Guest guest Posted January 21, 2000 Report Share Posted January 21, 2000 In a message dated 1/20/00 11:39:18 PM, Rose-Marie.Isakson@... writes: << Me and my older son have done the EMG-test, we were slow. The doctors seem to be quite convinced that it is CMT1A we all have. >> From my understanding then, your doctor is correct that the DNA test is not needed. It is for diagnosing and you have already been diagnosed. The DNA test would NOT help with management, treatment, and so forth. It is a label. Regards, Kat Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi, Kat. I just wanted to respond to what you wrote, for it is something I struggle with. I have had one DNA test in '94 which was negative. And what info does that give me? All I know is that it is not THAT strain of CMT. I want to know exactly what it is I have. I had some of the best neurologists in the country and it took 'em ten years to diagnose me with CMT. And as many folks here have pointed out, doctors are sometimes wrong or not completely educated as to the in and out of this disease. Mis-diagnoses do happen and, for me, knowing what particular type of CMT I have is something. Some definitive information is very helpful to some people (like me). What actual good does it do? Well, it erases questions which can gnaw at a person... Is this really even CMT I have? How is it passed? Will my kids be affected? And then what good? Probably none. But at least when I look up CMT, I will know which type I'm looking at. If people don't examine for themselves the facts they are given by others - whether by doctors or lay-people - then the power to manage and cope with their lives is diminished. I, for one, want my quality of life to be something I determine...at least in part. I don't mean to sound confrontational, but I guess I have been told for SO MANY years that I just need to accept what others tell me. Even if I have seen no evidence to back up their words and advice. I have learned a lot of priceless things since being on this CMTUS list. I never learned some of these things from the doctors I've seen. Maybe it sometimes just feels a little scary and lonely when much of my life seems beyond my control. Am I grabbing at straws? I'd love to hear what all you folks have to say in response to what I've written. And thank you all. In reading your messages, I've smiled, laughed and even cried a bit. God bless you all. Marc Blocksburg, CA Re: DNA tests > From: KathleenLS@... > > > In a message dated 1/20/00 11:39:18 PM, Rose-Marie.Isakson@... > writes: > > << Me and my older son have done the EMG-test, we were slow. The doctors seem > > to be quite convinced that it is CMT1A we all have. >> > > >From my understanding then, your doctor is correct that the DNA test is not > needed. It is for diagnosing and you have already been diagnosed. The DNA > test would NOT help with management, treatment, and so forth. It is a label. > > Regards, > Kat > > --------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi, Kat. I just wanted to respond to what you wrote, for it is something I struggle with. I have had one DNA test in '94 which was negative. And what info does that give me? All I know is that it is not THAT strain of CMT. I want to know exactly what it is I have. I had some of the best neurologists in the country and it took 'em ten years to diagnose me with CMT. And as many folks here have pointed out, doctors are sometimes wrong or not completely educated as to the in and out of this disease. Mis-diagnoses do happen and, for me, knowing what particular type of CMT I have is something. Some definitive information is very helpful to some people (like me). What actual good does it do? Well, it erases questions which can gnaw at a person... Is this really even CMT I have? How is it passed? Will my kids be affected? And then what good? Probably none. But at least when I look up CMT, I will know which type I'm looking at. If people don't examine for themselves the facts they are given by others - whether by doctors or lay-people - then the power to manage and cope with their lives is diminished. I, for one, want my quality of life to be something I determine...at least in part. I don't mean to sound confrontational, but I guess I have been told for SO MANY years that I just need to accept what others tell me. Even if I have seen no evidence to back up their words and advice. I have learned a lot of priceless things since being on this CMTUS list. I never learned some of these things from the doctors I've seen. Maybe it sometimes just feels a little scary and lonely when much of my life seems beyond my control. Am I grabbing at straws? I'd love to hear what all you folks have to say in response to what I've written. And thank you all. In reading your messages, I've smiled, laughed and even cried a bit. God bless you all. Marc Blocksburg, CA Re: DNA tests > From: KathleenLS@... > > > In a message dated 1/20/00 11:39:18 