Quote:
Originally Posted by rhartn
I too am glad I found this forum!
I was diagnosed with SCA3, also known as Machado/Joseph Disease in August,2006 after finally consenting to genetic testing. I wonder what you mean by "commercially available types of autosomal dominants." I inherited from my father who was part of the orginal family being tested in this area...(New England) in the late 1960's.
My symptoms of poor balance and poor coordination started when I was 53, I am now 60. Mine is considered late onset and progression is slow. Sometimes I use a cane and need to be very aware and careful not to fall. I just saw the neurologist this week in Boston who is following me and he said there has been virtually no progression since January. Hooray!
He encouraged me to do the exercises I learned in physical therapy to improve balance and leg strengthening. ( I have been lax at this.) He says that new developments look promising in finding treatments to halt or at least slow the progression.
Hope you are doing well.
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Hello Everyone, . I am living in South Africa, and was diagnosed with SCA Type 1 last October ’12. Unfortunately, in my case it is genetic. We can trace it back to my maternal grandmother’s brother who had it (he was the only one to have it (that we know of) - although at the time not much was known about the disease and only from the symptoms that he presented, is it being presumed that he had SCA), and 3 of his 6 children had it. My grandmother didn’t have it nor did any other of her siblings or any of her children – 7, but it has manifested itself in the families of 3 of her children, my mother and her 2 older brothers. Whilst our parent didn’t have SCA, each of my uncles have lost 3 children each to SCA, and my mother has lost one already – my eldest brother. I now have an older brother who was diagnosed with SCA +/- 5years ago, and last year I was.
I am so happy to have found an online `SCA family’ to share my fears with. I was referred to a Neurologist by my Diabetic Specialist because I started having a problem with pain/burning feet and my doctor thought that Neuropathy was starting to develop in my feet. However she did know my family history of SCA as well and recommended that I be tested for it. On receiving the results I asked that particular neurologist what the way forward was and his response was; “there’s no known treatment, and no known cure. This is an incurable disease and all we can do is monitor the shrinking of the cerebellar annually by way of an MRI”.
That’s not what I wanted to hear, nor did my immediate or extended family. Everyone started phoning or asking around, and we found another Neurologist, a much younger person who appeared to be far more clued up on new developments in the Neurological field (apparently he is among the Top 10 Neurologists in South Africa). I visited him in November last year, he did confirm the diagnosis and also the statement about the treatment and cure for SCA, however he did say that there was medication “out in the market” that could help with the stumbling/instability/shaking and also help with the memory. It was just a matter of getting “the right cocktail”.
I have been on a “cocktail” of Azilect, Symmetral, Integral and Livifem (which I take at different times during the day), and it seems to be working (please God I ask). I have seen how people looked at my eldest brother and thought that he was drunk, and even when he spoke. It’s now happening to the other. That is my fear, how will I handle it.
My apologies for “loading” all this on you guys, and I hope you’ll understand that I just need to “speak” with people who understand where I am and coming from. God Bless!