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  • redscootee@webtv.net
    It is nice to see that there is a group for ppl with mtm. I found out I had md in 1990 and was not dx d til 98 with mtm. My son had two biopsies and I had one.
    Message 1 of 16 , Jul 13, 2003
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      It is nice to see that there is a group for ppl with mtm.
      I found out I had md in 1990 and was not dx'd til 98 with mtm. My son
      had two biopsies and I had one. The second biopsy on my son is the one
      that gave us the dx.
      I am in a power chair all the time. I can only walk short distances with
      assistance.
      Would love to hear from others who share this rare disease.
      take care pat
    • kbrowland2@aol.com
      Hi Pat -- Just out of curiosity -- are you male or female? I am a 40+ female who was diagnosed with mtm 3 years ago. A life time of weakness (always chalked
      Message 2 of 16 , Jul 14, 2003
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        Hi Pat --

        Just out of curiosity -- are you male or female? I am a 40+ female who was diagnosed with mtm 3 years ago. A life time of weakness (always chalked up to "weak female") has been explained. I am mobile, but have serious difficulty walking any distances and steps are a huge challenge for me.
      • amanda Hollingsworth
        Hi Pat. I noticed your name from the myopathy group. I am Amanda, mom to Jacob. He has x-linked mtm. I am glad you found us here. Although this group
        Message 3 of 16 , Jul 14, 2003
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          Hi Pat.  I noticed your name from the myopathy group.  I am Amanda, mom to Jacob.  He has x-linked mtm.  I am glad you found us here.  Although this group isn't nearly as busy as the myopathy group, it is definitely nice to know that everyone here can completely relate to others with mtm.  How old is your son?  How badly is he affected?  I am assuming that you have the auto dominant form.   I look forward to getting to know you on both boards.  Take care.

          redscootee@... wrote:
          It is nice to see that there is a group for ppl with mtm.
          I found out I had md in 1990 and was not dx'd til 98 with mtm. My son
          had two biopsies and I had one. The second biopsy on my son is the one
          that gave us the dx.
          I am in a power chair all the time. I can only walk short distances with
          assistance.
          Would love to hear from others who share this rare disease.
          take care pat




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        • redscootee@webtv.net
          To KBrowland, Sorry forgot to mention that I am a female. I am a manifesting carrier of mtm. Am glad to see there are some other adults on the list. We have
          Message 4 of 16 , Jul 14, 2003
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            To KBrowland,
            Sorry forgot to mention that I am a female. I am a manifesting carrier
            of mtm. Am glad to see there are some other adults on the list. We have
            the xllinked type of mtm.
            I never excelled in sports as a kid. Have always been slow at running.
            Getting up from the floor and in later years stairs proved to be
            difficult too.
            What led to your dx of mtm?
            Hope to hear from you again.
            take care pat
          • redscootee@webtv.net
            Amanda, Nice to see you over here too. I was looking for something at my groups setting when I found this group. Being a manifesting carrier of mtm it will be
            Message 5 of 16 , Jul 14, 2003
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              Amanda, Nice to see you over here too.
              I was looking for something at my groups setting when I found this
              group. Being a manifesting carrier of mtm it will be nice to talk with
              others who have this rare type of md.
              I saw your picture of Jacob on the other list. What a handsome young
              man.
              Thanks for the welcome. take care pat
            • redscootee@webtv.net
              Amanda, Hit the send button before I was done answering your email. My son Tim is 28. He is still mobile. He has trouble rising from the floor and going up
              Message 6 of 16 , Jul 14, 2003
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                Amanda, Hit the send button before I was done answering your email. My
                son Tim is 28. He is still mobile. He has trouble rising from the floor
                and going up stairs. He has an exaggerated gait when he goes up the
                stairs like he is pulling himself up them. The way we found out we had
                md was when he was going to Univ of IL Rehab for PT. One of the docks
                noticed his over delevoped calfs. I guess a thing they notice in md. He
                had the blood test for his enzyme level. When it came back high then I
                had mine tested. I had the over developed calfs also.
                If you have any questions feel free to ask.
                take care pat
              • kbrowland2@aol.com
                Hi Pat -- I forgot to mention that I m Kathy!! Sorry about that.... Along with MTM, I have degenerative disk disease as well as was having a problem with
                Message 7 of 16 , Jul 15, 2003
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                  Hi Pat --

                  I forgot to mention that I'm Kathy!! Sorry about that....

