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My son may have Myotubular Myopathy

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  • pck0501
    Hello everyone! Glad there is this website. My son Patrick, was born extremely floppy and low-toned. He spent 17 days in the Pediatric ICU where we were told
    Message 1 of 7 , Jun 4 8:01 PM
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      Hello everyone! Glad there is this website. My son Patrick, was born
      extremely floppy and low-toned. He spent 17 days in the Pediatric ICU
      where we were told he would probably die, and if he did not he would
      be severely retarded and disabled and we would probably not be able
      to take care of him. At the end of the 17 days, we recieved Patrick's
      discharge papers and the comment - "Patrick has proven us wrong" -
      and we were sent on our merry way with our son. He has had PT since
      he was 3 1/2 weeks old and has amazed everyone including all the
      professionals. Test after test,and he has been tested for a lot- they
      have all come back negitive. We've been to Neurologists,
      endocronologists, Genetsis,Cardiolgist, Optamologists etc..... No
      answers. He has always gone forward, has never regressed. He is still
      very low toned ( hypotonia). His fine motor skills are perfect.
      Cognitively he is very smart. His gross motor - very bad -at 2years
      old - he cannot walk, or even crawl, can't pull himself up - seems to
      have very weak neck muscles - and still cannot lift his head on his
      stomach - yet when you sit him up or put him in your typical "baby
      walker", he fly across the house.
      I guess what I'm asking is - I need to know how children with this
      disorder grow-up and are there any treatments. Please let me know
      your thoughts and ideas. Despite all he's been through Patrick is a
      happy little boy, and I want to make sure I am prepared for the
      future!

      Thanks.
    • dhahjh
      Hello..We are so glad you found us. I have determined that the best way for me to deal with day-to-day issues with my son is to have contact with other
      Message 2 of 7 , Jun 6 5:51 AM
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        Hello..We are so glad you found us. I have determined that the best
        way for me to deal with day-to-day issues with my son is to have
        contact with other parents who are going through the same things.
        Your son definitely sounds like a typical mtm baby. When will you
        know for sure? Basically, each child is different. There are no
        definitive treatments or therapies. Our son is just treated
        symptomatically and we do also try to stay ahead of the game a
        little by having him tested for certain things he is "at risk for."
        There are some great resources available for information about mtm -
        that is the clinical info. www.mtmrg.org has some fantastic
        articles and information about mtm. There are also a lot of stories
        about families. Another parent, who also belongs to this group, has
        recently started a new web site, www.myotubularmyopathy.org. She is
        interested in getting the new stories out there and also providing a
        place to correspond with other parents. I think what you will find
        is that our boys are growing up and living long, happy lives. I
        have read of one boy who lived until he was 19 or 20. We have the
        new generation of mtm boys and I believe they will out live us.
        Please feel free to ask any questions.

        As for the secretions: my son is on cpap when sleeping. When his
        secretions get too out of hand, I put him on it. This does help
        him. We are slowly trying to get him to used to the PMV. He also
        recently got a larger trach and I could tell a difference the same
        day with his secretions. As for suctioning 3-4 times a minute, I
        have been there. I couldn't even take him to the doctor so they
        could see how bad it was. It was very stressful on him. That is
        when his doctor called in the Robinul. We started him out on a very
        small dose and slowly increased it. We were able to monitor his
        heart rate better and get an idea of how much he could handle.