PM, Rose-Marie.Isakson@... > writes: > > << Me and my older son have done the EMG-test, we were slow. The doctors seem > > to be quite convinced that it is CMT1A we all have. >> > > >From my understanding then, your doctor is correct that the DNA test is not > needed. It is for diagnosing and you have already been diagnosed. The DNA > test would NOT help with management, treatment, and so forth. It is a label. > > Regards, > Kat > > --------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi Marc, I don't understand what I said that bothers you? Were you the one I asked why you were looking for a type (if so, I distinctly remember adding that I was just curious.) I certainly was not being critical of your interest. Some CMTers say they could NOT care less what type they have, while others go on a mission to learn more. It certainly does not matter to me what another person does. Each person needs to do what suits his or her own agenda or personality. I quote from published sources and I try to stay objective. There would be no point for me to judge or criticise anyone. I find that with e-mail it is impossible to avoid being misunderstood or misinterpreted sometimes. If I offended you I'm sorry. It certainly was not intentional. I'm a naturally curious person. I ask questions so I can better understand the other person, NOT to pass judgement or imply criticism. Have you looked through the lists of types to see where you might fit? I thought I sent you this URL the last time. This site also discusses diagnosing. The author is a medically trained professional who has quite severe CMT. I quote from sites like that, I do NOT make up information out of whole cloth. http://tor-pw1.netcom.ca/~dgosling/cmt/types.html Here is what Type 2 looks like for example (I chose this because is does not show on the genetic test. One of these may fit you. OR, you may be a subtype of 1, or who knows what other type. I can't know.) CMT TYPE 2 (Occurs in approximately 7 per 100,000 population) This is the Axonal or Neuronal Type in which the nerve fiber itself degenerates and there is an increased frequency of Restless Leg Syndrome. GENETIC STUDIES for all forms of Type 2 are limited to linkage analysis to identify the Chromosome affected, the gene has not yet been identified. These studies are only available through specific research projects. CMT Type 2A * GENE DEFECT is found on Chromosome 1 at p 36 but the gene itself has not yet been identified * INHERITANCE: Autosomal Dominant in Tunisian families with a 50% chance in each pregnancy of each child having CMT * ONSET: age 3 to 15 years * EMG Studies: show loss of nerve fibers, slightly slow nerve conduction speed in (median) nerve of hands * CLINICAL SIGNS difficulty walking, climbing stairs and running , weakness in front and back of both feet and both lower legs, with mild sensation loss and loss of reflexes in legs * GENETIC Testing is not available CMT Type 2 B * GENE DEFECT is on Chromosome 3q, the gene has not yet been identified * INHERITANCE: is Autosomal Dominant with a 50% chance in each pregnancy of each child having CMT * ONSET between 10 and 20 yrs of age * EMG Studies show loss of nerve fibers (axonal destruction), often with no response from (sural) sensation nerve in legs, normal or near normal nerve conduction speed * CLINICAL SIGNS sensation loss and weakness in both lower limbs worse than upper limbs, tendon reflexes are normal but reduced at ankles, foot ulcers often occur, no pain. symptoms vary within families from mild to severe * GENETIC Testing is not available CMT Type 2C * GENE DEFECT: gene and chromosome defect are unknown * INHERITANCE: Autosomal Dominant with a 50% chance in each pregnancy of each child having CMT * ONSET: early childhood * EMG studies show hand (Median) nerve conduction speed greater than 50 metres/sec * CLINICAL SIGNS weakness of hands and feet which may progress to upper limbs, body and face, Diaphragm muscle and vocal cord paralysis with altered voice and shortness of breath, loss of, or reduced tendon reflexes. Sensation loss with no symptoms. * GENETIC Testing is not available CMT Type 2D * GENE DEFECT is on Chromosome 7p14, but the gene is unknown * INHERITANCE: Autosomal Dominant with a 50% chance in each pregnancy of each child having CMT * ONSET: 16 to 30 yrs of age * EMG loss of nerve fibers (axons), nerve conduction speed normal * CLINICAL SIGNS: weakness and sensation loss in arms & legs, no tendon reflexes in arms and reflexes decreased in legs, progression slow over many years * GENETIC Testing is not available CMT Type 2: Ouvrier Type * GENE DEFECT: unknown * INHERITANCE: Autosomal Recessive, both parents must have the gene defect for a child to have CMT * ONSET: early childhood * EMG loss of nerve fibers (axons) * CLINICAL SIGNS: weakness of both feet and lower legs before arms, mild sensation loss, progression slow, severe foot and hand weakness by 20 yrs of age * GENETIC