Here is lovely Rare Disease Day read from Helena, who wrote about her diagnosis journey.
Just before Christmas 2023, I had an MRI to check my neurological health was okay, as I’d been experiencing symptoms like a reduction in my walking ability, fatigue, and being more clumsy than usual. When my MRI results came back, I was shocked. They showed that I hadn’t had a stroke, gotten a tumour, or had the awful diagnosis of MS, a condition that had tragically taken my aunt in May 2020, all of which I’d feared I might have. It did, however, show that my cerebellum (at the back of the brain) was smaller than the doctors would have thought it should have been for someone in their mid-twenties!
By the end of 2023, I had been diagnosed with a progressive neurological disorder called cerebellar ataxia, which basically affects my balance, coordination and speech, all of which become worse when I am feeling fatigued. The cause of my
ataxia is currently unknown but is likely to be genetic. A turning point for me in understanding both what ataxia is and in being able to communicate with others with the condition, was when I discovered the Ataxia UK website and their Instagram page.
I have also been really lucky in having a very proactive GP and local neurologist who got me referred to the local Danesbury Neurological Centre early in 2024. Here I’ve seen a neurophysiotherapist, occupational therapist, speech and language therapist and clinical psychologist, all of whom have helped me to deal with the physical, mental and practical aspects of ataxia. Another major milestone was being referred to the London Ataxia Centre in Queen Square and being assessed by Professor Paola Giunti and her team within seven months of my diagnosis. I am currently awaiting my genetic testing results. I know many people have to wait years for a diagnosis and this kind of assessment and support.
My life has been spent looking at everyone else and watching how they have achieved all of the things they have done, like getting into university, starting new jobs, and finally seeing the little baby my oldest sister had 6 months ago. It makes
me happy to see and hear all of this, however, it is also extremely hard for me, as it makes me more aware of my own loss. It is an emotional rollercoaster.