                  Along with MTM, I have degenerative disk disease as well as was having a problem with cervical disks pinching nerves. I was sent to a neurosurgeon that recognized my weakness as a real problem. He refused to do anything for me until we found out what the weakness was. I was shocked because I had been like this all my life. It took about 9 months of tests and such, but my neurologist finally came up with MTM based on my symptoms and the muscle biopsy results. He said I've most likely had this since birth, but it was mild enough in the beginning to be ignored. He said that I have been adapting without even realizing it. He said he could tell by the way I get up from a chair as I don't do it like a regular person would do.

                  Unfortunately, both of parents were already dead at this point so we couldn't figure out where I got it. I suspect it was from my mother.

                  While it was kind of nice to find out that there was a reason for all the weakness and trouble I had, it also told me that it wasn't going to get any better. For years, I had myself convinced that if I just put in more effort into exercising, I'd get stronger. But everytime I tried to exercise, it got worse. I blamed myself for it saying I needed to try harder. Now I realize why it never got any easier for me to exercise.
                • redscootee@webtv.net
                  I had open heart surgery when I was 9. I have never excelled at sports and always thought having the heart surgery was why. I was surprised when I found out it
                  Message 8 of 16 , Jul 15, 2003
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                    I had open heart surgery when I was 9. I have never excelled at sports
                    and always thought having the heart surgery was why. I was surprised
                    when I found out it was md. I am the same way about getting up from a
                    chair. Hard to explain but you really can tell there is something
                    different. I always tried to shrug off that there was anything wrong and
                    it would bother me when I could not keep up with others.
                    I have a congenital break in my back. The doc says I have always had
                    that along with the md also. It is strange to hear that you have disk
                    problems too. When I went out on disability from my job in 95 it was due
                    to the break in my back and not the md at the time. I had fallen and hit
                    my back at the time and they figure that just aggravated it. I now know
                    that the md does not help with the back. In normal ppl the muscles help
                    to support the back. Are you able to still get around on your own?
                    My mom's sister is the only one left on her side and she does not have
                    any of the symptoms of md nor does she know of anyone else with it in
                    the family.
                    Was good to hear from you. take care pat
                  • dhahjh
                    Hi Pat...I am just so amazed at how wide spread the spectrum is for this disease. I mean, take my son and many other boys here for example. They were born
                    Message 9 of 16 , Jul 16, 2003
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                      Hi Pat...I am just so amazed at how wide spread the spectrum is for
                      this disease. I mean, take my son and many other boys here for
                      example. They were born with severe problems secondary to MTM.
                      They can't (probably never won't) walk, eat, or crawl. And they can
                      barely hold their little heads up. And then there is you and your
                      son, who have mild symptoms (relative to our boys). I am sure they
                      are not too mild in your eyes. I understand how the genetics for
                      the disease works and why there is such a huge continuum, but it is
                      just still amazing.
                      Does your weakness seem to be progressive? I'm just asking because
                      you said your son "is still mobile" and you use a power chair now.
                      That is also interesting to me because, despite my son's severe
                      weakness, he seems to get stronger. In fact, he is much stronger
                      than he was at birth.
                      Sorry for rambling. It is just really interesting to compare mtm
                      with another dx'ed person. I hope you and your son are doing well.
                      Take care.
                      Amanda - mommy to Jacob, dx xlmtm at 8 days of age, trach, g-tube

                      --- In Myotubular_Myopathy@yahoogroups.com, redscootee@w... wrote:
                      > Amanda, Hit the send button before I was done answering your
                      email. My
                      > son Tim is 28. He is still mobile. He has trouble rising from the
                      floor
                      > and going up stairs. He has an exaggerated gait when he goes up the
                      > stairs like he is pulling himself up them. The way we found out we
                      had
                      > md was when he was going to Univ of IL Rehab for PT. One of the
                      docks
                      > noticed his over delevoped calfs. I guess a thing they notice in
                      md. He
                      > had the blood test for his enzyme level. When it came back high
                      then I
                      > had mine tested. I had the over developed calfs also.
                      > If you have any questions feel free to ask.
                      > take care pat
                    • kbrowland2@aol.com
                      ... Yes, but with difficulty. I can walk on my own, but lose my balance easily and sometimes just fall when my leg muscles give out. I am supposed to use my
                      Message 10 of 16 , Jul 16, 2003
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                        In a message dated 7/15/2003 11:12:41 PM Eastern Standard Time, redscootee@... writes:

                        > Are you able to still get around on your own?


