‘We don’t know how long we have left’: Sydney couple’s race to find a cure for their toddler daughter

Domenico and Sara Ruggeri are in a desperate race to save their daughter’s life. All the Sydney parents need to do is to fund the urgent development of a cure for her ultra-rare condition. The problem is they need up to $8 million to do it.

At 11 months of age, Valentina, now two, was diagnosed with Hyaline Fibromatosis Syndrome, a genetic condition that causes an excess grown of hyaline, a type of cartilage that already exists in the human body.

“The investigation started when she was four months [old],” Sara told nine.com.au.

“Trying to find the gene was next to impossible because of the types of gene variant she has. They have never seen [it] before, so no matter the testing we did we weren’t finding anything between Dom and I, and between her genes, and so they basically found a needle in a haystack.”

There are approximately 10 people in the world with this condition, and Valentina is the only Australian diagnosed with it.

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The couple have placed their hopes in the hands of Professor Leszek Lisowski, a world vectorology expert they met at a Gene for Genes event. Professor Lisowski is hard at work at the Children’s Medical Research Institute, supported by the money raised so far, which is approximately $1.5m.

“No pharmaceutical company is going to take on developing a drug for one person. So that’s why we have to do it privately, and why it’s so expensive,” Sara explained.

When the couple were told there was “nothing that can be done” for their daughter, they refused to accept it.

“We’re taking that on head-first,” she said.

Valentina lives in “severe pain”, her mum said. It’s only when her morning medication – including multiple separate medications for pain relief and to help delay her condition from progressing – kicks in that Sara sees that first smile each day.

“She’s got up to 10 appointments a week between physio five times a week, occupational hand therapy, hospital appointments,” Sara explained.

“We see 22 specialists in her care team. It’s an unbelievable amount. As you can imagine, we just live a life going to appointments.”

Valentina also struggles to move due to locked joints.

“She can’t crawl, she can’t walk by herself. She’s got overgrown gums, which we’ve just had removed, so we finally saw her teeth. We’ve never seen her teeth before.“

The gum condition meant she was unable to eat solid food. Now they have been removed, Valentina is finally able to expand her diet.

“Eating’s been a massive one for us. She hasn’t been able to eat a lot from birth, she has failure to thrive, which is part of the condition as well. So she doesn’t eat a lot. She’s very, very underweight,” Sara said.

“She’s had this new lease on life with the food she’s been able to eat since she’s had teeth. She’s actually starting to enjoy food again.”

Valentina also has lumps growing out of her head due to her condition. But the real danger is if this build-up happens inside her gut, which would be lethal, and it is a race against the clock to prevent this from happening.

“I think we’re just in this fight-or-flight mode all the time, where we’re just living and fighting to save our daughter,” Sara said.

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“When they tell you they can’t do anything and to just watch your daughter die, that’s not something we were going to ever accept, and it shouldn’t be something that other people have to accept.

“We can at least try. This might not work, of course. Nothing’s set in stone but at least we’re trying, and we know we’re doing everything we can.”

Once the treatment is developed, it can be administered to Valentina via an injection, which will hopefully stop the hyaline growth in its tracks.

The family has recently returned from a family trip, where they focused on making memories with their daughter.

“We make all of our memories in hospital, and we also just don’t spend a lot of time together,” Sara said.

“And the sad reality is we don’t know how long we have left with our daughter. So if we just sit here and make memories in hospital, then we’ve done nothing to give her a good life, if it is to end earlier than it should.

“We must give her and ourselves a life with her while we can.”

You can follow Domenico and Sara’s fundraising efforts via their registered charity Valentina’s Village.