Guest guest Posted August 4, 2001 Report Share Posted August 4, 2001 Wow..that article was really hard to understand with all the medical terminology. I am very interested in what that all meant, because that is the exact type of CMT that we have in our family...and, for me it is particularly informative because my 5 year old son started showing the disease at infancy and could be in a wheel chair within the next five years...if anyone can translate what that all meant...it would be greatly appreciated. Thanks to you all for everything...Tana Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 5, 2001 Report Share Posted August 5, 2001 That article says that in X-linked CMT the first structure to be defective (bad) is MYELIN, not the axon. The axon degenerates as a consequence of the myelin defect, not because the axon was wrong itself. This was already well-known, because X-linked CMT is due to defective myelin protein called connexin32: the authors of that article just demonstrated it again by biopsies on 8 people. About your 5 year old son, I am sure he will never be in a wheelchair: in my large CMT population, no CMTX is in a wheelchair. And in the future there will be a gene therapy to stop the disease. Paolo Vinci, MD ----- Original Message ----- From: <ann9055@...> < > Sent: Saturday, August 04, 2001 6:32 PM Subject: Re: [] X-linked CMT Article > Wow..that article was really hard to understand with all the medical > terminology. I am very interested in what that all meant, because that is > the exact type of CMT that we have in our family...and, for me it is > particularly informative because my 5 year old son started showing the > disease at infancy and could be in a wheel chair within the next five > years...if anyone can translate what that all meant...it would be greatly > appreciated. Thanks to you all for everything...Tana > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 5, 2001 Report Share Posted August 5, 2001 Dr. Paolo Vinci, Lamar here, That may be the symptomology that you have observed but I assure you many with CMTX are in wheelchairs, including some " symptomatic carriers " While the CMT in my large family has never been classified as to type and is not CMTX), I was told at the age of 35 that " You MAY need to use a cane by the time you are in your 70's " by the MDA neurologist that diagnosed me. I was in an AFO by my mid 40's, used a cane by my late 40's, and now can only walk very short distances with a cane or walker. An electric wheelchair has been ordered. I am 53. Many articles still say CMT is seldom severely handicapping, and is not life threatening, but many cases show that it can be both. In my family well over 50% follow the pattern I have, and most of them progress to the point that they can not even transfer from a wheelchair to bed without assistance. Yet some show only mild symptoms for life, and some require adaptive devices in childhood. Available DNA testing has been negative, NCV's are only slightly slow but show , " Abnormalities compatible with a mixed sensory-motor polyneuropathy, having both axonal and demyelinating characteristics " Biopsy patterns are fairly uniform to: " There is a severe loss of large diameter myelinated fibers but only a mild loss of small fibers. Many of the fibers have abnormally thin myelin sheaths, and a few of them are part of small onion bulbs. Regenerative clusters of small myelinated fibers are excessive. 56 teased myelinated fibers were evaluated. 38 of the fibers have increased variation of internodal lengths consistent with segmental remyelination. 4 of the myelinated fibers are normal; 3 show uniformly shortened internodes; 1 displays axonal degeneration as reflected as a series of myelin ovoids; and 10 fibers are each closely intertwined with another myelinated fibers, hindering measurement of internodal lengths. Diagnosis: Peripheral neuropathy (left sural, biopsy), chronic, moderately severe with mixed features of axonal degeneration and segmental remyelination. Comment: The nerve biopsy specimen demonstrates evidence of segmental remyelination in 68% of the teased myelinated fibers. This value and the semithin plastic sections support a chronic demyelinating neuropathy. The findings are consistent with hereditary motor sensory neuropathies (CMT). The abnormalities favor the demyelinating type (HMSN, type 1) over HMSN, type II, despite the reported normal values for motor conduction velocities. " It is well known that CMT differs greatly in the extent and rate of progression with all types, even within families. It has been shown that identical twins with the same genetic makeup, experience these differences. With all due respect to your credentials and experience, my 30 years as a mental health professional make me question if it is psychologically wise to make the statement you are sure that a child will not require a wheelchair, when in fact no person has been able to accurately predict the rate or extent of progression other than it seems to be a pattern of exacerbation and plateaus. Likewise it is unwise to say that any person will have severe progression. The glimmer of hope is what keeps many of us going, but to state they will not need a wheelchair can possibly lead to a big psychological blow IF the individual does. Many of my own life choices would have been different had the physician been realistic and not assured me that my mild symptoms at 35 would not markedly and rapidly progress. I denied the progression as long as I could, but it rapidly reached the point I could no longer deny it. I was faced with a sudden change in what I could do while experiencing a loss of the primary stress reducing (coping) mechanisms I had always found to work for me. Me being unable to continue the work I loved due to the potential hazards to my patients, my co-workers, and myself added to this. Depression followed. I am not saying that had the doctors not assured me otherwise, these life changes would have been easier, BUT if they had said, " We don't know, you may experience only mild symptoms, but you may have marked and crippling progression, " I would have been better prepared to face what I have to. As for gene therapy, we all cling to the hope that answers will be found. But at the same time we must admit that no one knows with certainty when or if they will be found and approved for use. If the answer is in gene therapy (which it well may be) I would think that something to either slow or prevent progression would come well before something that would reverse existing damage. Remember, they once said Penicillin would make infections a thing of the past. I cling to the hope that gene therapy or some other modality will be found to make the life of future generations easier, but at the age of 53 I must realize that it is highly unlikely that a discovery will be made and become available in my natural lifetime that will be of marked benefit for me as an individual. I do feel answers will come. I am not willing to even guess if they will be 5 years, 10 years, 20 years, 50 years, etc. down the line. Again, I highly respect you and your work, but feel that the assurances you gave MAY have been overly optimistic and possibly leading to increased emotional trauma should this or any individual experience a marked progression of CMT. The problems that man of us in America have faced for years has been that most physicians still say that CMT is only mildly handicapping, does not cause extensive pain, and is never life threatening. ----- Original Message ----- From: Paolo Vinci Sent: Sunday, August 05, 2001 09:12 AM Subject: Re: [] X-linked CMT Article That article says that in X-linked CMT the first structure to be defective (bad) is MYELIN, not the axon. The axon degenerates as a consequence of the myelin defect, not because the axon was wrong itself. This was already well-known, because X-linked CMT is due to defective myelin protein called connexin32: the authors of that article just demonstrated it again by biopsies on 8 people. About your 5 year old son, I am sure he will never be in a wheelchair: in my large CMT population, no CMTX is in a wheelchair. And in the future there will be a gene therapy to stop the disease. Paolo Vinci, MD ----- Original Message ----- From: <ann9055@...