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Ataxia UK
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how do you get tested for Ataxia?

Hi all, several members of my family have ataxia and i wondered what the process is to get tested? Thanks :-)

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Hi Thomas

Your first port of call would be to discuss the matter with your GP who should then refer you on to the most appropriate person. You would have to have genetic counselling to ensure that you are fully aware of what having a diagnosis of Ataxia (or not as hopefully the case is)

entails and what it would mean for you. The helpline at Ataxia UK on 0845 644 0606 would be able to give you further advice.

I hope this is helpful

Harriet

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You'd most likely need to be referred to a neurology consultant by your GP, I don't know if its the same for everybody but testing could involve an MRI scan and/or Genetic Blood testing amongst other things.

Regards

Andy

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thank you both for your answers.

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You're welcome!

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Hi Thomas

I under went 18 months of various tests before I was diagnosed, ranging from CAT scans, MRI scans, Spinal taps, numerous blood tests, the list goes on... I am sure the members of your family with Ataxia have been through the same.

My Sons & Daughter have the same worries and my Neurologist has invited them to attend my next appointment so they can discuss matters with him. As Harriet & Andy have said, I think your first port of call is your GP and a referal.

Good luck and I sincerely hope you have some good news at the end of it.

Regards

Bob

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Hello Thomas

I think that if the doctors know what sort of ataxia affects your family, they can test for it. We all want and behave very differently, but this is what happened to my family, if it helps.

Way back in 1993, my Dad was one of the first people to be diagnosed with having SCA1. He was in his early 60s and had 3 daughters. We were offered tests. I wanted to know immediately and was referred to the West Midlands Regional Clinical Genetics Service. They were brilliant and gave me and my husband counselling to explain all the implications. After, I decided to have the test and was found to have inherited the faulty gene. It took me about a year to come to terms with knowing that even though I was not showing any signs, I would definitely have SCA1 when I was older and that my children have a 50% chance of having inherited my faulty gene. Because our children were very young at the time, the doctors would not test them because my family's ataxia does not start until you are in your 40s, so they were not in no immediate danger. They said it was their choice as adults to make. At the time I found this very hard. I did not want to tell them about having a chance of having SCA1, but our GP explained that it was easier to grow-up knowing you MIGHT have something than finding out later as a big shock, like I had. Our kids are now in their 20s and know that the Ataxia Centre, where I go, will test them when they want to. They have decided that they do not want to know at the moment and want to get on with their lives.

My eldest sister decided not to have the ataxia test. She has since developed symptoms and the doctors tested her to be certain it was SCA1, and it was. My other sister had had a nervous breakdown earlier about the though of being tested but came through it. After counselling she was clear when she was tested.

It is not easy going from a might to a definite yes that you have ataxia. The Regional Genetic Services are excellent at their job though and provide plenty of support.

I hope this helps. I am sorry it is so long!

All the best

Lit

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Thanks Litty & bob, this really helps and gives me something to think about. I have always known i have the chance of having ataxia, but my dad, uncle and aunt are such inspirations and cope with it so well.... I will have to think about this and talk to Ataxia UK...

Thanks again.

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