Upon first glance, four-and-a-half-year-old Ruby is the sweetest, most affectionate child who is full of joy. But behind the most gorgeous smile is a child whose future is plagued with doubt and debilitating illness.
Around 18 months ago, Ruby was diagnosed with BPAN disease, an incurable rare brain disorder also known as Beta-Propeller Protein-Associated Neuro Degeneration, which there is currently no cure for.
It’s a diagnosis no parent ever wants to hear – a moment mum Mandy and Dad Jonathan describe as the “absolute worst”.
“It felt like a bad dream. Being told that not only was our daughter going to struggle her whole life but those hard-earned skills that she was going to fight so hard to achieve would be lost – never to be regained – when the regression begins,” mum Mandy tells Kidspot.
Ruby is the most loving child, says mum Mandy. | Image source: Kidspot
BPAN disease: The symptoms no one thought would lead to this
When Ruby was around eight months old, Mandy and Jonathan noticed a few developmental delays in their baby girl.
“We noticed that she had some delays with her development. We saw different doctors and none of them thought there was anything alarming because she was such an alert and engaged baby,” Mandy recalls.
But when they hit 12 months, the family had a feeling something more serious was up when Ruby 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 and Jonathan with their children – Amelia, Ruby and Jamie. | Image source: Kidspot
Ruby’s heartbreaking diagnosis
Ruby’s devastating diagnosis of BPAN disease means her health will deteriorate rapidly in the years to come. She will suffer from Parkinson’s Disease, Dystonia, vision loss, and Alzheimer’s Disease before she is 20.
“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 shares.
“The diagnosis means that Ruby will have delays and difficulties her whole life but when she reached adolescence or her early 20’s Ruby will begin to regress.”
Ruby with her siblings – Jamie, 1 (left) and Amelia, 6 (right). | Image source: Kidspot
A future plagued with doubt
While Mum Mandy insists Ruby’s illness has brought the family close together and has given them a new appreciation for living in the moment, thinking about her bubbly little girl’s future is a “scary” thought.
“It is very sad and very scary. 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.
“My biggest fear is that she will suffer and be in pain.”
It’s thinking about the future that has prompted Mandy and Jonathan’s push for a cure.
The family hopes for a cure to help others like Ruby. | Image source: Kidspot
Hope for a cure for BPAN disease
Giving sufferers of the same disease hope, the Murdoch Children’s Research Institute is currently exploring treatment options for BPAN disease with new cutting edge research underway.
The new research has the capacity to benefit many neurological disorders, including Motor Neuron Disease and Parkinson’s to name a couple. But in order to fun a second and third year of research, the institute needs to raise another $300,000.
While funding is a struggle, Mandy and Jonathan remain optimistic that a scientific breakthrough is possible for the incurable disease.
“We are really hoping that the new research project will yield some results. They are using the most cutting edge technology and some very exciting new techniques. We are hoping that they will discover a treatment or a cure.
In the meantime, it’s enjoying life with their full-of-life bundle of joy.
“Fortunately she doesn’t understand what is going on. She is just the sweetest most affectionate child. Full of joy and that’s what draws people to her.”
If you would like to help, visit Ruby’s Go Fund Me page. All funds will go directly to the Murdoch Children’s Research Institute.
This article was first published Kidspot and was republished on theAsianparent with permission.
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