Testing:: not available CMT Type 2 recessive * GENE DEFECT: Chromosome 1q21-q21.3, gene unknown * INHERITANCE: Autosomal Recessive, both parents must have gene defect for the child to have CMT …Moroccan family * ONSET: 10 to 20 years of age * EMG Studies: nerve conduction speed normal, nerve fiber loss with some regeneration. * NERVE increased number of large nerve fibers with myelin sheath * CLINICAL SIGNS: weakness of both feet and both hands, 60% have weakness of upper limbs, progression produces prominent disability, increased tendon reflexes in legs, 80% have high arched feet, 30% have curving of spine both outward and sideways, with upper limb weakness * GENETIC Testing:: not available ================================= I have always stated that I am NOT a medical person. I only know what I read on professional sites and what I hear from other CMT people (and we all know that is subjective). I'm not responsible for anyone's test results or what their doctors tell them. I can only refer people to sites that might be helpful. You know the DNA test didn't help you learn more about your CMT. You need to look on the web for more information, but frankly, there isn't a lot of detail about types. (Not MY choice! I have nothing to do with what information is available.) I can only direct people to sites, but I can't control how helpful the information will be for an individual. Some CMTers want to know more, others don't. As I consistently say about CMT, we are all DIFFERENT! Good luck. Kat Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi Marc, I don't understand what I said that bothers you? Were you the one I asked why you were looking for a type (if so, I distinctly remember adding that I was just curious.) I certainly was not being critical of your interest. Some CMTers say they could NOT care less what type they have, while others go on a mission to learn more. It certainly does not matter to me what another person does. Each person needs to do what suits his or her own agenda or personality. I quote from published sources and I try to stay objective. There would be no point for me to judge or criticise anyone. I find that with e-mail it is impossible to avoid being misunderstood or misinterpreted sometimes. If I offended you I'm sorry. It certainly was not intentional. I'm a naturally curious person. I ask questions so I can better understand the other person, NOT to pass judgement or imply criticism. Have you looked through the lists of types to see where you might fit? I thought I sent you this URL the last time. This site also discusses diagnosing. The author is a medically trained professional who has quite severe CMT. I quote from sites like that, I do NOT make up information out of whole cloth. http://tor-pw1.netcom.ca/~dgosling/cmt/types.html Here is what Type 2 looks like for example (I chose this because is does not show on the genetic test. One of these may fit you. OR, you may be a subtype of 1, or who knows what other type. I can't know.) CMT TYPE 2 (Occurs in approximately 7 per 100,000 population) This is the Axonal or Neuronal Type in which the nerve fiber itself degenerates and there is an increased frequency of Restless Leg Syndrome. GENETIC STUDIES for all forms of Type 2 are limited to linkage analysis to identify the Chromosome affected, the gene has not yet been identified. These studies are only available through specific research projects. CMT Type 2A * GENE DEFECT is found on Chromosome 1 at p 36 but the gene itself has not yet been identified * INHERITANCE: Autosomal Dominant in Tunisian families with a 50% chance in each pregnancy of each child having CMT * ONSET: age 3 to 15 years * EMG Studies: show loss of nerve fibers, slightly slow nerve conduction speed in (median) nerve of hands * CLINICAL SIGNS difficulty walking, climbing stairs and running , weakness in front and back of both feet and both lower legs, with mild sensation loss and loss of reflexes in legs * GENETIC Testing is not available CMT Type 2 B * GENE DEFECT is on Chromosome 3q, the gene has not yet been identified * INHERITANCE: is Autosomal Dominant with a 50% chance in each pregnancy of each child having CMT * ONSET between 10 and 20 yrs of age * EMG Studies show loss of nerve fibers (axonal destruction), often with no response from (sural) sensation nerve in legs, normal or near normal nerve conduction speed * CLINICAL SIGNS sensation loss and weakness in both lower limbs worse than upper limbs, tendon reflexes are normal but reduced at ankles, foot ulcers often occur, no pain. symptoms vary within families from mild to severe * GENETIC Testing is not available CMT Type 2C * GENE DEFECT: gene and chromosome defect are unknown * INHERITANCE: Autosomal Dominant with a 50% chance in each pregnancy of each child having CMT * ONSET: early childhood * EMG studies show hand (Median) nerve conduction speed greater than 50 metres/sec * CLINICAL SIGNS weakness of hands and feet