> < > Sent: Saturday, August 04, 2001 6:32 PM Subject: Re: [] X-linked CMT Article > Wow..that article was really hard to understand with all the medical > terminology. I am very interested in what that all meant, because that is > the exact type of CMT that we have in our family...and, for me it is > particularly informative because my 5 year old son started showing the > disease at infancy and could be in a wheel chair within the next five > years...if anyone can translate what that all meant...it would be greatly > appreciated. Thanks to you all for everything...Tana > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 5, 2001 Report Share Posted August 5, 2001 -----Original Message----- From: Lamar son <lls@...> < > Date: Sunday, August 05, 2001 11:57 AM Subject: Re: [] X-linked CMT Article >>>>Thanks Lamar, what you said was what I was going to say to Paolo about his statement to Tana about her son. Never say never! I cannot see how CMT can be so different in Italy then it is here can you? I went from very active to these braces (full leg) in 3 years! Talk about a blow! I was told CMT has " SLOW " progression and I might need walking aides in my elder years! (as the Dr. hands me a script for a cane~) No one can predict how CMT will progress. Even Dr's. Dr's have a tendency to want to assure a worried patient and that's great, however, tell the patient what Could happen, then tell the patient that many many CMTer's never have those things happen, and as hard as it is to say and for the patient to accept, say we have to just wait and see. And I do hate the wait and see part, but its the truth and thats better than false hope. Being prepared for anything is a better way of life, ~>Becky M. Dr. Paolo Vinci, Lamar here, That may be the symptomology that you have observed but I assure you many with CMTX are in wheelchairs, including some " symptomatic carriers " While the CMT in my large family has never been classified as to type and is not CMTX), I was told at the age of 35 that " You MAY need to use a cane by the time you are in your 70's " by the MDA neurologist that diagnosed me. I was in an AFO by my mid 40's, used a cane by my late 40's, and now can only walk very short distances with a cane or walker. An electric wheelchair has been ordered. I am 53. Many articles still say CMT is seldom severely handicapping, and is not life threatening, but many cases show that it can be both. In my family well over 50% follow the pattern I have, and most of them progress to the point that they can not even transfer from a wheelchair to bed without assistance. Yet some show only mild symptoms for life, and some require adaptive devices in childhood. Available DNA testing has been negative, NCV's are only slightly slow but show , " Abnormalities compatible with a mixed sensory-motor polyneuropathy, having both axonal and demyelinating characteristics " Biopsy patterns are fairly uniform to: " There is a severe loss of large diameter myelinated fibers but only a mild loss of small fibers. Many of the fibers have abnormally thin myelin sheaths, and a few of them are part of small onion bulbs. Regenerative clusters of small myelinated fibers are excessive. 56 teased myelinated fibers were evaluated. 38 of the fibers have increased variation of internodal lengths consistent with segmental remyelination. 4 of the myelinated fibers are normal; 3 show uniformly shortened internodes; 1 displays axonal degeneration as reflected as a series of myelin ovoids; and 10 fibers are each closely intertwined with another myelinated fibers, hindering measurement of internodal lengths. Diagnosis: Peripheral neuropathy (left sural, biopsy), chronic, moderately severe with mixed features of axonal degeneration and segmental remyelination. Comment: The nerve biopsy specimen demonstrates evidence of segmental remyelination in 68% of the teased myelinated fibers. This value and the semithin plastic sections support a chronic demyelinating neuropathy. The findings are consistent with hereditary motor sensory neuropathies (CMT). The abnormalities favor the demyelinating type (HMSN, type 1) over HMSN, type II, despite the reported normal values for motor conduction velocities. " It is well known that CMT differs greatly in the extent and rate of progression with all types, even within families. It has been shown that identical twins with the same genetic makeup, experience these differences. With all due respect to your credentials and experience, my 30 years as a mental health professional make me question if it is psychologically wise to make the statement you are sure that a child will not require a wheelchair, when in fact no person has been able to accurately predict the rate or extent of progression other than it seems to be a pattern of exacerbation and plateaus. Likewise it is unwise to say that any person will have severe progression. The glimmer of hope is what keeps many of us going, but to state they will not need a wheelchair can possibly lead to a big psychological blow IF the individual does. Many of my own life choices would have been different had the physician been realistic and not assured me that my mild symptoms at 35 would not markedly and rapidly progress. I denied the progression as long as I could, but it rapidly reached the point I could no longer deny it. I was faced with a sudden change in what I could do while experiencing a loss of the primary stress reducing (coping) mechanisms I had always found to work for me. Me being unable to continue the work I loved due to the potential hazards to my patients, my co-workers, and myself added to this. Depression followed. I am not saying that had the doctors not assured me otherwise, these life changes would have been easier, BUT if they had said, " We don't know, you may experience only mild symptoms, but you may have marked and crippling progression, " I would have been better prepared to face what I have to. As for gene therapy, we all cling to the hope that answers will be found. But at the same time we must admit that no one knows with certainty when or if they will be found and approved for use. If the answer is in gene therapy (which it well may be) I would think that something to either slow or prevent progression would come well before something that would reverse existing damage. Remember, they once said Penicillin would make infections a thing of the past. I cling to the hope that gene therapy or some other modality will be found to make the life of future generations easier, but at the age of 53 I must realize that it is highly unlikely that a discovery will be made and become available in my natural lifetime that will be of marked benefit for me as an individual. I do feel answers will come. I am not willing to even guess if they will be 5 years, 10 years, 20 years, 50 years, etc. down the line. Again, I highly respect you and your work, but feel that the assurances you gave MAY have been overly optimistic and possibly leading to increased emotional trauma should this or any individual experience a marked progression of CMT. The problems that man of us in America have faced for years has been that most physicians still say that CMT is only mildly handicapping, does not cause extensive pain, and is never life threatening. ----- Original Message ----- From: Paolo Vinci Sent: Sunday, August 05, 2001 09:12 AM Subject: Re: [] X-linked CMT Article That article says that in X-linked CMT the first structure to be defective (bad) is MYELIN, not the axon. The axon degenerates as a consequence of the myelin defect, not because the axon was wrong itself. This was already well-known, because X-linked CMT is due to defective myelin protein called connexin32: the authors of that article just demonstrated it again by biopsies on 8 people. About your 5 year old son, I am sure he will never be in a wheelchair: in my large CMT population, no CMTX is in a wheelchair. And in the future there will be a gene therapy to stop the disease. Paolo Vinci, MD ----- Original Message ----- From: <ann9055@...