the case for Olivia, now aged five, and her family.

“The hardest thing as a parent is knowing something is wrong with your child, but you can’t do anything about it,” says Olivia’s devoted mother, Kate. “No one could reassure us that Olivia would be ok.”

From day one, Olivia was a charming baby with an infectious smile, her mother Kate recalls. “Olivia was an angel,” Kate says. “She hardly cried. She would give you the most beautiful smiles. She was always happy to see people.”

But everything changed when she had her first bath and the nurse washing her noticed she was turning blue. In response, doctors called for tests which detected an odd heart murmur. Kate was told this could be a sign of an underlying genetic condition. As time went on, Olivia was not meeting developmental milestones and her behaviour was very different to her peers, Kate recalls. “As star-struck loving parents, we couldn’t deny our sweet Olivia was being held back by something,” she says.

The journey ahead was long. Olivia and her family visited dozens of specialists sometimes three or four in a day to try and get to the bottom of what was holding Olivia back.

“There was so much uncertainty and the emotional rollercoaster of new possible diagnoses was intense, as we grieved and then tried to come to terms with things only to have that overturned when she again was given the all clear for all the known possible conditions,” Kate says.

When she was nearly one-year-old, Olivia was referred to the Murdoch Children’s Research Institute and in the next 12 months she started seeing an MCRI clinical geneticist to try and find what was wrong.

“At that time, all our dreams of having a large family were not just on hold, but crumbled into the dust as we were told our odds of a risk of recurrence in future pregnancies could have been as high as 25% per cent,” says Kate. “We needed a diagnosis to be able to test our DNA – to check if the condition she had was unique to her, or if we were carriers of the condition too.” Kate says the family felt completely in the dark.

It was thanks to MCRI genetic testing that Olivia was finally diagnosed with Kleefstra Syndrome – a genetic disease so rare that she is actually one in 23 million.

“It was like finding a stray apostrophe in a dictionary and it changed our world,” says Kate.

Having a diagnosis meant that Olivia’s family were more informed about Kleefstra Syndrome and its effects. “Our day to day lives have now radically changed. We’ve been able to get funding for a wheelchair and a special needs bed, a disabled sticker for the car, and we are able to plan better for her future. Olivia has moved to a specialist school, which is changing her immediate future for the better.”

Having an answer was life-changing for Olivia. She has a better quality of life and her parents were able to grow their family. With MCRI’s help, Kate and her husband were overjoyed to be able to have a healthy baby boy, William, who is now one-year-old. He doesn’t have the gene change that his sister has - and Olivia adores her little brother.

It was thanks to genetic testing carried out at MCRI that Olivia and her family received the answers they so desperately needed. And it’s thanks to generous donors like you that our researchers can carry out this very important work.

We want to thank you for your continuing support of our research institute. But we still need your help, more than ever.

At MCRI, we want children like Olivia, who need a diagnosis for a rare condition, to receive testing quickly and cost-effectively. To that end, our Institute is leading the way to make this possible for children everywhere.

You can help change lives of children just like Olivia’s by making a donation to our Christmas appeal today.

Together, we can give children with rare genetic conditions the answers they deserve, so they have the opportunity to live a healthy and fulfilled life.

On behalf of our researchers and the children we care for, I would like to thank you for your generosity and for joining us on our journey to champion child health.

Click here to make a donation today.