which may progress to upper limbs, body and face, Diaphragm muscle and vocal cord paralysis with altered voice and shortness of breath, loss of, or reduced tendon reflexes. Sensation loss with no symptoms. * GENETIC Testing is not available CMT Type 2D * GENE DEFECT is on Chromosome 7p14, but the gene is unknown * INHERITANCE: Autosomal Dominant with a 50% chance in each pregnancy of each child having CMT * ONSET: 16 to 30 yrs of age * EMG loss of nerve fibers (axons), nerve conduction speed normal * CLINICAL SIGNS: weakness and sensation loss in arms & legs, no tendon reflexes in arms and reflexes decreased in legs, progression slow over many years * GENETIC Testing is not available CMT Type 2: Ouvrier Type * GENE DEFECT: unknown * INHERITANCE: Autosomal Recessive, both parents must have the gene defect for a child to have CMT * ONSET: early childhood * EMG loss of nerve fibers (axons) * CLINICAL SIGNS: weakness of both feet and lower legs before arms, mild sensation loss, progression slow, severe foot and hand weakness by 20 yrs of age * GENETIC Testing:: not available CMT Type 2 recessive * GENE DEFECT: Chromosome 1q21-q21.3, gene unknown * INHERITANCE: Autosomal Recessive, both parents must have gene defect for the child to have CMT …Moroccan family * ONSET: 10 to 20 years of age * EMG Studies: nerve conduction speed normal, nerve fiber loss with some regeneration. * NERVE increased number of large nerve fibers with myelin sheath * CLINICAL SIGNS: weakness of both feet and both hands, 60% have weakness of upper limbs, progression produces prominent disability, increased tendon reflexes in legs, 80% have high arched feet, 30% have curving of spine both outward and sideways, with upper limb weakness * GENETIC Testing:: not available ================================= I have always stated that I am NOT a medical person. I only know what I read on professional sites and what I hear from other CMT people (and we all know that is subjective). I'm not responsible for anyone's test results or what their doctors tell them. I can only refer people to sites that might be helpful. You know the DNA test didn't help you learn more about your CMT. You need to look on the web for more information, but frankly, there isn't a lot of detail about types. (Not MY choice! I have nothing to do with what information is available.) I can only direct people to sites, but I can't control how helpful the information will be for an individual. Some CMTers want to know more, others don't. As I consistently say about CMT, we are all DIFFERENT! Good luck. Kat Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi Theresa, Thanks for the very helpful response to Marc's questions. We are indeed all in this together, and we can all be on the same team. Kat >^,^< Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi Theresa, Thanks for the very helpful response to Marc's questions. We are indeed all in this together, and we can all be on the same team. Kat >^,^< Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Yikes! I really did not mean to come off as strong as I apparently did. Sorry. It's just a subject that I have been struggling with in myself. I have no hard feeling toward anyone here. I guess I was just using the subject to raise some concerns of my own. I don't have any very clear family history, although as I've mentioned elsewhere, there are suspicions. So much denial and anger existed in my family about this CMT and I was the recipient. I won't burden you with the sordid details, but I caused me loss of pain. I was told to just get on with my life. But it was hard. Where exactly was I get on FROM? I don't know if anyone can relate... But it is not you with whom my issue lies. Please do not think that. I am sorry if it sounded that way. I guess I'm a bit raw there. Thank you for the additional info, it helps. Peace, Marc Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Yikes! I really did not mean to come off as strong as I apparently did. Sorry. It's just a subject that I have been struggling with in myself. I have no hard feeling toward anyone here. I guess I was just using the subject to raise some concerns of my own. I don't have any very clear family history, although as I've mentioned elsewhere, there are suspicions. So much denial and anger existed in my family about this CMT and I was the recipient. I won't burden you with the sordid details, but I caused me loss of pain. I was told to just get on with my life. But it was hard. Where exactly was I get on FROM? I don't know if anyone can relate... But it is not you with whom my issue lies. Please do not think that. I am sorry if it sounded that way. I guess I'm a bit raw there. Thank you for the additional info, it helps. Peace, Marc Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi Marc, Peggie here. I can hear what you are saying loud and clear.... but for me personally - it really doesn't make any difference what type I