Thread: Genetic Testing
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Old 12-11-2007, 10:56 AM
color color is offline
Junior Member
 
Join Date: Dec 2007
Location: eastern PA
Posts: 41
15 yr Member
color color is offline
Junior Member
 
Join Date: Dec 2007
Location: eastern PA
Posts: 41
15 yr Member
Default My story

I'll bite! Firstly, let me tell you my story, abbreviated version -- I actually started out with hyperreflexia and slurred speech in my late 20's. And those symptoms, coupled with my family history and progressive neurologic problems, prompted my neurologist to send me for an MRI of the brain to capture the atrophy and he also ordered the "Complete Ataxia Evaluation" profile of tests from Athena Labs in early 2006. The profile only tested for a handful of possible types of SCAs (Spino-Cerebellar Ataxia), and to no surprise, my results came back negative for SCA1, 2,3,6, 7, 8, 10, 14, 17, DRPLA, FRDA1, and AOA1. That is why we were given the "SCA, type unknown " diagnosis -- ours is clearly autosomal dominant, that much we know, but not much more...And so here is my game plan -- I will continue with the gene testing as more tests become commercially available, under the discretion of my Ataxia specialist. Yes, I know it's a very expensive outlet for research that may or may not ever capture and reveal our faulty gene, but I'm determined to continue to pursue any type of medical research that I can, mostly for future generations. According to my specialist, ours is a rare type, possibly the next SCA yet to join the ranks of obtaining its very own number...We'll see.
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