        --- In Myotubular_Myopathy@yahoogroups.com, "pck0501" <pck0501@a...>
        wrote:
        > Hello everyone! Glad there is this website. My son Patrick, was
        born
        > extremely floppy and low-toned. He spent 17 days in the Pediatric
        ICU
        > where we were told he would probably die, and if he did not he
        would
        > be severely retarded and disabled and we would probably not be
        able
        > to take care of him. At the end of the 17 days, we recieved
        Patrick's
        > discharge papers and the comment - "Patrick has proven us wrong" -
        > and we were sent on our merry way with our son. He has had PT
        since
        > he was 3 1/2 weeks old and has amazed everyone including all the
        > professionals. Test after test,and he has been tested for a lot-
        they
        > have all come back negitive. We've been to Neurologists,
        > endocronologists, Genetsis,Cardiolgist, Optamologists etc..... No
        > answers. He has always gone forward, has never regressed. He is
        still
        > very low toned ( hypotonia). His fine motor skills are perfect.
        > Cognitively he is very smart. His gross motor - very bad -at
        2years
        > old - he cannot walk, or even crawl, can't pull himself up - seems
        to
        > have very weak neck muscles - and still cannot lift his head on
        his
        > stomach - yet when you sit him up or put him in your typical "baby
        > walker", he fly across the house.
        > I guess what I'm asking is - I need to know how children with this
        > disorder grow-up and are there any treatments. Please let me know
        > your thoughts and ideas. Despite all he's been through Patrick is
        a
        > happy little boy, and I want to make sure I am prepared for the
        > future!
        >
        > Thanks.
      • Patricia G
        Our son wasnt real floppy but was very slow at walking and etc. He has Myopathy and is 7,he also is very smart,he has a wheelchair,leg braces and a walker,he
        Message 3 of 7 , Jun 6 6:00 AM
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          Our son wasnt real floppy but was very slow at walking and etc.
          He has Myopathy and is 7,he also is very smart,he has a wheelchair,leg braces and a walker,he can walk but carefully,can't run,can't jump,can't do stairs,he has PT,OT and pool thearpy,he is homebound because in school,he stayed way to sick,he has been in the hosptial LOTS of times with pneaumonia and asmatha
          He is our joy*proud-mama-smile*
          Patricia
           

          pck0501 <pck0501@...> wrote:
          Hello everyone! Glad there is this website. My son Patrick, was born
          extremely floppy and low-toned. He spent 17 days in the Pediatric ICU
          where we were told he would probably die, and if he did not he would
          be severely retarded and disabled and we would probably not be able
          to take care of him. At the end of the 17 days, we recieved Patrick's
          discharge papers and the comment - "Patrick has proven us wrong" -
          and we were sent on our merry way with our son. He has had PT since
          he was 3 1/2 weeks old and has amazed everyone including all the
          professionals. Test after test,and he has been tested for a lot- they
          have all come back negitive. We've been to Neurologists,
          endocronologists, Genetsis,Cardiolgist, Optamologists etc..... No
          answers. He has always gone forward, has never regressed. He is still
          very low toned ( hypotonia). His fine motor skills are perfect.
          Cognitively he is very smart. His gross motor - very bad -at 2years
          old - he cannot walk, or even crawl, can't pull himself up - seems to
          have very weak neck muscles - and still cannot lift his head on his
          stomach - yet when you sit him up or put him in your typical "baby
          walker", he fly across the house.
          I guess what I'm asking is - I need to know how children with this
          disorder grow-up and are there any treatments. Please let me know
          your thoughts and ideas. Despite all he's been through Patrick is a
          happy little boy, and I want to make sure I am prepared for the
          future!

          Thanks.




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          Myotubular_Myopathy-unsubscribe@egroups.com



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        • kristin cypher
          Hello! I have not posted to this board before, but I have been reading the emails since my son was born on March 26th of this year. Sebastian was born floppy
          Message 4 of 7 , Jun 6 12:14 PM
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            Hello!
             
