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Re: [Myotubular_Myopathy] New to List

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  • 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 1 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 2 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 3 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 4 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 5 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 6 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 7 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 8 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 9 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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