> < > Sent: Saturday, August 04, 2001 6:32 PM Subject: Re: [] X-linked CMT Article > Wow..that article was really hard to understand with all the medical > terminology. I am very interested in what that all meant, because that is > the exact type of CMT that we have in our family...and, for me it is > particularly informative because my 5 year old son started showing the > disease at infancy and could be in a wheel chair within the next five > years...if anyone can translate what that all meant...it would be greatly > appreciated. Thanks to you all for everything...Tana > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 6, 2001 Report Share Posted August 6, 2001 Dear Lamar, why are you so pessimist? Don't you think that saying anybody that he will be in a wheelchair in few years means that he will undergo inevitable depression? Or, in case of children, the parents will undergo depression! Better a positive message! Especially if the possibility to need a wheelchair is minimal. When I was a boy, my parents were told that I was going to be in a wheelchair at the age of 18. My mother got depressed and needed medications. Fortunately I reacted positively and did not care. When I worsened, ten years ago, I realized what the causes were (obesity, wrong footwear) and corrected them: so I could COMPENSATE for the progressive reduction in muscle strength. Now, I am still able to walk without a stick. Doctors can be wrong with diagnosis: I was diagnosed with a variant of Lou-Gerig disease (a very bad motor neuron disease) by an eminent professor: I would not be here if I had it. I see that you have not yet been diagnosed definitevely as to type and subtype; and that you do not have CMTX, at least not the form due to connexin32. If your nerve conduction velocities are quite normal, you might have a CMT2, which can be more severe than most CMT1 cases. In addition many CMT2 cases present an associated involvement of the central nerve system, with muscle stiffness and spasms, or other signs which worsen the peripheral neuropathy (CMT). There are CMT1 mutations (e.g. P0 124 mutation) and some CMT2 forms (like mine) that can cause severe muscle loss in the lower limbs, with need of long braces or a wheelchair. There are also recessive forms, which are severe. To further complicate the issue, the need of a wheelchair may be due to personal (obesity, depression, accidental falls, and so on) and environmental factors I am studying in order to eliminate them. I just would like to tell you that, 4 years ago, a nice 14 y.o. girl enter my examination room in a wheelchair pushed by her mother. She has CMT 2. She had been told by my chief that it was better if she did not walk (The less you walk, the better it is!). It was not easy to visit her, because she was very depressed and refused any help. She told me that she had NO FUTURE. I think that, if I too had not had a CMT, she would have never accepted to undergo rehab. I visited her: she oscillated and had pain when she stood up for longer than few seconds. But I found that she had strong quadriceps and glutei muscles! The reason for her pains was a biomechanical problem in her feet, where an excessive achilles tendon lengthening had been performed. I corrected her problem by proper wedges and boots. And she could stand for longer than 10 minutes without oscillations and pain. Now she is 18. I saw her last month. She walks quite well. She is positive about her future. This year she will go to the university by public means of transportation. Was her wheelchair really necessary? About gene therapy too, why are you so pessimist? In the fifties, many people died from tubercolosis. Then a drug was found and they lived... they are still alive and become old. See you. Paolo ----- Original Message ----- From: Lamar son <lls@...> < > Sent: Sunday, August 05, 2001 7:04 PM Subject: Re: [] X-linked CMT Article > Dr. Paolo Vinci, > Lamar here, > > That may be the symptomology that you have observed but I assure you many > with CMTX are in wheelchairs, including some " symptomatic carriers " While > the CMT in my large family has never been classified as to type and is not > CMTX), I was told at the age of 35 that " You MAY need to use a cane by the > time you are in your 70's " by the MDA neurologist that diagnosed me. I was > in an AFO by my mid 40's, used a cane by my late 40's, and now can only walk > very short distances with a cane or walker. An electric wheelchair has been > ordered. I am 53. Many articles still say CMT is seldom severely > handicapping, and is not life threatening, but many cases show that it can > be both. > > In my family well over 50% follow the pattern I have, and most of them > progress to the point that they can not even transfer from a wheelchair to > bed without assistance. Yet some show only mild symptoms for life, and some > require adaptive devices in childhood. Available DNA testing has been > negative, NCV's are only slightly slow but show , " Abnormalities compatible > with a mixed sensory-motor polyneuropathy, having both axonal and > demyelinating characteristics " Biopsy patterns are fairly uniform to: > " There is a severe loss of large diameter myelinated fibers but only a mild > loss of small fibers. Many of the fibers have abnormally thin myelin > sheaths, and a few of them are part of small onion bulbs. Regenerative > clusters of small myelinated fibers are excessive. 56 teased myelinated > fibers were evaluated. 38 of the fibers have increased variation of > internodal lengths consistent with segmental remyelination. 4 of the > myelinated fibers are normal; 3 show uniformly shortened internodes; 1 > displays axonal degeneration as reflected as a series of myelin ovoids; and > 10 fibers are each closely intertwined with another myelinated fibers, > hindering measurement of internodal lengths. > Diagnosis: Peripheral neuropathy (left sural, biopsy), chronic, moderately > severe with mixed features of axonal degeneration and segmental > remyelination. > Comment: The nerve biopsy specimen demonstrates evidence of segmental > remyelination in 68% of the teased myelinated fibers. This value and the > semithin plastic sections support a chronic demyelinating neuropathy. The > findings are consistent with hereditary motor sensory neuropathies (CMT). > The abnormalities favor the demyelinating type (HMSN, type 1) over HMSN, > type II, despite the reported normal values for motor conduction > velocities. " > > It is well known that CMT differs greatly in the extent and rate of > progression with all types, even within families. It has been shown that > identical twins with the same genetic makeup, experience these differences. > With all due respect to your credentials and experience, my 30 years as a > mental health professional make me question if it is psychologically wise to > make the statement you are sure that a child will not require a wheelchair, > when in fact no person has been able to accurately predict the rate or > extent of progression other than it seems to be a pattern of exacerbation > and plateaus. Likewise it is unwise to say that any person will have severe > progression. The glimmer of hope is what keeps many of us going, but to > state they will not need a wheelchair can possibly lead to a big > psychological blow IF the individual does. Many of my own life choices > would have been different had the physician been realistic and not assured > me that my mild symptoms at 35 would not markedly and rapidly progress. I > denied the progression as long as I could, but it rapidly reached the point > I could no longer deny it. I was faced with a sudden change in what I could > do while