            I have not posted to this board before, but I have been reading the emails since my son was born on March 26th of this year.  Sebastian was born floppy and very raspy, with difficulty controlling his secretions.  He was in the NICU for 29 days, and discharged with an apnea monitor, a suction machine and PT & OT.  Since his thrid week in the hospital, he has been steadily increasing his ability to control his sections, and when he was discharged, it had been several days since the nurses (or my husband and I) had needed to suction him.  At nine weeks old, he still has weakness in his arms, chest and neck, but just this past weekend I was holding him with his stomach to my stomach, and he was able to lift his head from my chest and look around for a few seconds (a big milestone, since we were not sure that he would have the strength to do this for some time).  I know that this kind of progress is really rare with MTM, but I wanted you to know that people are doing some really interesting research into the genetics of MTM, and it seems that depending on the amino acid mutation found in the blood, the disease may have differing degrees of severity.  In the case of Sebastian, his diagnosis of MTM was within the first two weeks of his life, because my mother was present for his birth, and she was shocked to see that he was born with very similar symptoms to my brother.  Although my brother was born the same way (somewhat floppy and raspy) he was just sent home from the hospital after an extra day.  He wasn't diagnosed with MTM until his eye doctor noticed that he could not move his eyes very much.  After many tests, they finally did a muscle biopsy and he was diagnosed with MTM.  This was in the late 1970's, and he is now 26 years old and appears 'normal' except for an inability to move his eyes with the full range of motion.  The thing is, when he was initially diagnosed with MTM, they didn't know it was x-linked, and so my family had no idea that it could be passed on.  But, when Sebastian was born with the same symptoms, somehow my mother remembered the name of the disease that Mark had, and the NICU doctors did some research and told us that it was x-linked.  I was so upset - I had no idea.  At the time, I was really scared - I looked at Mark (my brother) and he seemed so fine, but I read all the info on the web about kids with MTM, and some of the cases seemed so severe.  I was really confused, and didn't know what to expect for Sebi.  In fact, I still don't really know how he will be, but last week I received a call from the genetics doctor that sent a sample of Sebi's blood to the University of Chicago, and she said that when they mapped out his MTM mutation, they found results that they had never seen before.  It turns out that Sebi has a single point amino acid mutation, and the amino acid that was changed was replaced with one that is very similar in size and function.  The geneticist felt that this may be why Sebi is improving so well, and why my brother seems to be so asymptomatic.  Needless to say, my brother is also going to submit his blood to the University of Chicago, and we are going to see if the mutation he has is the same as Sebi's (they feel that it probably will be). 
             
            I guess what I'm trying to say is that one of the things that many parents with boys with MTM seem to struggle with is the question of what will my son be able to do in two years, ten years, etc.  Although I don't know if genetics is the answer to this question, I was surprised to see that they were able to link degrees of severity of MTM to specific amino acid mutations.  Or, at least they were able to surmise that Sebi's MTM may be mild because of the nature of the amino acid mutation.  I don't want to encourage everyone to do this type of test (it is expensive - $2000, but since our insurance bill for Sebi's hospital stay was over $180,000 - and growing - we have already reached the max we could pay for this year, and the test was 'free' for us), but I can see that the more DNA mapping they can do, the more they may be able to tell parents about what to expect for their MTM boys. 
             
            Sorry for all the backstory!  I hope this was helpful info.  I've been hesitant to write to the board because I know that many of the MTM boys have a very hard time, and Sebi is doing so well that I didn't want to make anyone feel bad.  But, I do think that the genetic mapping may be important.  I also would love to know if there are any other parents with boys similar to Sebi.  I would love to talk to you!!
             
            Thank you,
            Kristin

            pck0501 <pck0501@...> wrote:
            Hello everyone! Glad there is this website. My son Patrick, was born
            extremely floppy and low-toned. He spent 17 days in the Pediatric ICU
            where we were told he would probably die, and if he did not he would
            be severely retarded and disabled and we would probably not be able
            to take care of him. At the end of the 17 days, we recieved Patrick's
            discharge papers and the comment - "Patrick has proven us wrong" -
            and we were sent on our merry way with our son. He has had PT since
            he was 3 1/2 weeks old and has amazed everyone including all the
            professionals. Test after test,and he has been tested for a lot- they
            have all come back negitive. We've been to Neurologists,
            endocronologists, Genetsis,Cardiolgist, Optamologists etc..... No
            answers. He has always gone forward, has never regressed. He is still
            very low toned ( hypotonia). His fine motor skills are perfect.
            Cognitively he is very smart. His gross motor - very bad -at 2years
            old - he cannot walk, or even crawl, can't pull himself up - seems to
            have very weak neck muscles - and still cannot lift his head on his
            stomach - yet when you sit him up or put him in your typical "baby
            walker", he fly across the house.
            I guess what I'm asking is - I need to know how children with this
            disorder grow-up and are there any treatments. Please let me know
            your thoughts and ideas. Despite all he's been through Patrick is a
            happy little boy, and I want to make sure I am prepared for the
            future!