have. Hell, they didn't have any " types " when I was diagnosed..... and since there is nothing to be done about any of the types anyway...... I wouldn't spend the money on the test. That is just me. I can't stand doctors, and don't want to give them anymore of my money then I have to. And, since they can only diagnose two types of CMT, the odds are against you for finding out anyway...... But, I do know that every one feels differently, and that's OK. If, it should relieve your mind - then go for the test!!!! I just don't care what type I have. But, understand too, that CMT is all through my family, and so, didn't really need a diagnoses as already knew.... But peace of mind can be worth lots!! Have a good day. Re: DNA tests > > > > From: KathleenLS@... > > > > > > In a message dated 1/20/00 11:39:18 PM, > Rose-Marie.Isakson@... > > writes: > > > > << Me and my older son have done the EMG-test, we were slow. The doctors > seem > > > > to be quite convinced that it is CMT1A we all have. >> > > > > >From my understanding then, your doctor is correct that the DNA test is > not > > needed. It is for diagnosing and you have already been diagnosed. The DNA > > test would NOT help with management, treatment, and so forth. It is a > label. > > > > Regards, > > Kat > > > > --------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi Marc, Peggie here. I can hear what you are saying loud and clear.... but for me personally - it really doesn't make any difference what type I have. Hell, they didn't have any " types " when I was diagnosed..... and since there is nothing to be done about any of the types anyway...... I wouldn't spend the money on the test. That is just me. I can't stand doctors, and don't want to give them anymore of my money then I have to. And, since they can only diagnose two types of CMT, the odds are against you for finding out anyway...... But, I do know that every one feels differently, and that's OK. If, it should relieve your mind - then go for the test!!!! I just don't care what type I have. But, understand too, that CMT is all through my family, and so, didn't really need a diagnoses as already knew.... But peace of mind can be worth lots!! Have a good day. Re: DNA tests > > > > From: KathleenLS@... > > > > > > In a message dated 1/20/00 11:39:18 PM, > Rose-Marie.Isakson@... > > writes: > > > > << Me and my older son have done the EMG-test, we were slow. The doctors > seem > > > > to be quite convinced that it is CMT1A we all have. >> > > > > >From my understanding then, your doctor is correct that the DNA test is > not > > needed. It is for diagnosing and you have already been diagnosed. The DNA > > test would NOT help with management, treatment, and so forth. It is a > label. > > > > Regards, > > Kat > > > > --------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi Marc, You said--want to know exactly what it is I have.>> I know you realize that only 3 types of CMT can be DEFINITELY diagnosed by DNA blood tests--1A, 1X, and HNPP. With the rest, what the doctor relies on are tests--for instance, a nerve conduction study. If it is slow, then you are separated into a few less categories. If normal, another. Many times, they do all kinds of tests, many of which are negative, so that might mean you don't have MS, etc. By elimination (after testing) the doctors slowly start to put together all your symptoms, along with positive testing. I think of it as a " mystery symptom " --and the doctors look for " clues " -i.e.-that test was negative, so that strikes out that disease. Kat mentioned that some forms are now known to be on a certain chromosone, but they still don't know on what gene within that chromosone (there are hundred of genes on each). Researchers are working to pinpoint that gene, which might take years. DNA testing is very sophisticated, and lengthy, which is why it is so costly--$450-500. I understand your frustration, and hopefully, in the not too distant future, CMT types will be recognized easily. In the meantime, use the CMT sites for information--you are one of those who wants to know, and that is good. When I was diagnosed in the 60's by an orthopedic dr., my family physician said he had never heard of it, and I appreciated his honesty. Do you realize all the new science in the last few years, which our doctors are expected to assimilate? Hanf in there--we're all in this together. Theresa ________________________________________________________________ YOU'RE PAYING TOO MUCH FOR THE INTERNET! Juno now offers FREE Internet Access! Try it today - there's no risk! For your FREE software, visit: http://dl.www.juno.com/get/tagj. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi Marc, You said--want to know exactly what it is I have.