experiencing a loss of the primary stress reducing (coping) > mechanisms I had always found to work for me. Me being unable to continue > the work I loved due to the potential hazards to my patients, my co-workers, > and myself added to this. Depression followed. > > I am not saying that had the doctors not assured me otherwise, these life > changes would have been easier, BUT if they had said, " We don't know, you > may experience only mild symptoms, but you may have marked and crippling > progression, " I would have been better prepared to face what I have to. > > As for gene therapy, we all cling to the hope that answers will be found. > But at the same time we must admit that no one knows with certainty when or > if they will be found and approved for use. If the answer is in gene > therapy (which it well may be) I would think that something to either slow > or prevent progression would come well before something that would reverse > existing damage. Remember, they once said Penicillin would make infections > a thing of the past. I cling to the hope that gene therapy or some other > modality will be found to make the life of future generations easier, but at > the age of 53 I must realize that it is highly unlikely that a discovery > will be made and become available in my natural lifetime that will be of > marked benefit for me as an individual. I do feel answers will come. I am > not willing to even guess if they will be 5 years, 10 years, 20 years, 50 > years, etc. down the line. > > Again, I highly respect you and your work, but feel that the assurances you > gave MAY have been overly optimistic and possibly leading to increased > emotional trauma should this or any individual experience a marked > progression of CMT. The problems that man of us in America have faced for > years has been that most physicians still say that CMT is only mildly > handicapping, does not cause extensive pain, and is never life threatening. > ----- Original Message ----- > From: Paolo Vinci > > Sent: Sunday, August 05, 2001 09:12 AM > Subject: Re: [] X-linked CMT Article > > > That article says that in X-linked CMT the first structure to be defective > (bad) is MYELIN, not the axon. > The axon degenerates as a consequence of the myelin defect, not because > the > axon was wrong itself. > This was already well-known, because X-linked CMT is due to defective > myelin > protein called connexin32: the authors of that article just demonstrated > it > again by biopsies on 8 people. > About your 5 year old son, I am sure he will never be in a wheelchair: in > my > large CMT population, no CMTX is in a wheelchair. And in the future there > will be a gene therapy to stop the disease. > Paolo Vinci, MD > > > ----- Original Message ----- > From: <ann9055@...> > < > > Sent: Saturday, August 04, 2001 6:32 PM > Subject: Re: [] X-linked CMT Article > > > > Wow..that article was really hard to understand with all the medical > > terminology. I am very interested in what that all meant, because that > is > > the exact type of CMT that we have in our family...and, for me it is > > particularly informative because my 5 year old son started showing the > > disease at infancy and could be in a wheel chair within the next five > > years...if anyone can translate what that all meant...it would be > greatly > > appreciated. Thanks to you all for everything...Tana > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 6, 2001 Report Share Posted August 6, 2001 Sorry Becky, but I cannot agree with Lamar and you. Neither as a patient nor as a physician. I probably wasted my youth because of the wheelchair ghost! I am struggling to avoid that other people live with CMT as if they had a sword on their neck. Still in absence of a medical treatment, much can be done to improve functionality and live a normal life. It can and IT MUST. Not only in Italy. Paolo ----- Original Message ----- From: Maxwell <rmax@...> < > Sent: Sunday, August 05, 2001 10:12 PM Subject: Re: [] X-linked CMT Article > > -----Original Message----- > From: Lamar son <lls@...> > < > > Date: Sunday, August 05, 2001 11:57 AM > Subject: Re: [] X-linked CMT Article > >>>>Thanks Lamar, what you said was what I was going to say to Paolo about his statement to Tana about her son. Never say never! I cannot see how CMT can be so different in Italy then it is here can you? I went from very active to these braces (full leg) in 3 years! Talk about a blow! I was told CMT has " SLOW " progression and I might need walking aides in my elder years! (as the Dr. hands me a script for a cane~) > No one can predict how CMT will progress. Even Dr's. Dr's have a tendency to want to assure a worried patient and that's great, however, tell the patient what Could happen, then tell the patient that many many CMTer's never have those things happen, and as hard as it is to say and for the patient to accept, say we have to just wait and see. And I do hate the wait and see part, but its the truth and thats better than false hope. Being prepared for anything is a better way of life, ~>Becky M. > > Dr. Paolo Vinci, > Lamar here, > > That may be the symptomology that you have observed but I assure you many > with CMTX are in wheelchairs, including some " symptomatic carriers " While > the CMT in my large family has never been classified as to type and is not > CMTX), I was told at the age of 35 that " You MAY need to use a cane by the > time you are in your 70's " by the MDA neurologist that diagnosed me. I was > in an AFO by my mid 40's, used a cane by my late 40's, and now can only walk > very short distances with a cane or walker. An electric wheelchair has been > ordered. I am 53. Many articles still say CMT is seldom severely > handicapping, and is not life threatening, but many cases show that it can > be both. > > In my family well over 50% follow the pattern I have, and most of them > progress to the point that they can not even transfer from a wheelchair to > bed without assistance. Yet some show only mild symptoms for life, and some > require adaptive devices in childhood. Available DNA testing has been > negative, NCV's are only slightly slow but show , " Abnormalities compatible > with a mixed sensory-motor polyneuropathy, having both axonal and > demyelinating characteristics " Biopsy patterns are fairly uniform to: > " There is a severe loss of large diameter myelinated fibers but only a mild > loss of small fibers. Many of the fibers have abnormally thin myelin > sheaths, and a few of them are part of small onion bulbs. Regenerative > clusters of small myelinated fibers are excessive. 56 teased myelinated > fibers were evaluated. 38 of the fibers have increased variation of > internodal lengths consistent with segmental remyelination. 4 of the > myelinated fibers are normal; 3 show uniformly shortened internodes; 1 > displays axonal degeneration as reflected as a series of myelin ovoids; and > 10 fibers are each closely intertwined with another myelinated fibers, > hindering measurement of internodal lengths. > Diagnosis: Peripheral neuropathy (left sural, biopsy), chronic, moderately > severe with mixed features of axonal degeneration and segmental > remyelination. > Comment: The nerve biopsy specimen demonstrates evidence of segmental > remyelination in 68% of the teased myelinated fibers. This value and the > semithin plastic sections support a chronic demyelinating neuropathy. The > findings are consistent with hereditary motor sensory neuropathies (CMT). > The abnormalities favor the demyelinating type (HMSN, type 1) over HMSN, > type II, despite the reported normal values for motor conduction > velocities. " > > It is well known that CMT differs greatly in the extent and rate of > progression with all types, even within families. It has been shown that > identical twins with the same genetic makeup, experience these differences. > With all due respect to your credentials and experience, my 30 years as a > mental health professional make me question if it is psychologically