A 'Spelling Mistake' Could Cost Little Ruby Her Life, But There Might Be A Cure
Mandy Daddia was told to stop worrying, to "go home and enjoy your lovely baby" - but she knew there was something very wrong with her daughter Ruby.
Now, just shy of her fourth birthday, Ruby is completely unique. She is bright and alert and gorgeous.
And she is the only child in Sydney to be diagnosed with BPAN - an incurable brain disorder (beta-propeller protein-associated neurodegeneration).
"It was surreal. I still think it’s the worst news you could possibly get," Daddia told 10 daily.
Daddia said she thought something was not right about Ruby's development when her daughter was only a few months old.
We noticed that she wasn’t doing the things that her bigger sister had been doing at that time.
"She wasn’t sitting up, she wasn’t pointing or anything like that."
She said she took Ruby to multiple doctors, who insisted she was "normal" and "fine." But her maternal instinct was deafening.
Done with being told there was nothing to worry about, Daddia said she got the answer she desperately needed by asking one question.
"I said 'okay, if you were worried, what would you do?'"
The answer was a developmental assessment.
From there Daddia said she finally found out the truth. Ruby was diagnosed with BPAN at age three.
BPAN is a brain disorder that damages the nervous system. Those with the condition suffer recurrent seizures, and their health deteriorates rapidly as they grow older.
The Daddia's describe BPAN as a 'spelling mistake' in the makeup of Ruby's WDR45 gene - meaning that a mutation located on the X chromosome causes the neurodegeneration.
When Daddia and Ruby's dad Jonathan were told the devastating news, Daddia was pregnant with their third child.
There was such lows and such highs. Because having a healthy, beautiful baby couldn’t be more of a high. But there were obviously some really bad times.
Ruby's life is often filled with seizures and medical appointments.
"Ruby is not at the developmental stage where we’d need to explain it to her, which I guess is a blessing in a way. But her older sister, we’ve not told her the prognosis because how do you tell a seven-year-old that?"
Daddia describes thinking about the future as "terrifying," especially after witnessing the gut-wrenching experiences of other BPAN sufferers and their families.
But she said she is determined to give Ruby and her siblings Amelia and Jamie the best life they can.
We don’t to want it to change how we treat Ruby or think of Ruby's future.
"We don’t think about that too much. We just think of the day to day and how can we can make sure that Ruby is getting the most out of her days."
Children with BPAN have a developmental disability, and in their adolescence often begin to gradually lose intellectual functioning and reasoning abilities, like dementia.
There are only 12 children in Australia diagnosed with the disorder.
As it stands, BPAN is incurable. However groundbreaking Australian research has given Ruby's family a new, extremely promising hope.
Melbourne's Murdoch Children's Research Institute is launching a pioneering project with the aim of curing BPAN. And Daddia said she couldn't be more thrilled.
"The whole aim of the research is for a cure," she said.
This is specifically looking at what can treat this and how can we cure this.
The research has given new hope to families. Of the small number of Australian children with BPAN, Daddia said that almost all of them have donated skin or blood samples to the project.
"It sounds like they could possibly find something," Daddia said.
It's this glimmering promise that spun Daddia into action, starting a GoFundMe page to gather donations for the project she hopes will cure her daughter.
Initially, the goal was $15,000. But generous donators knocked that out of the park in a matter of days. Now the fundraiser is $10,000 off its $50,000 goal.
"I can't believe it. It’s been amazing," Daddia said.
"The outpouring of support and the messages and the people getting in touch with how they can help ... It’s been really heartwarming!"
This Christmas, Ruby and the kids like her are asking for something very special under the tree - hope.
You can donate to the new BPAN research project by following the link to Go Fund Me.
Featured Image: Supplied