Living With Ataxia - Online Support Group

Helen Webb

SCA6 Finally Genetically Confirmed

Well after 8 months of 2 lots of MRI's, E.M.G. nerve Conduction test,Walking in straight lines (which I cant do ) and being told I am sure it's not Ataxia It is just vertigo, I finally got my Genetic blood test in January, and the results on the 16th of March I have an abnormal expansion of the cacna1a gene, and according to the Genetics councilor I am therefor likely to develop SCA6.
During my genetic consultation I was told that they could not say I was suffering Ataxia now as they were not diagnosticians or Neurologists, but on seeing me walk in there and my behaviour she was 95% sure I was Ataxic.
I now have to wait for my Neurologist appointment in September before it is actually confirmed as Ataxia. As my Neurologist comes from the Royal Hallamshire Hospital (which has an Ataxia Clinic) and says he knows very little about Ataxia ...........why not just send me to the ataxia clinic!.......Oh well I guess I will just have to wait for September and a diagnosis.............I hope everyone is coping and keeping as well as they can

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Helen Webb Comment by Helen Webb on March 25, 2010 at 2:08pm
Thanks Vicki, I went to the Doctor and asked for the test because it run in my family, all I wanted was the blood test and it was the very last test they decided to do!!!!! It is so annoying when the one test you ask for is the one they think is not required..............but now I have to wait for my Neurologist to say my vertigo is Ataxia......well at least I know now and can get the geneticists letter off to my 4 kids for them to have the predictive genetic test .............take care and feel free to chat anytime .

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