The family of a four-year-old with a rare and incurable genetic brain disorder have found themselves in a race against time to raise crucial funds for research to hopefully stop the progression of her illness.
Mandy and Jonathan Daddia, from Sydney, received the devastating news their middle child, Ruby, was living with beta-propeller protein-associated neuro degeneration (BPAN), a progressive disorder that damages the nervous system.
Without treatment, Ruby will develop Parkinson’s, dystonia, vision loss and Alzheimer’s by her late teens or early 20s, and lose all the skills she developed in her youth.
“It’s the worst prognosis you could possibly have in my opinion, I can’t really think of anything worse,” Mrs Daddia told Yahoo News Australia.
Thinking of the future and how Ruby’s suffering could grow worse as she aged was a daunting thought, the mother said.
“It will not be pretty. We know what her future could look like because we have become friends with other people whose children have BPAN, and we’ve seen what happens to the kids as they get older.
“Generally it’s a pretty quick regression. One of the mothers said there was literally no warning. Her daughter was walking up the stairs as she normally would and froze, like she completely forgot how to walk up stairs.
“She was never able to gain that skill again.”
But about 18 months after receiving the difficult news, Mr and Mrs Daddia encountered a beacon of hope that could hold the key for Ruby to avoid suffering the worst of the condition.
The Murdoch Children’s Research Institute have launched a research project to explore potential treatment options for people living with BPAN, a process Ruby and her family are taking part in themselves.
“They’re taking the skin cells from BPAN children and trialling all these different drugs on the cells and seeing if anything has a good impact,” Mrs Daddia said.
Despite her prognosis, Ruby is still a happy, smiley girl who unlike many others on the BPAN spectrum is capable of walking, her mum said.
“She is able to walk and loves to walk. She’s like a little Energiser bunny and loves to wander around and explore,” Mrs Daddia said.
“She’s a delightful, smiley and affectionate child. Wherever we go people are drawn to her, she lights up and room, and will often pick out her favourite person and be cuddling them all afternoon.”
Ruby has a seven-year-old sister named Amelia and a one-year-old brother named Jamie.
Mrs Daddia said Ruby and Jamie interacted beautifully together, but the little boy was all but clueless about what his sister’s future could look like.
‘Would have been a fun playmate’
She added Amelia often asked why her little sister couldn’t talk, so her parents had to explain Ruby’s disability and tried their best to manage expectations.
“It’s hard for her to not have a regular five-year-old sister because they’re quite close in age, and if Ruby had of been a typical child, she would have been a really fun playmate,” Mrs Daddia said.
The family launched a GoFundMe fundraiser to support the continuation of the second and third years of the research project.
“It is hoped that at the conclusion of this initial period, the advances made will allow for greater government support and support from the private sector,” the page reads.
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