Guest guest Posted November 2, 2009 Report Share Posted November 2, 2009 Hi Francesca, I don't belong to a support group, but there is one in San Diego that just started up last month. If I were to attend one, it would probably be that one, since it's the closest, but it's still over an hour drive, which is challenging for me. A member of this forum who lives in San Diego was kind enough to drive up to my area in the summer, so I had an opportunity to meet someone with CMT (other than a family member) for the first time, which was wonderful. As for my prognosis, my neurologist only says that I will not get better. He gives me pain meds and tells me to get in the pool when I'm able to fight further decline, but he does not predict the rate of decline for the future. I would be suspicious of any doctor who was willing to forecast how my disease will progress, since there are too many variables and the disease affects everyone differently. Your emotional distress is understandable. It's usually either grieving the loss of some physical ability (even small changes) or fear of the future (how bad is this going to get). You have friends here who can relate to what you're experiencing. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 2, 2009 Report Share Posted November 2, 2009 Thank you . Today I went to my neuro and he did a full nerve conduction test and EMG on my distal muscles and my hands. He then called in two colleagues who are specialists in degenerative neuro muscular diseases. After looking at the EMGS etc they all three concurred that I do not have CMT. My numbers are way way too high they say to be CMT...and my tests on my hands showed a slight slowness but not CMT. So......what is it? They are sending me to Genetics and they will meet again this week and determine what tests I am to take. I am happy if it is not CMT I think but now worried that it is something much worse but they did not think so. One of the doctors kept saying SMA (spinal muscular atrophy) and if you google that, in children it is fatal but it says that in adults a person can age normally, and even have children. So I am so tired and confused and I still want to meet others with CMT because just in this short time I have been with this group, there are others that present the same way I do but they have a positive diagnosis for CMT and now...I don't...if the EMG results are to be believed. Francesca [Non-text portions of this message have been removed] [Non-text portions of this message have been removed] Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 3, 2009 Report Share Posted November 3, 2009 Francesca, I'm so sorry for what you are going through. It's emotionally challenging to go through a long diagnostic process and there's lots of worry as to what the end result will be. It sounds like you are in good hands and your team of doctors is continuing to search for a diagnosis for you. However, if you feel like it might benefit you to get another opinion, there's nothing wrong with doing so. You're entitled to copies of your medical records and test results. You can take them to another physician for a second opinion, if you feel so inclined. Did your doctors rule out CMT based on the nerve conduction results only? I'm wondering because it's possible for people with CMT Type 2 and Type X to have normal or slightly slowed NCV results. Perhaps there were other things they looked at as well, but it might not hurt to ask them. Here's a reference to Dr. Bird's write-up about CMT Type 2, in case it helps: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene & part=cmt#cmt.Establishin\ g_the_Dia " In CMT1, the most common CMT subtype, NCVs are very slow and peripheral nerves may be palpably enlarged. This is not true of CMT2 or CMTX. " I wish you the best in solving this diagnostic mystery. I hope you get your answer soon. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 3, 2009 Report Share Posted November 3, 2009 Hi Francesa, I feel for you. Even after my childhood CMT diagnosis in the early 1960s, I was rediagosed with Muscular Dystropy, and then Frederich's Ataxia, before being rediagnosed AGAIN with CMT. What emotional distress as a teen! (all this was done with a group of doctors at UCLA) My EMG/NCV's are all within the normal range, and showed reinnervation which I found out indicate CMT 2. (Reinnervation is nerves rewiring themselves) But I have not had genetic testing. Genetic testing is something new - well as of the 1990s, and I was already 'into life' so haven't had it. There is no history of CMT in my family, and any other relatives that I remember had no signs/symptoms whatsover. My sibling was adopted, so there's no genetic connection. Bearing that in mind, my curent neurologist has concluded my CMT is of a recessive inheritance. Although he also adds it could be a 'de novo' - spontaneous mutation. Research on primates has suggested the CMT gene has been in the 'human family' for 6 - 7 million years. http://www.accessexcellence.org/RC/VL/GG/recessive.php http://ghr.nlm.nih.gov/glossary=denovomutation There are so many different types of CMT http://neuromuscular.wustl.edu/time/hmsn.html Now you must take charge of getting a confirmed diagnois. Ask first for a skin biopsy. Then ask for the complete CMT DNA panel blood test. Don't let doctors * tell you * what tests they want. If a doctor suggests a spinal tap, question that an put if off as long as you can. It is used as a diagnostic tool to rule out disorders like MS, and is somewhat invasive. I know, I had it once - my fluid was clear. Ask to be tested for CIDP too. CMT is a wacky disorder, while we