>> I know you realize that only 3 types of CMT can be DEFINITELY diagnosed by DNA blood tests--1A, 1X, and HNPP. With the rest, what the doctor relies on are tests--for instance, a nerve conduction study. If it is slow, then you are separated into a few less categories. If normal, another. Many times, they do all kinds of tests, many of which are negative, so that might mean you don't have MS, etc. By elimination (after testing) the doctors slowly start to put together all your symptoms, along with positive testing. I think of it as a " mystery symptom " --and the doctors look for " clues " -i.e.-that test was negative, so that strikes out that disease. Kat mentioned that some forms are now known to be on a certain chromosone, but they still don't know on what gene within that chromosone (there are hundred of genes on each). Researchers are working to pinpoint that gene, which might take years. DNA testing is very sophisticated, and lengthy, which is why it is so costly--$450-500. I understand your frustration, and hopefully, in the not too distant future, CMT types will be recognized easily. In the meantime, use the CMT sites for information--you are one of those who wants to know, and that is good. When I was diagnosed in the 60's by an orthopedic dr., my family physician said he had never heard of it, and I appreciated his honesty. Do you realize all the new science in the last few years, which our doctors are expected to assimilate? Hanf in there--we're all in this together. Theresa ________________________________________________________________ YOU'RE PAYING TOO MUCH FOR THE INTERNET! Juno now offers FREE Internet Access! Try it today - there's no risk! For your FREE software, visit: http://dl.www.juno.com/get/tagj. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Thanks for your words. I know. Some days are better than others. M Re: DNA tests > > > Hi Marc, > > You said--want to know > exactly what it is I have.>> > > I know you realize that only 3 types of CMT can be DEFINITELY diagnosed > by DNA blood tests--1A, 1X, and HNPP. > > With the rest, what the doctor relies on are tests--for instance, a nerve > conduction study. If it is slow, then you are separated into a few less > categories. If normal, another. Many times, they do all kinds of tests, > many of which are negative, so that might mean you don't have MS, etc. By > elimination (after testing) the doctors slowly start to put together all > your symptoms, along with positive testing. I think of it as a " mystery > symptom " --and the doctors look for " clues " -i.e.-that test was negative, > so that strikes out that disease. > > Kat mentioned that some forms are now known to be on a certain > chromosone, but they still don't know on what gene within that chromosone > (there are hundred of genes on each). Researchers are working to > pinpoint that gene, which might take years. DNA testing is very > sophisticated, and lengthy, which is why it is so costly--$450-500. > > I understand your frustration, and hopefully, in the not too distant > future, CMT types will be recognized easily. In the meantime, use the CMT > sites for information--you are one of those who wants to know, and that > is good. When I was diagnosed in the 60's by an orthopedic dr., my > family physician said he had never heard of it, and I appreciated his > honesty. Do you realize all the new science in the last few years, which > our doctors are expected to assimilate? > > Hanf in there--we're all in this together. > Theresa > ________________________________________________________________ > YOU'RE PAYING TOO MUCH FOR THE INTERNET! > Juno now offers FREE Internet Access! > Try it today - there's no risk! For your FREE software, visit: > http://dl.www.juno.com/get/tagj. > > --------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Thanks for your words. I know. Some days are better than others. M Re: DNA tests > > > Hi Marc, > > You said--want to know > exactly what it is I have.>> > > I know you realize that only 3 types of CMT can be DEFINITELY diagnosed > by DNA blood tests--1A, 1X, and HNPP. > > With the rest, what the doctor relies on are tests--for instance, a nerve > conduction study. If it is slow, then you are separated into a few less > categories. If normal, another. Many times, they do all kinds of tests, > many of which are negative, so that might mean you don't have MS, etc. By > elimination (after testing) the doctors slowly start to put together all > your symptoms, along with positive testing. I think of it as a " mystery > symptom " --and the doctors look for " clues " -i.e.