Ataxia UK
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Just got my genetic test results

Hi just had my results back from the genetic test for ARSACS illness. They were negative, so i guess that means that i have one of the many unidentifable illnesses. I feel a bit down about that. The doctors can't answer most of my questions and we won't know what the future may hold.

I don't know if there are any more tests they can do - but i think that they have done them all. It's pooh!!!

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what is ARSACS?

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Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay

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Hi

I have had all the tests

Seen all the overqualified quacks

To no avail

I simply try to accept my lot

Realising others simply do not understand.

Regards

Barney

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Like Barney I have accepted my lot.My Ataxia is unknown.It is good to eliminate certain things.Its just Cerebellar Disease ofunknown cause.Look on the bright side .

At least we are stillll here and there must be something you enjoy.

Remember the disappointment though..I was told the same things last year.

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LIke others, my ataxia is of an "unknown" origin. I've had genetic testing, which was negative, as well as an array of other testing (blood, nerve/muscle, MRI's etc.). Although I'm the only one in my family, as far back as we know, that has ataxia, my neurologist thinks there's no ataxia that isn't genetic. Therefore, he believes I was born with a ataxic gene, passed on from someone way, way back in my family. The gene hasn't (and probably won't be in my lifetime) been identified yet. Just his theory, but I'll never know for sure. I've accepted my Sporadic Cerebellar Ataxia, and embrace all the things I can still do! Yes, I used to want to know "why" I have this, but I do, and there's nothing I can do about it anyway. I was diagnosed 10 years ago. I agree Silkwood, I'm still here...,ha! I can't control my ataxia, but I do have control over my attitude. Therefore, I chose to be as positive as possible! ;o)

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I have not had any tests noone has suggested any .Most of my information has come fromthis site and peoples commentsMy GP seems to think that as there is no treatmaent there .is no point in persuing it further

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There's no treatment. But can treat symtoms to a certain degree. Physio is crucial. I'm sure i would not be walking at all now without the physio, and i would be in much more pain from the spasms. Pursue your GP for further help. Don't let him just sit on his laurels.

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Thanks for your replies. I know that knowing exactly doesn't really make any difference. There is no real treatment anyway. Just somehow or other would be good to have an exact diagnoses and know what to maybe expect. I do know that it is def not auto-immune so almost def genetic.

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