Re: Question on Response to Question on OPCA
Re: Question on Response to Question on OPCA
Posted by ccf neuro M.D.* on August 24, 1997 at 15:15:21:
In Reply to: Question on Response to Question on OPCA posted by Sandy Clarke on August 20, 1997 at 18:25:19:
I apologize for my incompetence on using your forum. I wanted to post follow-up questions about the response to my question on OPCA. Thank you very much for your quick response. As I stated, my mother passed away at the age of 73, however, we do not know when she first contracted the disease. She had some symptoms, such as loss of balance and coordination, I would say in her late 50's. It was some time after that that she began having trouble with slurred speech. In her early 60's, she had trouble with such things as writing, for example, she would be able to print but could no longer write because she couldn't join the letters in a word. She was mentally very sharp and alert until her last moment with us, she had no memory loss or confusion. Is it possible that she had a familial form and not the sporadic form that you mentioned. I thank you for your advice on the controversial aspects of gene testing, I have seen American television programs on the trouble that some people have encountered because of gene testing and I will proceed with caution in this area. Thank you in advance for any help you can provide, and again I apologize for not knowing my way around your forum. I hope the way I've gone about this follow-up question doesn't pose too much inconvenience.
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Sandy,
It is Ok to post a followup question in the manner you have done. There is no way to prove your mother did not have a familial form of OPCA, but it is very unlikely in the absence of a family history of the disease, although obviously in cases where there is a family history, someone in the family had to be the first to contract the gene mutation that caused the familial form of the disease, AND passed it on to their offspring. I think the most important issue for you to consider is would an exhaustive search for genetic testing of low yield change the way you would live your life or your decisions about parenting in the improbable event that you did find a gene predisposing you or other family members to the disease. If the answer is no, then there is no practical reason to be concerned about or pursue gene testing. If on the other hand it is deeply worrying you or you are obsessed about knowing AND would change how you live your life and/or choosing to have children, then it may be worth pursuing, even though the odds are favorable that such testing would be negative. Thus, in essence, this is a deeply personal dilemma more than a medical dilemma, and only you and your siblings can each decide whwther or not this is something you wish to pursue. A good thing is that you do have the luxury of time in your favor as OPCA is generally a slow disease process of very gradual onset, and again does not typically affect younger people.
A final comment I would make is about your observation that your mother had very little cognitive problem from the disease. This is typical, unlike with progressive dementias like Alzheimer's disease. OPCA has little effect on the nerves that allow one to think and reason compared to its effect on other nerves. Good Luck to You!
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