all share some common symptoms and different ages of onset and diagnosis, it's still CMT - also known as Hereditary Motor Sensory Neuropathy. HNPP or Hereditary Neuropathy with Liability to Pressure Palsies is somewhat similiar and has been described as a 'genetic opposite' of CMT 1A. You may also want to consult with another neurologist for an opinion after reviewing your tests so far or for more guidance. I can recommend a good one in Santa Barbara. Gretchen > > Thank you . > > Today I went to my neuro and he did a full nerve conduction test and EMG on my distal muscles and my hands. He then called in two > colleagues who are specialists in degenerative neuro muscular diseases. After looking at the EMGS etc they all three concurred that I do not have CMT. My numbers are way way too high they say to be CMT...and my tests on my hands showed a slight slowness but not CMT. > > So......what is it? They are sending me to Genetics and they will meet again this week and determine what tests I am to take. I am happy if it is not CMT I think but now worried that it is something much worse but they did not think so. One of the doctors kept saying SMA (spinal muscular atrophy) and if you google that, in > children it is fatal but it says that in adults a person can age normally, and even have children. > > So I am so tired and confused and I still want to meet others with CMT because just in this short time I have been with this group, there are others that present the same way I do but they have a > positive diagnosis for CMT and now...I don't...if the EMG results are to be believed. > > Francesca > > > > > > > > > [Non-text portions of this message have been removed] > > [Non-text portions of this message have been removed] > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 3, 2009 Report Share Posted November 3, 2009 Francesca, When I was first being diagnosed, they called it Kugelburg Welander for several years, which I believe now they call SMA. Years later, I wass told they did not think I had CMT and sent me for genetic testing for SMA. After those results came back negative, they went back to thinking I have CMT and maybe a new type. Who knows? For the longest time, my hands did not show signs of CMT but the EMG for my legs definately showed axonal nerve problems. Jackie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 8, 2009 Report Share Posted November 8, 2009 Gretchen Thank you for this email. I will take heed to everything you have said here, especially dealing with my doctors. I have had spinal tap, a muscle biopsy and so many blood tests i can't remember everything. all these years we just sort of settled on CMT of the distal muscles and until this year, after a number of falls and the change in the appearance of my hands, we really did nothing much other than EMGS every so often. I feel in my heart that I do have CMT even if the science doesn't support it. The last words out of their mouths was Spinal Muscular Atrophy so we will see what the genetic testing says. In the meantime, i still want to come up there by you for the meeting of your group in January. Please let me know when. Thank you Francesca Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 8, 2009 Report Share Posted November 8, 2009 Thank you for your support. I am going to go up to Santa Barbara to Gretchen's group in January but I live an hour north of you and I go to San Diego twice a year. Maybe I could find out about that group and meet anyone from the group when I go down to Pugfest. This last week I have just sort of have been in shock a bit being told that I did not have CMT when I have lived with that thought for so long. I think after the genetic testing comes about, we will or might have a better idea of what is going on.... Francesca In a message dated 11/2/2009 10:14:45 A.M. Pacific Standard Time, agraham2k@... writes: Hi Francesca, I don't belong to a support group, but there is one in San Diego that just started up last month. If I were to attend one, it would probably be that one, since it's the closest, but it's still over an hour drive, which is challenging for me. A member of this forum who lives in San Diego was kind enough to drive up to my area in the summer, so I had an opportunity to meet someone with CMT (other than a family member) for the first time, which was wonderful. As for my prognosis, my neurologist only says that I will not get better. He gives me pain meds and tells me to get in the pool when I'm able to fight further decline, but he does not predict the rate of decline for the future. I would be suspicious of any doctor who was willing to forecast how my disease will progress, since there are too many variables and the disease affects everyone differently. Your emotional distress is understandable. It's usually either grieving the loss of some physical ability (even small changes) or fear of the future (how bad is this going to get). You have friends here who can relate to what you're experiencing. 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Guest guest Posted November 8, 2009 Report Share Posted November 8, 2009 Jackie... thanks....my doc did mention SMA and i think the muscle biopsy might have supported that. we will see what happens. in the meantime, i am trying to carry on with normal days and not over do my workouts like i i did this week and send my body in to a fit of muscle spasms. my task is to keep my weight down and it is so hard to do that. F [Non-text portions of this message have been removed] Quote Link to comment Share on other sites More sharing options...
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