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Hitomi -> Re: Late Onset Tay Sachs (April 11, 2007 3:27:00 PM)
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There are different forms. At birth, they die by age 5. There is also juvenile and late onset (rare). I think the difference is, rather than a complete absence of an enyzme, there is a decreased amount of the enzyme and no decreased life expectancy. The father called and requested PT. He has a 45 y.o. and a 38 y.o. son who both have late onset (and his wife is blind). I'm not really questioning the dx b/c he has been through the gamut at various medical facilities. He says that studies show there is no real benefit of PT for these patients, but his son is at a facility getting PT in Long Island, NY and has begun walking again. I'm assuming there is no recovery, only maintaining/ improving quality for the patient and those involved in his care. Father has also requested a "refresher" in transfers, etc. as he is the primary caregiver of his wife and 45 y.o. son- who has recently moved back in with them because of regression/lack of motivation. I agree with treating the dysfunction. As a PTA, I guess I'll wait for the POC and go from there! Thanks for the reply!
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