I have a hereditary cerebellar ataxia - what now? - Ataxia UK

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I have a hereditary cerebellar ataxia - what now?

edfosho profile image
9 Replies

Hi,

I have a hereditary cerebellar ataxia - specifically, SYNE1-related spinocerebellar ataxia (ARCA8) - whatever that means...

Symptoms have slowly crept up on me during my 20s and I recently received a diagnosis, shortly after turning 30.

I'm under care at the London Ataxia Centre, NHNN. Like for many here, it's a rare condition, it will progress slowly, and it's very unknown with regards to an outcome.

I'm single, live alone, and do not have any dependants. I run a small business with my Dad (just the two of us, and he wants to retire soon) and I work from home 99% of the time. I've got several friendship groups and I get on well with my family - but, like many recently diagnosed with a rare disease, I don't know anyone in a similar situation.

The main thing on my mind (besides learning to live with the ataxia symptoms) is wondering how I should approach long-term commitments e.g. relationships, or work, or financial planning (e.g. should I bother paying into a pension fund?).

I would like to know if there is anyone else in a similar position or at a similar age, that I can talk to - see how they're getting on too. Otherwise, any advice is much appreciated.

Thanks all - take care!

Ed

9 Replies
PatsyIpswich profile image
PatsyIpswich

My short answer would be yes plan fo future .. I will be 79 in November.

violasrbest profile image
violasrbest

Hi Ed

I was diagnosed at 36. I have recently taken long-term sick from work at the age of 56. I have had a wheelchair since I was 54, and has a walking stick for 5 years before that, I have a wife and two sons. I had a 400% loading on life assurance, but have paid into pension schemes all my life and don't expect those payments to have been wasted!

I have SCA15, and all ataxia's are different.

All the best

Richard

edfosho profile image
edfosho in reply to violasrbest

Thanks for your reply, Richard.

wobblybee profile image
wobblybee

🙂 You might still be eligible for this group..

The 16-30’s project is an online-based network that gives young people across the UK with ataxia access to specialised support, information and advice. This is done through a stand-alone website and blog, as well as a closed Facebook group (email Leanna Coleman at communications@ataxia.org.uk to request to join). Members of the project contribute to the blog, sharing their stories, building connections and friendships along the way.

🙂 I donated DNA for a research project, and found I have a link with Syne1.

Although it isn’t 100%.

edfosho profile image
edfosho in reply to wobblybee

Thanks, I will enquire!

Also, link with Syne1 - interesting!

Jamesataxiauk profile image
Jamesataxiauk

HI Ed

My name Is James, and I am the Community Programme Manager at Ataxia UK. My role is to provide services for those affected by ataxia. For those recently diagnosed, we have our all about ataxia session booked in for August. This is a workshop where we aim to;

• Understand the medical implications of ataxia and what can help you

• Hear how the facilitators have learned to live with ataxia and remain active

• Learn from other participants how they are facing the diagnosis

• Understand what support and services Ataxia UK offers.

Our next session is 21st/22nd August, from 10:00am-1:30pm. You can find out more through the link below;

ataxia.org.uk/ataxia-uk-eve...

I would be happy to offer any further information/support as needed. I can be reached on Jatkins@ataxia.org.uk

Kind regards

James Atkins

InControl Community Programme Manager

edfosho profile image
edfosho in reply to Jamesataxiauk

Many thanks for your response, James.

I have registered - looking forward to it.

Lili986 profile image
Lili986

I'm 27. Still under investigation. It came very suddenly and the Neurologist said there is no treatment. It's been hard to deal with...

edfosho profile image
edfosho in reply to Lili986

It's really hard to deal with, especially during the investigation period - between "there's something wrong" to "ah, this is why".

From my GP, I was referred to a local speech therapist, who took 5 minutes with me and referred me to a local neurologist. The neurologist initially requested a MRI of the spine and brain (and various other tests), and the MRI showed some issues with the cerebellum. I had that news a couple of weeks before lockdown in the UK, March 2020. After few months of little progress (understandable, the NHS was tackling a novel virus), the neurologist referred me to the National Hospital for Neurology and Neurosurgery in London. It wasn't until a couple more months I heard I was triaged to their ataxia clinic. That was the first time I heard the word ataxia. Then come May 2021 a genetic test found the issue. I'm fortunate the underlying cause was found fairly quickly.

I understand everyone has a different diagnosis story to tell, varying lengths, visiting different hospital departments, and dealing with all the physical and mental health challenges alongside it. Hope you're OK, you'll get there.

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