Firm diagnosis at last

[violasrbest]

Hi

I've had ataxia for years (I was diagnosed 20 years ago) and yesterday on my visit to the neurologist I was told that they have defined the type of ataxia, SCA 15, and the gene is completely missing. So my take-away is that it may take a long, long time, but eventually they get there.

[pollybanana]

I am glad you have found an answer. Is this an inherited defect or can it happen to anyone. How did they find out after all this time? I have no family history ss far as I am aware but have no answer for my ataxia. I know it won't change my condition but I would like to know. Good luck.

[Litty]

Glad they found it after all this time x

[wobblybee]

Hi 🙂 Do you find symptoms have changed much over the years🤔xBeryl

[violasrbest]

Thanks all

Yes, my symptoms have deteriorated over time. 6 or 7 years ago I started using a walking stick, about a year ago i started to use a wheelchair, and I am about to give up working.

As to how they found it, they stored several of my blood samples and tested it against each new type of ataxia. SCA 15 was found circa 2001, but in my case the gene just wasn't there, presumably making it harder to diagnose.

There is a family history, but no-one else has asked for a formal diagnosis because their symptoms are very mild.

[carerwife]

violas - any chance of gene therapy helping your condition?

[violasrbest in reply to carerwife]

Wouldn't that be great? But unfortunately I don't think so

But I will look it up and check.