wise to > make the statement you are sure that a child will not require a wheelchair, > when in fact no person has been able to accurately predict the rate or > extent of progression other than it seems to be a pattern of exacerbation > and plateaus. Likewise it is unwise to say that any person will have severe > progression. The glimmer of hope is what keeps many of us going, but to > state they will not need a wheelchair can possibly lead to a big > psychological blow IF the individual does. Many of my own life choices > would have been different had the physician been realistic and not assured > me that my mild symptoms at 35 would not markedly and rapidly progress. I > denied the progression as long as I could, but it rapidly reached the point > I could no longer deny it. I was faced with a sudden change in what I could > do while experiencing a loss of the primary stress reducing (coping) > mechanisms I had always found to work for me. Me being unable to continue > the work I loved due to the potential hazards to my patients, my co-workers, > and myself added to this. Depression followed. > > I am not saying that had the doctors not assured me otherwise, these life > changes would have been easier, BUT if they had said, " We don't know, you > may experience only mild symptoms, but you may have marked and crippling > progression, " I would have been better prepared to face what I have to. > > As for gene therapy, we all cling to the hope that answers will be found. > But at the same time we must admit that no one knows with certainty when or > if they will be found and approved for use. If the answer is in gene > therapy (which it well may be) I would think that something to either slow > or prevent progression would come well before something that would reverse > existing damage. Remember, they once said Penicillin would make infections > a thing of the past. I cling to the hope that gene therapy or some other > modality will be found to make the life of future generations easier, but at > the age of 53 I must realize that it is highly unlikely that a discovery > will be made and become available in my natural lifetime that will be of > marked benefit for me as an individual. I do feel answers will come. I am > not willing to even guess if they will be 5 years, 10 years, 20 years, 50 > years, etc. down the line. > > Again, I highly respect you and your work, but feel that the assurances you > gave MAY have been overly optimistic and possibly leading to increased > emotional trauma should this or any individual experience a marked > progression of CMT. The problems that man of us in America have faced for > years has been that most physicians still say that CMT is only mildly > handicapping, does not cause extensive pain, and is never life threatening. > ----- Original Message ----- > From: Paolo Vinci > > Sent: Sunday, August 05, 2001 09:12 AM > Subject: Re: [] X-linked CMT Article > > > That article says that in X-linked CMT the first structure to be defective > (bad) is MYELIN, not the axon. > The axon degenerates as a consequence of the myelin defect, not because > the > axon was wrong itself. > This was already well-known, because X-linked CMT is due to defective > myelin > protein called connexin32: the authors of that article just demonstrated > it > again by biopsies on 8 people. > About your 5 year old son, I am sure he will never be in a wheelchair: in > my > large CMT population, no CMTX is in a wheelchair. And in the future there > will be a gene therapy to stop the disease. > Paolo Vinci, MD > > > ----- Original Message ----- > From: <ann9055@...> > < > > Sent: Saturday, August 04, 2001 6:32 PM > Subject: Re: [] X-linked CMT Article > > > > Wow..that article was really hard to understand with all the medical > > terminology. I am very interested in what that all meant, because that > is > > the exact type of CMT that we have in our family...and, for me it is > > particularly informative because my 5 year old son started showing the > > disease at infancy and could be in a wheel chair within the next five > > years...if anyone can translate what that all meant...it would be > greatly > > appreciated. Thanks to you all for everything...Tana > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 6, 2001 Report Share Posted August 6, 2001 Dr Paolo, Not pessimistic by any means, but I am realistic. For a physician to grant false hope about any medical condition is considered to be both ethically and morally wrong (at least in America). To say that a person with CMTX or any form of CMT will not experience progression to a point to a point that they require a wheelchair is very possibly creating false hope. I have yet to meet a physician that was psychic. You state that you have not seen patients with CMTX that did require a wheelchair. I feel sure that there are those on this list that do, and I know that I have met those that do. As a professional nurse and certified counselor I would be willing to say that there is a good chance that any child will not require a wheelchair due to CMT, but that there is an equally realistic chance that they will. You always encourage activity within safe limits, but it would probably not be wise for the child to pursue a career as a tight rope walker! (Or any occupation requiring physical dexterity and leg strength.) I did not heed my own professional training and was stubborn. I wanted to believe the physicians that said my CMT would not progress markedly. I relieved stress by physical activity. I Cleared land by hand and had a small vegetable garden about 200 ft square. I kept my three acre lawn manicured. I painted and reroofed my home. I walked on the beach for miles. I climbed 100 ft pines with spikes and a safety belt to trim them. I hiked in the mountains. Then my ankles started turning, I started falling, I needed AFO's and then a cane. Now I can not step up on a curb without a LOT of assistance. I can not stand even for a few seconds without holding something. I was not prepared for what I found I was faced with. I would have much preferred the doctors to have helped prepare me for the POSSIBILITY. I will admit, I should have known it myself. After all, I have documented CMT in my family dating back to the 1850's and some 75+% with it have progressed to the point they could not transfer from a chair to the bed without assistance. Of course the ancestors in the 1850's were not diagnosed, but at least three siblings had symptoms that have been present in every generation since and have descendants with the CMT diagnosis. Neither am I pessimistic about gene therapy. It could well hold promise in the future, but if the process was discovered today, it would probably be a minimum of 10 years before it was accepted for use and many more years before it would be widely available, and even more before the average individual with CMT (and possibly a limited income) could afford it. Let's face it, if a cure for CMT was available today and would cost $250,000 out of pocket, many of us would have to pass it up. Gene therapy for CMT may one day be found, but as of today it does not exist. Until it does exist, and is proven to work and accepted for medical use, and is readily available; it remains a HOPE and not a certainty. I will share the story of another young girl. She was only 8 and had leukemia. Her parents heard of a doctor that had a " cure " . They mortgaged their home and farm to pay for the cure. She had the treatment and was (according to the doctor) " cured " . Two weeks later she died. The family lost not only a child, they lost everything they owned. Today, she may have survived. Cures for CMT, all cancers, heart disease, HIV etc. are probably out there in the future, but no one can assure when they will be found. The stages of grief in a chronic illness or terminal illness are denial, anger, hope for a miracle, and acceptance. If we stay hung up on hopes for a miracle we are setting ourselves up for failure. That does not mean