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On Christmas Day in 2017, Beck Webber, 48, fell down the stairs at home after losing her balance.
She needed major back surgery.
It was the culmination of a few years of unusual symptoms such as changes in her eyesight and voice, symptoms which the agricultural worker says were dismissed by medics.
But the accident finally led to a devastating diagnosis of a progressive neurodegenerative disease that multiple members of her family are so far the only ones in Australia to be diagnosed with.
Doctors believe the mother of three has less than ten years to live.
“We liken it to being at the crossroads of having Motor Neurone Disease, Parkinson’s and Multiple Sclerosis, with further complications at the same time,” Webber said.
It’s a rare form of the cognitive condition ataxia.
It affects the cerebellum, the part of the brain that’s responsible for co-ordination, which includes everything from walking to swallowing.
Webber had to face the reality that she could have the devastating condition too.
When the results for her blood tests came back from the USA, where they had to be examined, her doctor phoned her.
“She said to me, ‘do you want someone with you?’, ‘I said no, just give me the results,” she said.
“She said ‘you have got it.’
“I asked, ‘what does that mean as far as speed of progression and eventual death?”
“She said, ‘you are such an unknown, we just don’t know.’
“I’m rarer than rare, there’s only a few families worldwide that have it – a couple in Japan, a couple in Spain, and only one in the US,” she said.
However, medics have since told her she could have as little as a decade left.
“It’s very hard,” she said.
Webber’s grandmother died from complications related to the condition, which had been undiagnosed until after her death.
Webber says her condition has worsened since the 2020 diagnosis.
She has trouble swallowing, she’s losing her hearing and her sight is deteriorating so she faces giving up her driving licence.
She has hyperreflexia, and muscle wastage.
Simple things like putting on her make-up or brushing her teeth are now a struggle, and she needs a cane or walker.
There’s a chance some of her children, who are aged 17, 16, and 13, have also inherited it.
They can’t find out until they’re 18.
Rediscovering a forgotten joy
One joy, which has come from Webber’s diagnosis, has been rediscovering her love of horse riding.
Though she had ridden from when she was a child until she was in her 20s, she got involved with horses again after her diagnosis via therapy at Equine Pathways Australia.
That progressed and she has now won multiple prizes in Western riding, including for the sport of reining, which sees the rider guide the horse through a series of moves in an arena.
“It’s a cliché but it’s the freedom of being able to move with another partner, having the trust and the connection, just enjoying all of the therapy that comes with working with animals give me a lot,” she said.
“It gives me a reason to wake up every day.”
She is aiming for the Paralympics, and wants to compete in the para-dressage in Los Angeles in 2028 – though still needs a horse good enough to ride.
What is Spinocerebellar ataxia type 36?
Expert Dr David Szmulewicz, a Neurologist and Neuro-otologist called Webber’s condition “a rare among rare diseases”.
“As far as we know there’s one family, and at most they had 18 affected members among four generations,” he told 9News.
“With some of these really rare diseases, we don’t really know how common they are as people don’t test for them.”
Szmulewicz said gene therapies, which work by ‘blocking’ mutations are a recent medical advancement giving hope to some living with the conditions- but it could be some way away for this type.
Webber has also just been named as an ambassador for charity, Rare Voices Australia, which helps people living with rare diseases.
The charity’s chief executive officer, Nicole Millis Chief, said: “Our ambassadors remind us that the individual stories of people living with a rare disease, their families and carers must always remain central to drive effective systemic change.”
Contact reporter Sarah Swain: [email protected]
