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Late Onset Tay Sachs
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Late Onset Tay Sachs - April 10, 2007 5:35:00 PM
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Hitomi
Posts: 18
Joined: October 13, 2006
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We have a 45 y.o. patient with Tay Sachs Syndrome coming into the clinic for evaluation. Anyone have any experience/suggestions?
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Re: Late Onset Tay Sachs - April 11, 2007 10:01:00 AM
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FLAOrthoPT
Posts: 1011
Joined: May 8, 2004
From: West Palm Beach
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you sure it is tay sachs? isn't tay sachs developmental, and don't most of the pts die by like age 5? as with any disease or syndrome, treat what the presentation is for the dysfunction but as with any disease, your treatment plan should reflect the potential for recovery based on the disease process as well.
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Re: Late Onset Tay Sachs - April 11, 2007 3:27:00 PM
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Hitomi
Posts: 18
Joined: October 13, 2006
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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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Re: Late Onset Tay Sachs - April 12, 2007 5:38:00 AM
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FLAOrthoPT
Posts: 1011
Joined: May 8, 2004
From: West Palm Beach
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i guess sadly it depends on insurance, for example, medicare doesn't look fondly upon maintenance type treatment, in fact you can't do it. So if they are looking for education, then have a 3 visit or so goal or teaching, watching and critiquing, then maybe observing at home. but teaching a restorative type program is one thing, carrying it out is a slippery slope because tough to tell when you're done, the pt and family become psychologically stuckon Tx and then you have insurance to worry about
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