Family hopes for breakthrough
On the surface Ruby is just like any other four-year-old. She is a happy, smiley girl who loves to play with her Energiser bunny toy. Like the bunny, Ruby seemingly never tires of wandering and exploring new environments.
“Ruby is a delightful, affectionate child,” mum Mandy Daddia says.
“Wherever we go people are drawn to her, she lights up the room, and will often pick out her favourite person and be cuddling them all afternoon.”
But behind the cheeky grin is a child whose future is uncertain, having been diagnosed with an incurable brain condition almost two years ago.
Beta-propeller protein-associated neurodegeneration (BPAN) is a genetic disorder that damages the nervous system causing intellectual disability, seizures and degeneration.
Currently there are no drugs that can cure or even slow the progression of this devastating disorder, as little is known about its biology. Treatments only aim to alleviate symptoms.
Mandy says receiving the diagnosis felt like a “bad dream.”
“We were told not only was our daughter going to struggle her whole life but those hard-earned skills she fought so hard to achieve would eventually be lost and never to be regained,” she says.
A feeling something more serious was wrong
When Ruby, the Daddia’s middle child, was around eight months old, Mandy and her husband Jonathan noticed some delays in how their baby girl was developing.
“We saw different doctors about our concerns and none of them thought there was anything alarming because she was such an alert and engaged baby,” Mandy says.
But when Ruby reached 12 months, the family had a feeling something more serious was wrong when she wasn’t reaching the regular one-year milestones.
“We realised that she was not doing any of the things regular babies are doing at this stage, like pulling to stand, crawling, waving, and pointing,” Mandy says.
An unfortunate and terrible prognosis
Ruby’s BPAN diagnosis means her health will deteriorate rapidly in the years to come.
“It is very serious and unfortunately has a terrible prognosis. At the moment it affects her life by causing her to have serious development delay, seizures and difficulty with some of her gross motor skills,” Mandy says.
“The diagnosis means that Ruby will have delays and difficulties her whole life but when she reaches adolescence or her early 20's Ruby will begin to regress.”
Mandy says thinking about her little girl’s future is a “scary” thought.
“Ruby is such a delightful and affectionate child. She lights up a room and brings so much joy to everyone that meets her. The thought of what lies ahead is devastating,” she says.
"My biggest fear is that she will suffer and be in pain.”
But Mandy and Jonathan remain optimistic that a scientific breakthrough is possible for the incurable disease within Ruby’s lifetime. They have placed their hope in the Murdoch Children’s Research Institute, who announced in late 2019 thanks to the generosity of passionate donors, a dedicated research program to investigate the cause of BPAN and search for potential treatments. It is the only research study into BPAN in Australia, and one of very few around the world.