to give up hope, but means that we do not live our life as if something will be found next week that will make out CMT go away. I do not know how much or how fast my own CMT will progress, but I am aware that it MAY become much more severe. I am making an effort to simplify my life as much as possible. Living alone and having no " caregiver " I know that it will be up to me to remain independent as long as possible. I choose not to lead a life of constant dread that I will one day be in a nursing home, but remain aware that the possibility is realistic and can not be overlooked. ----- Original Message ----- From: Paolo Vinci Sent: Monday, August 06, 2001 07:37 AM Subject: Re: [] X-linked CMT Article Dear Lamar, why are you so pessimist? Don't you think that saying anybody that he will be in a wheelchair in few years means that he will undergo inevitable depression? Or, in case of children, the parents will undergo depression! Better a positive message! Especially if the possibility to need a wheelchair is minimal. When I was a boy, my parents were told that I was going to be in a wheelchair at the age of 18. My mother got depressed and needed medications. Fortunately I reacted positively and did not care. When I worsened, ten years ago, I realized what the causes were (obesity, wrong footwear) and corrected them: so I could COMPENSATE for the progressive reduction in muscle strength. Now, I am still able to walk without a stick. Doctors can be wrong with diagnosis: I was diagnosed with a variant of Lou-Gerig disease (a very bad motor neuron disease) by an eminent professor: I would not be here if I had it. I see that you have not yet been diagnosed definitevely as to type and subtype; and that you do not have CMTX, at least not the form due to connexin32. If your nerve conduction velocities are quite normal, you might have a CMT2, which can be more severe than most CMT1 cases. In addition many CMT2 cases present an associated involvement of the central nerve system, with muscle stiffness and spasms, or other signs which worsen the peripheral neuropathy (CMT). There are CMT1 mutations (e.g. P0 124 mutation) and some CMT2 forms (like mine) that can cause severe muscle loss in the lower limbs, with need of long braces or a wheelchair. There are also recessive forms, which are severe. To further complicate the issue, the need of a wheelchair may be due to personal (obesity, depression, accidental falls, and so on) and environmental factors I am studying in order to eliminate them. I just would like to tell you that, 4 years ago, a nice 14 y.o. girl enter my examination room in a wheelchair pushed by her mother. She has CMT 2. She had been told by my chief that it was better if she did not walk (The less you walk, the better it is!). It was not easy to visit her, because she was very depressed and refused any help. She told me that she had NO FUTURE. I think that, if I too had not had a CMT, she would have never accepted to undergo rehab. I visited her: she oscillated and had pain when she stood up for longer than few seconds. But I found that she had strong quadriceps and glutei muscles! The reason for her pains was a biomechanical problem in her feet, where an excessive achilles tendon lengthening had been performed. I corrected her problem by proper wedges and boots. And she could stand for longer than 10 minutes without oscillations and pain. Now she is 18. I saw her last month. She walks quite well. She is positive about her future. This year she will go to the university by public means of transportation. Was her wheelchair really necessary? About gene therapy too, why are you so pessimist? In the fifties, many people died from tubercolosis. Then a drug was found and they lived... they are still alive and become old. See you. Paolo ----- Original Message ----- From: Lamar son <lls@...> < > Sent: Sunday, August 05, 2001 7:04 PM Subject: Re: [] X-linked CMT Article > Dr. Paolo Vinci, > Lamar here, > > That may be the symptomology that you have observed but I assure you many > with CMTX are in wheelchairs, including some " symptomatic carriers " While > the CMT in my large family has never been classified as to type and is not > CMTX), I was told at the age of 35 that " You MAY need to use a cane by the > time you are in your 70's " by the MDA neurologist that diagnosed me. I was > in an AFO by my mid 40's, used a cane by my late 40's, and now can only walk > very short distances with a cane or walker. An electric wheelchair has been > ordered. I am 53. Many articles still say CMT is seldom severely > handicapping, and is not life threatening, but many cases show that it can > be both. > > In my family well over 50% follow the pattern I have, and most of them > progress to the point that they can not even transfer from a wheelchair to > bed without assistance. Yet some show only mild symptoms for life, and some > require adaptive devices in childhood. Available DNA testing has been > negative, NCV's are only slightly slow but show , " Abnormalities compatible > with a mixed sensory-motor polyneuropathy, having both axonal and > demyelinating characteristics " Biopsy patterns are fairly uniform to: > " There is a severe loss of large diameter myelinated fibers but only a mild > loss of small fibers. Many of the fibers have abnormally thin myelin > sheaths, and a few of them are part of small onion bulbs. Regenerative > clusters of small myelinated fibers are excessive. 56 teased myelinated > fibers were evaluated. 38 of the fibers have increased variation of > internodal lengths consistent with segmental remyelination. 4 of the > myelinated fibers are normal; 3 show uniformly shortened internodes; 1 > displays axonal degeneration as reflected as a series of myelin ovoids; and > 10 fibers are each closely intertwined with another myelinated fibers, > hindering measurement of internodal lengths. > Diagnosis: Peripheral neuropathy (left sural, biopsy), chronic, moderately > severe with mixed features of axonal degeneration and segmental > remyelination. > Comment: The nerve biopsy specimen demonstrates evidence of segmental > remyelination in 68% of the teased myelinated fibers. This value and the > semithin plastic sections support a chronic demyelinating neuropathy. The > findings are consistent with hereditary motor sensory neuropathies (CMT). > The abnormalities favor the demyelinating type (HMSN, type 1) over HMSN, > type II, despite the reported normal values for motor conduction > velocities. " > > It is well known that CMT differs greatly in the extent and rate of > progression with all types, even within families. It has been shown that > identical twins with the same genetic makeup, experience these differences. > With all due respect to your credentials and experience, my 30 years as a > mental health professional make me question if it is psychologically wise to > make the statement you are sure that a child will not require a wheelchair, > when in fact no person has been able to accurately predict the rate or > extent of progression other than it seems to be a pattern of exacerbation > and plateaus. Likewise it is unwise to say that any person will have severe > progression. The glimmer of hope is what keeps many of us going, but to > state they will not need a wheelchair can possibly lead to a big > psychological blow IF the individual does. Many of my own life choices > would have been different had the physician been realistic and not assured > me that my mild symptoms at 35 would not markedly and rapidly progress. I > denied the progression as long as I could, but it rapidly reached the point > I could no longer deny it. I was faced with a sudden change in what I could > do while experiencing a loss of the primary stress reducing (coping) > mechanisms I had always found to work for me. Me being unable to continue > the work I loved due to the potential hazards to my patients, my co-workers, > and myself added to this. Depression followed. > > I am not saying that had the