-that test was negative, > so that strikes out that disease. > > Kat mentioned that some forms are now known to be on a certain > chromosone, but they still don't know on what gene within that chromosone > (there are hundred of genes on each). Researchers are working to > pinpoint that gene, which might take years. DNA testing is very > sophisticated, and lengthy, which is why it is so costly--$450-500. > > I understand your frustration, and hopefully, in the not too distant > future, CMT types will be recognized easily. In the meantime, use the CMT > sites for information--you are one of those who wants to know, and that > is good. When I was diagnosed in the 60's by an orthopedic dr., my > family physician said he had never heard of it, and I appreciated his > honesty. Do you realize all the new science in the last few years, which > our doctors are expected to assimilate? > > Hanf in there--we're all in this together. > Theresa > ________________________________________________________________ > YOU'RE PAYING TOO MUCH FOR THE INTERNET! > Juno now offers FREE Internet Access! > Try it today - there's no risk! For your FREE software, visit: > http://dl.www.juno.com/get/tagj. > > --------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi Marc. Peggie here. I didn't think you came on that strong - just thought you were trying to sort it out for yourself and asking for a little help in doing so!!! I thought that was what this list was all about!!! I suspect that most of the people on this list can very much relate to your family not owning up to CMT. Over half of my family will still not discuss it. My father wouldn't talk about it even when I was in a wheel chair unable to walk. But, it was the way they were raised - handicapped were still hidden in the closet and certainly not discussed. And, a lot of this is still held over even today. My father finally got more comfortable talking about it, but he still was " disgraced " as he was handicapped. It's just not something a lot of people can handle. A lot of it, was the guilt he felt in giving the disease to me, and my sister. But, we all have to live with something - could be worse then CMT. I know, some days, it doesn't seem like anything can be worse, but, believe me, there is!!! I always felt real bad because my Dad wouldn't talk about CMT, but,. as I got older, realized he just wasn't able to, due to the way he was raised. And I had to much living to do to worry about it for long.... I know this is scary.... and that is why, it really is so much easier on ourselves just to take one day, or one hour at a time!!!!! To look at it for the rest of your life, trying to figure out how you will end up, is real scary. But, just because some people are in a wheelchair, doesn't mean I will be! It's so very different even in the same families. I have one cousin that has decided that he doesn't have CMT - he has symptoms from Agent Orange!!! (That's cause he can get more money out of the government!) But, I feel this as an affront to me - and my CMT. Do you know what I mean? But it happens a lot.... besides - Agent Orange would be a lot easier to explain and except!!! Take care and have a good evening!! Re: DNA tests > > > Yikes! I really did not mean to come off as strong as I apparently did. > Sorry. It's just a subject that I have been struggling with in myself. I > have no hard feeling toward anyone here. I guess I was just using the > subject to raise some concerns of my own. I don't have any very clear family > history, although as I've mentioned elsewhere, there are suspicions. So much > denial and anger existed in my family about this CMT and I was the > recipient. I won't burden you with the sordid details, but I caused me loss > of pain. I was told to just get on with my life. But it was hard. Where > exactly was I get on FROM? I don't know if anyone can relate... > > But it is not you with whom my issue lies. Please do not think that. I am > sorry if it sounded that way. I guess I'm a bit raw there. Thank you for the > additional info, it helps. > Peace, > Marc > > > --------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi Marc. Peggie here. I didn't think you came on that strong - just thought you were trying to sort it out for yourself and asking for a little help in doing so!!! I thought that was what this list was all about!!! I suspect that most of the people on this list can very much relate to your family not owning up to CMT. Over half of my family will still not discuss it. My father wouldn't talk about it even when I was in a wheel chair unable to walk. But, it was the way they were raised - handicapped were still hidden in the closet and certainly not discussed. And, a lot of this is still held over even today. My father finally got more comfortable talking about it, but he still was " disgraced " as he was handicapped. It's just not something a lot of people can handle. A lot of it, was the guilt he felt in giving the disease to me, and my sister. But, we all have to live with something - could be worse then CMT. I know, some days, it doesn't seem like anything can be worse, but, believe me, there is!!! I always felt real bad because my Dad wouldn't talk about CMT, but,. as I got older, realized he just wasn't able to, due to the way he was raised. And I had to much living to do to worry about it for long.... I know this is scary.... and that is why, it really is so much easier on ourselves just to take one day, or one hour at a time!!!!! To