                        Yes, but with difficulty. I can walk on my own, but lose my balance easily and sometimes just fall when my leg muscles give out. I am supposed to use my cane at all times, but I'm still a little stubborn about it. The cane isn't a guarantee anyway since I one time kicked it out from under myself and took a nasty fall. I have a very hard time getting up curbs and also have a hard time taking that one step into a house. Luckily for me, my husband is very supportive and doesn't mind giving me a helping hand when I need it, although he sometimes "forgets" me in the street and has to come back to help me up a curb!!
                      • redscootee@webtv.net
                        Amanda, Our family is very fortunate that the mtm is as mild as it is. It hurts my heart that others are not as fortunate. I too understand the genetics of
                        Message 11 of 16 , Jul 17, 2003
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                          Amanda,
                          Our family is very fortunate that the mtm is as mild as it is. It hurts
                          my heart that others are not as fortunate. I too understand the genetics
                          of mtm.
                          Do you know where the mtm came from in your family?We can only go back
                          as far as my mother and that is just an estimated guess. My mother
                          passed away in 87 and we were dx'd with md in 90. She has some of the
                          same symptoms I do. The only comparisons I can make between my son and I
                          are that at his age I was not as affected. I am sure he is going to be
                          worse off than I am. I continue to get weaker but at a much slower rate.
                          It is hard to determine how it would have progressed if I had not ended
                          up in the chair. I have a congenital break in my back. I fell and
                          aggravated it. As a result I cannot walk more than a dozen steps with
                          assistance due to the severe pain. At the time I fell I was still
                          walking. The only difficulty I had was going up stairs and if I fell I
                          could not get up without assistance.
                          Do they think that Jacob will ever get off the trach or the g-tube? Have
                          you checked with some of the docs mentioned on the other list? I know
                          Dr. Bach is good. I also have the name of a lady doc who follows several
                          boys with mtm. I also have an article that appeared in the Quest
                          magazine on our site. If you are interested let me know and I will give
                          you our website url.
                          I hope Jacob continues to get stronger.
                          If you have any questions feel free to ask. Please keep me posted on how
                          Jacob is doing. God Bless pat
                        • redscootee@webtv.net
                          I was the same way when I could walk with my cane...stubborn. lol I even went so far as to buy a purple one (my favorite color) even then I was not keen on
                          Message 12 of 16 , Jul 17, 2003
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                            I was the same way when I could walk with my cane...stubborn. lol I even
                            went so far as to buy a purple one (my favorite color) even then I was
                            not keen on using it.
                            In fact when I first found out I had md I waited a year before I went in
                            to the md clinic to start on the journey to find out what kind we had.
                            The only reason I went in then was cuz I was falling about 3 times a
                            week. I looked worse than a school kid with all the bruises and skinned
                            knees. Not a pretty site at 40. lol
                            My husband is my caregiver since I went out on disability in 96. He used
                            to help me up the curb and stairs before I went in my chair. What do you
                            have to do to have your husband come and get you out of the street? (G)
                            take care pat
                          • amanda Hollingsworth
                            Pat, I would love to have the name of the doc who follows the boys with mtm. Any information would be much appreciated. Unfortunately, we have never
                            Message 13 of 16 , Jul 17, 2003
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                              Pat,
                              I would love to have the name of the doc who follows the boys with mtm.  Any information would be much appreciated.  Unfortunately, we have never encountered a doc who has ever had a patient w/mtm.  Many of them are even relatively inexperienced w/myopathies in general.  So, needless to say, we have taught them much of what they know about Jacob.  As for my family - where do I start?  First of all, my maternal aunt had two son's w/mtm.  The first was born in 1979 and only lived for a few hours.  The second was born in 1981 and lived for 17 months.  This was way before we had this great technology to help our kids right from the start.  My mother's cousin had a son who lived until he was 13.  (There were more unfortunate circumstances surrounding his death aside from mtm.) My mother also had three brothers who all died at birth (in the 50's).  We are not certain of the cause, but with all the boys affected since then, we can safely assume the cause.  I just recently found out that my grandmother was the only survivor of triplets and one was known to be a boy.  So, my family history is quite incredible - unfortunately.  I am still researching further, but have very limited resources.  As for my little, sweet Jacob:  He can't swallow at all.  That is the reason for both the trach and g-tube.  Because he can't handle the massive amounts of saliva that accumulates, he aspirates them.  Also, he has to work a little harder to breathe, so he is on CPAP during sleep and when sick.  The trach allows easy access for that.  Unfortunately he will probably always have both the trach and the g-tube.  But, they are pretty normal things for us now.  (Not that I wouldn't mind having both of them gone!!)  I know they are for the best.  And I know that he can use his energy for growing, learning, and gaining muscle strength. 
                              Take care, Amanda

