Ed, one of Ataxia UK’s media ambassadors, talks about his diagnosis journey.
Hi, My name’s Ed and I have hereditary cerebellar ataxia – specifically, SYNE1-related spinocerebellar ataxia (ARCA8). Symptoms have slowly crept up on me during my 20s and I recently received a diagnosis (shortly after turning 30 in 2021).
How did it start?
During a meeting at work in 2015 (I worked in the IT department for a university back then) I noticed it was difficult to speak to my colleagues – this was unusual, I have a lot to talk about when I’m engaged in something! Very slowly, over the years, I noticed it more – especially towards the end of the day and when I was tired – and eventually my colleagues, friends, and family noticed me struggling to get words out and occasionally slurring.
Referral to Neurology…?!
Mid-2019 I went to my GP about my speech issues, and I was quickly told I had a tongue-tie and I was referred to a local speech therapist to confirm and arrange some simple surgery to correct it. After two months of thinking “yes, I can finally look forward to speaking properly again!”, I saw the speech therapist. She spent 5 minutes with me and said I needed to be referred to the local neurology department… I was shocked, neurology, they deal with issues affecting the brain, right? Having learnt this, and waiting another 3 months, I saw the neurologist and had an MRI scan of the head and spine arranged.
We’re getting somewhere…
Mid-February 2020 I had the MRI. 10th March I learned my cerebellum was of diffused volume (i.e. it was scrunched up), and that the neurologist wanted to book me in for some further tests, including a Lumbar Puncture. Towards the end of March 2020 the UK went into a strict lockdown because of the novel coronavirus, and as the hospitals reacted to Covid-19 I expected more delays – it wasn’t nice knowing my brain had this issue, but I was unable to find out why.
After a few months of worry, eventually I heard I had been referred to the National Hospital for Neurology and Neurosurgery in London. Upon chasing the referral in September 2020, I found out I had been triaged to the “Ataxia Centre” based on my symptoms – this was the first time I had ever heard the word “ataxia”. By this time I was noticing more issues, such as a struggle to maintain a grip, fatigue, and balance issues.
Seeing the Ataxia Specialist
October 2020 I attended the National Hospital for Neurology and Neurosurgery Ataxia Centre for my initial consultation with a neurologist who specialises in ataxia. I was told they highly suspected it’ll be genetic, and a neurodegenerative disease – this was based on my age, symptom progression, and “clinical picture” (that’s a term I’ve heard a lot). It was here I found out my double-vision (caused by weak muscles behind the eyes) was also related to the damaged cerebellum – I never thought my speech issues and double vision were linked!
Fast forward to May 2021 and I found out I had a SYNE1-related spinocerebellar ataxia (ARCA 8), where it is inherited recessively from both of my parents. This was a shock to my family, as I was the first to present symptoms – I have two brothers who are not presenting any symptoms. Upon asking what my outcome looks like, I was told “we’re not sure”. My jaw dropped. But I was reassured it’s expected to be a slow progression and there’s some brilliant research into the genetic ataxias to learn more and work towards a cure.
April 2022 my parents attended the National Hospital for Neurology and Neurosurgery because the Ataxia Centre is keen to confirm their findings from my genetic testing.