Lucia's Story

31 May 2021

From disbelief to determination

When Karla and Johann were expecting their first baby and went for the 18-week scan, they were told their unborn child had a thick nuchal fold: a sign of possible abnormality.

So, when beautiful Lucia was born at 41 weeks, and seemed perfectly healthy, it was a huge relief to take her home.

But very soon the first-time parents’ joy turned to worry, as it was clear something just wasn’t right. Lucia had a high-pitched squeal, struggled to feed and would tire easily.

Then at just 18 days old, Lucia started having strange movements in her arm and leg. Karla and Johann rushed their baby to the Emergency Department at Sydney Children’s Hospital, Randwick, where they showed the doctor a video of Lucia’s funny movements.

“Straightway he said: ‘Lucia’s having seizures. We didn’t leave the hospital for six weeks,” recalls Karla.

The neurology team left no stone unturned to find the cause of the seizures, but it remained a mystery month-after-month. “They’d try a medication, and it would stop Lucia’s seizures, but then they’d come back, and we’d be straight into hospital,” Karla recalls.

Despite this tireless effort, when Lucia’s first birthday arrived, her seizures were still just as bad, and she wasn’t meeting milestones. It was very distressing for Karla and Johann. But a turning point came when Lucia’s neurologists arranged specialised genetic testing.

Soon after, Karla and Johann received news that brought relief - but also grief: Lucia had an extremely rare genetic mutation that affected her WWOX gene and there was no known cure.

“Our whole world imploded,” says Karla. “We discovered there are only 72 known cases in the world, and the prognosis isn’t good.”

Karla says they were “scared and in denial”. “We were just hoping there was some mistake with the test results, but unfortunately it just wasn’t the case. We went and told our families and just cried and couldn’t stop.”

Lucia is now three and the future is uncertain. She still endures up to six seizures a day and cannot walk, talk, sit or hold her head up on her own. She is vulnerable to infections and has had numerous hospital admissions for different bugs.  

Despite medical advances, many kids like Lucia rely on Sydney Children’s Hospitals Network for conditions so rare and baffling where cures are not yet available - but the dedicated team of clinicians never give up.  

And it’s thanks to the world-class care you make possible that they can access the most promising new treatments and support services.  

Families like Lucia’s also get to experience regular respite from the intense round-the-clock care by relying on the supportive team at Bear Cottage. “Just spending a few days at Bear Cottage, you feel refreshed, alive again and that little bit normal,” says Karla. 

As the only children’s hospice in NSW, Bear Cottage, that is fully funded by generous donors like you, offers families a home-away-from-home experience that the whole family can enjoy, while ensuring their children still receive the best medical care possible. For Karla and Johann, Bear Cottage enabled them to feel like they were on a holiday. 

“As a family unit we became closer and formed a stronger bond. We could do things we couldn’t normally do – even just short walks to the beach were fantastic. One of our first memories when arriving for our initial visit was seeing a teddy bear with Lucia’s name in her cot – instantly we felt a beautiful connection to Bear Cottage.” 

Today, Karla and Johann are inspired by Lucia’s resilience and beautiful spirit and are determined to stay positive. “Life with Lucia has been a blessing and we love her to bits,” says Karla.  

Lucia loves going for walks and to the park and despite all her challenges, is a happy little girl.  

Lucia’s future may be uncertain so we don’t like to think too much about the future, we just live for today and enjoy every moment with our little girl while she is here.”  

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