                              redscootee@... wrote:
                              Amanda,
                              Our family is very fortunate that the mtm is as mild as it is. It hurts
                              my heart that others are not as fortunate. I too understand the genetics
                              of mtm.
                              Do you know where the mtm came from in your family?We can only go back
                              as far as my mother and that is just an estimated guess. My mother
                              passed away in 87 and we were dx'd with md in 90. She has some of the
                              same symptoms I do. The only comparisons I can make between my son and I
                              are that at his age I was not as affected. I am sure he is going to be
                              worse off than I am. I continue to get weaker but at a much slower rate.
                              It is hard to determine how it would have progressed if I had not ended
                              up in the chair. I have a congenital break in my back. I fell and
                              aggravated it. As a result I cannot walk more than a dozen steps with
                              assistance due to the severe pain. At the time I fell I was still
                              walking. The only difficulty I had was going up stairs and if I fell I
                              could not get up without assistance.
                              Do they think that Jacob will ever get off the trach or the g-tube? Have
                              you checked with some of the docs mentioned on the other list? I know
                              Dr. Bach is good. I also have the name of a lady doc who follows several
                              boys with mtm. I also have an article that appeared in the Quest
                              magazine on our site. If you are interested let me know and I will give
                              you our website url.
                              I hope Jacob continues to get stronger.
                              If you have any questions feel free to ask. Please keep me posted on how
                              Jacob is doing. God Bless pat



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                            • kbrowland2@aol.com
                              In a message dated 7/18/2003 1:06:14 AM Eastern Standard Time, ... I just clear my throat and say did you forget something??? He comes back grinning. We do
                              Message 14 of 16 , Jul 18, 2003
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                                In a message dated 7/18/2003 1:06:14 AM Eastern Standard Time, redscootee@... writes:


                                What do you
                                have to do to have your husband come and get you out of the street?


                                I just clear my throat and say "did you forget something???"  He comes back grinning.  We do fine.
                              • redscootee@webtv.net
                                On our website I have several articles on mtm. One of them is with the doc I mentioned. On one of the others it gives her url where you can contact her. Also
                                Message 15 of 16 , Jul 19, 2003
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                                  On our website I have several articles on mtm. One of them is with the
                                  doc I mentioned. On one of the others it gives her url where you can
                                  contact her. Also under our links page there are several sites that you
                                  may find helpful. Dr. Bach is mentioned there and he works quite a bit
                                  with b-paps and with boys with Duchenne's md. He has lots of helpful
                                  information for prolonging life on a vent etc. Here is our site <a
                                  href="http://www.wtv-zone.com/mdaww/indexzep1.html">Wide World of MD</a>
                                  Wow that is something that you have mtm running back in the family that
                                  long. Don't quote me but I think it has only been since 1960's that they
                                  had a name for mtm.
                                  If you have problems getting into the site or can't find things let me
                                  know. We have things listed under three indexes. That is one of the next
                                  projects I am going to work on is getting things straightened around for
                                  easier navigating.
                                  Did you share your website on Jacob on the other group? Would you mind
                                  if I included it on our links page? We have one just to list ppl either
                                  with md or about someone with md. We think it is important to get the
                                  word out on md. I always get the reply oh you have ms. GRRR! I had a doc
                                  say that twice to me in one visit. Needless to say I did not go back to
                                  him nor did I find it very professional.
                                  Anything else you might be looking for let me know and I will see if I
                                  can help.
                                  So glad that Jacob has such a wonderful mommy! take care pat
                                • redscootee@webtv.net
                                  Kathy, You and your hubby sound like me and mine! I try to stay upbeat and make the best of things. Laughing and making lite of things sure does help. When I
                                  Message 16 of 16 , Jul 19, 2003
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                                    Kathy, You and your hubby sound like me and mine! I try to stay upbeat
                                    and make the best of things. Laughing and making lite of things sure
                                    does help.
                                    When I went in the chair and had to go out on disability we made the
                                    choice that my husband would retire early and be my caregiver. It was
                                    the best solution for us. He is my Angel here on earth.
                                    take care pat
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