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How rare is it for Tay Sachs disease to start to manifest later in life?
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Default How rare is it for Tay Sachs disease to start to manifest later in life? - 12-22-2008, 06:07 PM

My sister was tested positive for Tay Sachs and my mother decided to carry her to term and but for some reason she never began to show the symptoms of it as a small child like everyone expected. She's 17 now and very bright and seems perfectly normal. The doctors think the symptoms will probably start up eventually though. How rare is late onset Tay Sachs disease and does anyone who has it ever not start to show symptoms at all?
   
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Default 12-26-2008, 11:27 PM

She just doesn't have the infantile form of it. The late onset type is nonfatal (great news there!) but often these people have neurodegenerative issues... so she will probably end up not being able to walk on her own. And there are a whole slew of neurological issues that are not great that go along with it (cognitive decline, psychological issues, speech and swallowing issues, etc).Either way, she really needs to consider getting genetic testing done on her partner if she ever decides to have children. Although it's very uncommon, if her partner is a carrier, they have a 25% chance of having a child with the disorder. She's young, but she needs to think about this NOW.EDIT - btw, it's VERY rare to get the non-infantile forms of it. The disease is rare to begin with, but her form is even more rare.
   
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