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Re: [Myotubular_Myopathy] New to List

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  • 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 1 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 2 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 3 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 4 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 5 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 6 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 7 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 8 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 9 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 10 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 11 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 12 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 13 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 14 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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