doctors not assured me otherwise, these life > changes would have been easier, BUT if they had said, " We don't know, you > may experience only mild symptoms, but you may have marked and crippling > progression, " I would have been better prepared to face what I have to. > > As for gene therapy, we all cling to the hope that answers will be found. > But at the same time we must admit that no one knows with certainty when or > if they will be found and approved for use. If the answer is in gene > therapy (which it well may be) I would think that something to either slow > or prevent progression would come well before something that would reverse > existing damage. Remember, they once said Penicillin would make infections > a thing of the past. I cling to the hope that gene therapy or some other > modality will be found to make the life of future generations easier, but at > the age of 53 I must realize that it is highly unlikely that a discovery > will be made and become available in my natural lifetime that will be of > marked benefit for me as an individual. I do feel answers will come. I am > not willing to even guess if they will be 5 years, 10 years, 20 years, 50 > years, etc. down the line. > > Again, I highly respect you and your work, but feel that the assurances you > gave MAY have been overly optimistic and possibly leading to increased > emotional trauma should this or any individual experience a marked > progression of CMT. The problems that man of us in America have faced for > years has been that most physicians still say that CMT is only mildly > handicapping, does not cause extensive pain, and is never life threatening. > ----- Original Message ----- > From: Paolo Vinci > > Sent: Sunday, August 05, 2001 09:12 AM > Subject: Re: [] X-linked CMT Article > > > That article says that in X-linked CMT the first structure to be defective > (bad) is MYELIN, not the axon. > The axon degenerates as a consequence of the myelin defect, not because > the > axon was wrong itself. > This was already well-known, because X-linked CMT is due to defective > myelin > protein called connexin32: the authors of that article just demonstrated > it > again by biopsies on 8 people. > About your 5 year old son, I am sure he will never be in a wheelchair: in > my > large CMT population, no CMTX is in a wheelchair. And in the future there > will be a gene therapy to stop the disease. > Paolo Vinci, MD > > > ----- Original Message ----- > From: <ann9055@...> > < > > Sent: Saturday, August 04, 2001 6:32 PM > Subject: Re: [] X-linked CMT Article > > > > Wow..that article was really hard to understand with all the medical > > terminology. I am very interested in what that all meant, because that > is > > the exact type of CMT that we have in our family...and, for me it is > > particularly informative because my 5 year old son started showing the > > disease at infancy and could be in a wheel chair within the next five > > years...if anyone can translate what that all meant...it would be > greatly > > appreciated. Thanks to you all for everything...Tana > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 6, 2001 Report Share Posted August 6, 2001 -----Original Message----- From: Paolo Vinci <p.vinci@...> < > Date: Monday, August 06, 2001 6:46 AM Subject: Re: [] X-linked CMT Article Sorry Becky, but I cannot agree with Lamar and you. Neither as a patient nor as a physician. >>>The one thing we all can agree upon is, we all have different opinions. My opinion on it is that, its best to sit the New CMT patient down and tell them about CMT. Tell them the things that some CMTer's experience, tell them that some are in wheelchairs, or have to use one for distance. Then tell them, assure them that even though it can happen, does not mean it will happen to them or their child. What a shock it is to be told yes you have CMT or your child has CMT and life is going to be ok, not a problem, just a treatment here and there some special shoes and everything is going to be ok. That patient may very well be ok. But that patient may in 5 years be in a wheelchair! And how shocking when their trusted Dr. didn't tell them a thing about that! That causes more anger for the CMTer to deal with. And the lost trust of Dr's. And when that person asks you WHY didn't you let me know this could happen to me? Your answer of, personally I never thought it would, won't be much help to them. Knowledge is far from a sword in the neck. It's power, power to over come, to make the best of, to help avoid, and to prepare ones self just in case it happens, its not a complete shock which can cause more anger, resentment, fear, frustration, lack of trust. If it does happen to that patient, how can they ever trust a Dr. again? And that could emotionaly hang over to other relationships. Job, family, partner etc. Just my opinion, ~>Becky M. I probably wasted my youth because of the wheelchair ghost! I am struggling to avoid that other people live with CMT as if they had a sword on their neck. Still in absence of a medical treatment, much can be done to improve functionality and live a normal life. It can and IT MUST. Not only in Italy. Paolo ----- Original Message ----- From: Maxwell <rmax@...> < > Sent: Sunday, August 05, 2001 10:12 PM Subject: Re: [] X-linked CMT Article > > -----Original Message----- > From: Lamar son <lls@...> > < > > Date: Sunday, August 05, 2001 11:57 AM > Subject: Re: [] X-linked CMT Article > >>>>Thanks Lamar, what you said was what I was going to say to Paolo about his statement to Tana about her son. Never say never! I cannot see how CMT can be so different in Italy then it is here can you? I went from very active to these braces (full leg) in 3 years! Talk about a blow! I was told CMT has " SLOW " progression and I might need walking aides in my elder years! (as the Dr. hands me a script for a cane~) > No one can predict how CMT will progress. Even Dr's. Dr's have a tendency to want to assure a worried patient and that's great, however, tell the patient what Could happen, then tell the patient that many many CMTer's never have those things happen, and as hard as it is to say and for the patient to accept, say we have to just wait and see. And I do hate the wait and see part, but its the truth and thats better than false hope. Being prepared for anything is a better way of life, ~>Becky M. > > Dr. Paolo Vinci, > Lamar here, > > That may be the symptomology that you have observed but I assure you many > with CMTX are in wheelchairs, including some " symptomatic carriers " While > the CMT in my large family has never been classified as to type and is not > CMTX), I was told at the age of 35 that " You MAY need to use a cane by the > time you are in your 70's " by the MDA neurologist that diagnosed me. I was > in an AFO by my mid 40's, used a cane by my late 40's, and now can only walk > very short distances with a cane or walker. An electric wheelchair has been > ordered. I am 53. Many articles still say CMT is seldom severely > handicapping, and is not life threatening, but many cases show that it can > be both. > > In my family well over 50% follow the pattern I have, and most of them > progress to the point that they can not even transfer from a wheelchair to > bed without assistance. Yet some show only mild symptoms for life, and some > require adaptive devices in childhood. Available DNA testing has been > negative, NCV's are only slightly slow but show , " Abnormalities compatible > with a mixed sensory-motor polyneuropathy, having both axonal and > demyelinating characteristics " Biopsy patterns are fairly uniform to: > " There is a severe loss of large diameter myelinated fibers but only a mild > loss of small fibers. Many of the fibers have abnormally thin myelin > sheaths, and a few of them are part of small onion bulbs. Regenerative > clusters of small myelinated fibers are excessive. 56 teased myelinated > fibers were evaluated. 38 of the fibers have increased variation of > internodal lengths consistent with segmental remyelination. 