Torsion Dystonia, DNA, and What are the Odds?
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I'm going to talk a little more about my brothers WC and RA, specifically, my other brother WC, whom I mentioned briefly as being handicapped in my previous post.
WC is handicapped and severely at that, with a disease called Torsion Dystonia. That is what they call it now. His original diagnosis when he was little, was Dystonia Musculorum Deformans.
There is no cure for Torsion Dystonia, and the Doctors really can't seem to do just a whole lot for it. We were told it is very rare if you do not have Jewish ancestry. (I am still not convinced we don't for several reasons) It is most common in those of the ancestry of the Ashkenazi Jews.
From my observations it acts a lot like Cerebral Palsy, and in fact, that was kind of the approach the doctors took to some extent as well.
At first my brother WC seemed to be a perfectly normal little boy. There was absolutely no sign of the disease until he was in about first grade. At that point he seemed to start weaving around when he walked. My mom noticed. We all noticed. The kids at school noticed and they started teasing him and saying he was drunk. I would get mad and try and defend him.
My mom took him to several doctors, some ridiculously said there was nothing wrong with him and accused him of just "acting up".
Finally we got a diagnosis. There were many long trips to and from the Childrens Hospital in San Antonio and to the Cerebral Palsy Treatment Center.
There were many fittings for braces for his feet and ankles, wheelchair purchases, and at one point a surgery on his ankles that was supposed to help him walk better as the condition worsened.
There was talk of brain surgery to try to freeze the portion of his brain that controlled his muscles in hopes his muscle control wouldn't deteriorate any more than it already had.
The disease affected more than just his ankles. It affects all of his movement, hand control and even his speech.
Back in the day, we were told at one point, although I don't know which doctor relayed this to my mom, but we were told not to expect my brother to live past his twenties. I am thankful that doctor, proved to be wrong. My brother WC is 52 years old now.
At this point WC is totally dependent on others for his care. Every morning he has to be lifted into his wheelchair and wheeled into the living room and then lifted into his recliner which is where he spends most of his day. When he is given his meals he can feed himself but it is a difficult process for him and one never knows if his hand will suddenly jerk and send his entire plate flying across the room.
My sister and my brother take care of him. He used to work in a sheltered workshop and he helped to make candles. He did that for many years until he retired recently.
I try to find things to help him occupy his mind. He attempts video games. I buy him audio books, cds and such.
When I made my post the other day about RA, it made me think of both of my brothers and the conditions they were born with, and it seems to me the odds of having two brothers with conditions such as they have must be pretty astronomically slim.
I had my DNA tested last year and of course I still have not researched the whole thing to fully understand all there is to know about DNA testing results but I find it interesting that I have 2 mutations in my HVR2 results on my mother's MTDNA test that so far cause me to not completely match anyone.
The matches I do have on my HVR1 are producing some odd results. I am getting matches from people in Central and the Middle East as well as other matches that I have been able to identify as closer relatives.
Since my MTDNA haplogroup is J and I am coming up with matches in Romania and the like, I am thinking there is a fair chance of Jewish ancestry that explains the Torsion Dystonia, I just have not proved it with my genealogy charts yet.
****
Below are two links for Torsion Dystonia and DMD if you care to check them out
Dystonia Musculoram Deformans
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Torsion Dystonia
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WC is handicapped and severely at that, with a disease called Torsion Dystonia. That is what they call it now. His original diagnosis when he was little, was Dystonia Musculorum Deformans.
There is no cure for Torsion Dystonia, and the Doctors really can't seem to do just a whole lot for it. We were told it is very rare if you do not have Jewish ancestry. (I am still not convinced we don't for several reasons) It is most common in those of the ancestry of the Ashkenazi Jews.
From my observations it acts a lot like Cerebral Palsy, and in fact, that was kind of the approach the doctors took to some extent as well.
At first my brother WC seemed to be a perfectly normal little boy. There was absolutely no sign of the disease until he was in about first grade. At that point he seemed to start weaving around when he walked. My mom noticed. We all noticed. The kids at school noticed and they started teasing him and saying he was drunk. I would get mad and try and defend him.
My mom took him to several doctors, some ridiculously said there was nothing wrong with him and accused him of just "acting up".
Finally we got a diagnosis. There were many long trips to and from the Childrens Hospital in San Antonio and to the Cerebral Palsy Treatment Center.
There were many fittings for braces for his feet and ankles, wheelchair purchases, and at one point a surgery on his ankles that was supposed to help him walk better as the condition worsened.
There was talk of brain surgery to try to freeze the portion of his brain that controlled his muscles in hopes his muscle control wouldn't deteriorate any more than it already had.
The disease affected more than just his ankles. It affects all of his movement, hand control and even his speech.
Back in the day, we were told at one point, although I don't know which doctor relayed this to my mom, but we were told not to expect my brother to live past his twenties. I am thankful that doctor, proved to be wrong. My brother WC is 52 years old now.
At this point WC is totally dependent on others for his care. Every morning he has to be lifted into his wheelchair and wheeled into the living room and then lifted into his recliner which is where he spends most of his day. When he is given his meals he can feed himself but it is a difficult process for him and one never knows if his hand will suddenly jerk and send his entire plate flying across the room.
My sister and my brother take care of him. He used to work in a sheltered workshop and he helped to make candles. He did that for many years until he retired recently.
I try to find things to help him occupy his mind. He attempts video games. I buy him audio books, cds and such.
When I made my post the other day about RA, it made me think of both of my brothers and the conditions they were born with, and it seems to me the odds of having two brothers with conditions such as they have must be pretty astronomically slim.
I had my DNA tested last year and of course I still have not researched the whole thing to fully understand all there is to know about DNA testing results but I find it interesting that I have 2 mutations in my HVR2 results on my mother's MTDNA test that so far cause me to not completely match anyone.
The matches I do have on my HVR1 are producing some odd results. I am getting matches from people in Central and the Middle East as well as other matches that I have been able to identify as closer relatives.
Since my MTDNA haplogroup is J and I am coming up with matches in Romania and the like, I am thinking there is a fair chance of Jewish ancestry that explains the Torsion Dystonia, I just have not proved it with my genealogy charts yet.
****
Below are two links for Torsion Dystonia and DMD if you care to check them out
Press Back button to return to this page
Press Back button to return to this page
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