look at it for the rest of your life, trying to figure out how you will end up, is real scary. But, just because some people are in a wheelchair, doesn't mean I will be! It's so very different even in the same families. I have one cousin that has decided that he doesn't have CMT - he has symptoms from Agent Orange!!! (That's cause he can get more money out of the government!) But, I feel this as an affront to me - and my CMT. Do you know what I mean? But it happens a lot.... besides - Agent Orange would be a lot easier to explain and except!!! Take care and have a good evening!! Re: DNA tests > > > Yikes! I really did not mean to come off as strong as I apparently did. > Sorry. It's just a subject that I have been struggling with in myself. I > have no hard feeling toward anyone here. I guess I was just using the > subject to raise some concerns of my own. I don't have any very clear family > history, although as I've mentioned elsewhere, there are suspicions. So much > denial and anger existed in my family about this CMT and I was the > recipient. I won't burden you with the sordid details, but I caused me loss > of pain. I was told to just get on with my life. But it was hard. Where > exactly was I get on FROM? I don't know if anyone can relate... > > But it is not you with whom my issue lies. Please do not think that. I am > sorry if it sounded that way. I guess I'm a bit raw there. Thank you for the > additional info, it helps. > Peace, > Marc > > > --------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 I want to know what type of CMT I have to for the simple reason if it is any of the ones that can be diagnosed then members of my family can be tested with a certain blood test and know at the time if they have it or not and my son and my cousins children and my nephew can choose to have or not to have children. I feel the same about anything genetic. My son and husband are both bipolar and my son was just diagnosed this last year and the statistics show if there is a strong history of mood disorders and alcoholism to look for it instead of necessarily say ADHD which he also has, but I do want to and it makes all the difference in the world to me what type it may or may not be. I have enough chronic problems that I can't control and some things I wish I had a better handle on and that is the type of CMT I carry. Just my opinion Donna Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 I want to know what type of CMT I have to for the simple reason if it is any of the ones that can be diagnosed then members of my family can be tested with a certain blood test and know at the time if they have it or not and my son and my cousins children and my nephew can choose to have or not to have children. I feel the same about anything genetic. My son and husband are both bipolar and my son was just diagnosed this last year and the statistics show if there is a strong history of mood disorders and alcoholism to look for it instead of necessarily say ADHD which he also has, but I do want to and it makes all the difference in the world to me what type it may or may not be. I have enough chronic problems that I can't control and some things I wish I had a better handle on and that is the type of CMT I carry. Just my opinion Donna Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 I want to know what type of CMT I have to for the simple reason if it is any of the ones that can be diagnosed then members of my family can be tested with a certain blood test and know at the time if they have it or not and my son and my cousins children and my nephew can choose to have or not to have children. I feel the same about anything genetic. My son and husband are both bipolar and my son was just diagnosed this last year and the statistics show if there is a strong history of mood disorders and alcoholism to look for it instead of necessarily say ADHD which he also has, but I do want to and it makes all the difference in the world to me what type it may or may not be. I have enough chronic problems that I can't control and some things I wish I had a better handle on and that is the type of CMT I carry. Just my opinion Donna Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 24, 2000 Report Share Posted January 24, 2000 In a message dated 1/22/00 10:18:29 PM Pacific Standard Time, dcalahan@... writes: << I have enough chronic problems that I can't control and some things I wish I had a better handle on and that is the type of CMT I carry. Just my opinion Donna >> I hear ya Donna Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 24, 2000 Report Share Posted January 24, 2000 In a message dated 1/22/00 10:18:29 PM Pacific Standard Time, dcalahan@... writes: << I have enough chronic problems that I can't control and some things I wish I had a better handle on and that is the type of CMT I carry. Just my opinion Donna >> I hear ya Donna Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.