4 of the > myelinated fibers are normal; 3 show uniformly shortened internodes; 1 > displays axonal degeneration as reflected as a series of myelin ovoids; and > 10 fibers are each closely intertwined with another myelinated fibers, > hindering measurement of internodal lengths. > Diagnosis: Peripheral neuropathy (left sural, biopsy), chronic, moderately > severe with mixed features of axonal degeneration and segmental > remyelination. > Comment: The nerve biopsy specimen demonstrates evidence of segmental > remyelination in 68% of the teased myelinated fibers. This value and the > semithin plastic sections support a chronic demyelinating neuropathy. The > findings are consistent with hereditary motor sensory neuropathies (CMT). > The abnormalities favor the demyelinating type (HMSN, type 1) over HMSN, > type II, despite the reported normal values for motor conduction > velocities. " > > It is well known that CMT differs greatly in the extent and rate of > progression with all types, even within families. It has been shown that > identical twins with the same genetic makeup, experience these differences. > With all due respect to your credentials and experience, my 30 years as a > mental health professional make me question if it is psychologically wise to > make the statement you are sure that a child will not require a wheelchair, > when in fact no person has been able to accurately predict the rate or > extent of progression other than it seems to be a pattern of exacerbation > and plateaus. Likewise it is unwise to say that any person will have severe > progression. The glimmer of hope is what keeps many of us going, but to > state they will not need a wheelchair can possibly lead to a big > psychological blow IF the individual does. Many of my own life choices > would have been different had the physician been realistic and not assured > me that my mild symptoms at 35 would not markedly and rapidly progress. I > denied the progression as long as I could, but it rapidly reached the point > I could no longer deny it. I was faced with a sudden change in what I could > do while experiencing a loss of the primary stress reducing (coping) > mechanisms I had always found to work for me. Me being unable to continue > the work I loved due to the potential hazards to my patients, my co-workers, > and myself added to this. Depression followed. > > I am not saying that had the doctors not assured me otherwise, these life > changes would have been easier, BUT if they had said, " We don't know, you > may experience only mild symptoms, but you may have marked and crippling > progression, " I would have been better prepared to face what I have to. > > As for gene therapy, we all cling to the hope that answers will be found. > But at the same time we must admit that no one knows with certainty when or > if they will be found and approved for use. If the answer is in gene > therapy (which it well may be) I would think that something to either slow > or prevent progression would come well before something that would reverse > existing damage. Remember, they once said Penicillin would make infections > a thing of the past. I cling to the hope that gene therapy or some other > modality will be found to make the life of future generations easier, but at > the age of 53 I must realize that it is highly unlikely that a discovery > will be made and become available in my natural lifetime that will be of > marked benefit for me as an individual. I do feel answers will come. I am > not willing to even guess if they will be 5 years, 10 years, 20 years, 50 > years, etc. down the line. > > Again, I highly respect you and your work, but feel that the assurances you > gave MAY have been overly optimistic and possibly leading to increased > emotional trauma should this or any individual experience a marked > progression of CMT. The problems that man of us in America have faced for > years has been that most physicians still say that CMT is only mildly > handicapping, does not cause extensive pain, and is never life threatening. > ----- Original Message ----- > From: Paolo Vinci > > Sent: Sunday, August 05, 2001 09:12 AM > Subject: Re: [] X-linked CMT Article > > > That article says that in X-linked CMT the first structure to be defective > (bad) is MYELIN, not the axon. > The axon degenerates as a consequence of the myelin defect, not because > the > axon was wrong itself. > This was already well-known, because X-linked CMT is due to defective > myelin > protein called connexin32: the authors of that article just demonstrated > it > again by biopsies on 8 people. > About your 5 year old son, I am sure he will never be in a wheelchair: in > my > large CMT population, no CMTX is in a wheelchair. And in the future there > will be a gene therapy to stop the disease. > Paolo Vinci, MD > > > ----- Original Message ----- > From: <ann9055@...> > < > > Sent: Saturday, August 04, 2001 6:32 PM > Subject: Re: [] X-linked CMT Article > > > > Wow..that article was really hard to understand with all the medical > > terminology. I am very interested in what that all meant, because that > is > > the exact type of CMT that we have in our family...and, for me it is > > particularly informative because my 5 year old son started showing the > > disease at infancy and could be in a wheel chair within the next five > > years...if anyone can translate what that all meant...it would be > greatly > > appreciated. Thanks to you all for everything...Tana > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 6, 2001 Report Share Posted August 6, 2001 Lamar, I certainly do not look on your words as pessimistic. Anyone who has dealt with CMT for years knows that we 'don't know' what is in our future. But we do not look on the dark side--there is always hope. My first symptoms started when I was 10-11 years old--mainly falling, and spraining an ankle. At that time, I put down my 'doppiness' as just taking after my father, who had much trouble walking and keeping his balance in later years. My CMT1A was not dx until I was 39 (I'm now 73),but by that time, I was married and had four children, three of whom have inherited it in varying degrees. I now use a cane, and a w/c when I know there will be some walking required. Like you, I can not get up a curb by myself, even with a cane, but have learned to wait until someone comes by and ask if they'll help me--I have never been turned down. The funny thing is, sometimes it's someone older than me who offers to help. I did seem to have a 'dormant' period during my 40's and into the 50's, when it seemed to get no worse, but now it seems to be progressing very fast. But I am at a stage in my life when I can take things slow and easy, thank goodness. I feel for those of us who are younger and still raising a family, if their symptoms are severe--they are in my daily prayers. We've learned so much about CMT in the last decade or so, and still have so much more to learn. To a CMT-free future--Theresa Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 6, 2001 Report Share Posted August 6, 2001 -----Original Message----- From: Benj. S Ember <benember@...> < > Date: Monday, August 06, 2001 4:51 PM Subject: Re: [] X-linked CMT Article Lamar, I certainly do not look on your words as pessimistic. Anyone who has dealt with CMT for years knows that we 'don't know' what is in our future. But we do not look on the dark side--there is always hope. To a CMT-free future--Theresa >>>>Theresa, DITTO! Lamar was far from being pessimistic in his post. Just stating facts. None of us know our futures with or with out CMT. And to state otherwise when dealing with a disability? Well, it just can't be done! Or shouldn't be done. Awareness of what might happen is better than having hopes smashed. At least one knows IF it ever happens, that it could of happened to them. ~>Becky M. Quote Link to comment Share on other sites More sharing options...
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