Living with an inherited balance disorder
Dianne Sahyoun lived a full and happy life with her husband George and three children until she was 50 and noticed she couldn’t walk down the stairs at home without losing her balance.
Dianne Sahyoun lived a full and happy life with her husband George and three children until she was 50 and noticed she couldn’t walk down the stairs at home without losing her balance.
“I was diagnosed with the same neurological syndrome that four of my siblings have called CANVAS which means, among other things, that I can’t keep my balance and live in constant fear of falling.”
CANVAS (Cerebellar Ataxia Neuropathy and Vestibular Areflexia Syndrome) leads to shrinkage of the part of the brain that controls muscle coordination and balance, damage to nerves, and a change to the inner ear reflex that keeps the eyes steady when the head is moving.
I have so many symptoms it’s hard to list them all. I’m constantly dizzy, my eyes move about, I can’t control my walking, my speech is slurred and the cramping in my muscles is agony sometimes. Dianne
Gradually getting worse over time, Dianne is now 66 and can no longer drive, needs a walking aid and can’t leave the house without help.
She says: “The other day I was out with George and a security guard accused me of being drunk because I limp and have slurred speech. It’s an incredibly frustrating condition.”
The syndrome was first described in 2011 by A/Prof David Szmulewicz (who’s team subsequently discovered the gene that causes the disease), and because researchers are still learning about it there is very little that can be done to help people like Dianne except relieve the pain and improve muscle strength with physiotherapy.
CANVAS is one of many conditions that come under the umbrella term of cerebellar ataxias. While they are all different, many are inherited and very debilitating.
Bionics Institute researcher A/Prof David Szmulewicz leads the team investigating ways to make testing and treatment for cerebellar ataxias more widely available to people like Dianne.
A/Prof Szmulewicz says there are researchers investigating gene therapy treatments for cerebellar ataxias, but it is impossible to assess how effective they are without an accurate test showing whether the disease is getting better or worse in response to treatment.
“The aim of my research is to establish the different ways these genetic disorders manifest in individuals and assess disease progression such as poor gait or difficulty swallowing,” he says.
As part of his research A/Prof Szmulewicz has developed a groundbreaking diagnostic platform that utilises wearable sensors and AI to diagnose and accurately measure the progression of ataxia.
He is working closely with a team of engineers at the Bionics Institute and collaborating clinical researchers to test the system in real-world scenarios in preparation for making it more widely available for the benefit of patients.
My hope is that one day Australians with cerebellar ataxias will be able to access new gene therapy treatments and live a better quality of life. A/Prof Szmulewicz