            Thanks.




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            Myotubular_Myopathy-unsubscribe@egroups.com



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          • dhahjh
            Hi Kristin. I am really glad to hear your story. I know that there are a lot of sad stories regarding MTM. And then there are boys like Sebastian, and boys
            Message 5 of 7 , Jun 9 5:46 PM
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              Hi Kristin. I am really glad to hear your story. I know that there
              are a lot of sad stories regarding MTM. And then there are boys
              like Sebastian, and boys in between. I think my son falls right in
              the middle. I have always known that there were different degrees
              of severity. Some boys are completely vent dependent, which my son
              never has been. I also know that depending on the mutation, each
              boy may/may not have various secondary problems. Our family's
              mutation has not been identified, but we have many "known"
              carriers. I am trying to get set up with the Chicago lab to have
              gene linkage done in my family to have the mutation identified and
              also identify other possible carriers.

              I think it is great that your son is doing so well. Feel free to
              keep posting to the group and let us know how he does. We (or at
              least I am) are always happy to hear the good things and know that
              boys with MTM are doing well.

              --- In Myotubular_Myopathy@yahoogroups.com, kristin cypher
              <myrkrida@y...> wrote:
              > Hello!
              >
              > I have not posted to this board before, but I have been reading
              the emails since my son was born on March 26th of this year.
              Sebastian was born floppy and very raspy, with difficulty
              controlling his secretions. He was in the NICU for 29 days, and
              discharged with an apnea monitor, a suction machine and PT & OT.
              Since his thrid week in the hospital, he has been steadily
              increasing his ability to control his sections, and when he was
              discharged, it had been several days since the nurses (or my husband
              and I) had needed to suction him. At nine weeks old, he still has
              weakness in his arms, chest and neck, but just this past weekend I
              was holding him with his stomach to my stomach, and he was able to
              lift his head from my chest and look around for a few seconds (a big
              milestone, since we were not sure that he would have the strength to
              do this for some time). I know that this kind of progress is really
              rare with MTM, but I wanted you to know that people are doing some
              really interesting research into the genetics of MTM, and it seems
              that depending on the amino acid mutation found in the blood, the
              disease may have differing degrees of severity. In the case of
              Sebastian, his diagnosis of MTM was within the first two weeks of
              his life, because my mother was present for his birth, and she was
              shocked to see that he was born with very similar symptoms to my
              brother. Although my brother was born the same way (somewhat floppy
              and raspy) he was just sent home from the hospital after an extra
              day. He wasn't diagnosed with MTM until his eye doctor noticed that
              he could not move his eyes very much. After many tests, they
              finally did a muscle biopsy and he was diagnosed with MTM. This was
              in the late 1970's, and he is now 26 years old and appears 'normal'
              except for an inability to move his eyes with the full range of
              motion. The thing is, when he was initially diagnosed with MTM,
              they didn't know it was x-linked, and so my family had no idea that
              it could be passed on. But, when Sebastian was born with the same
              symptoms, somehow my mother remembered the name of the disease that
              Mark had, and the NICU doctors did some research and told us that it
              was x-linked. I was so upset - I had no idea. At the time, I was
              really scared - I looked at Mark (my brother) and he seemed so fine,
              but I read all the info on the web about kids with MTM, and some of
              the cases seemed so severe. I was really confused, and didn't know
              what to expect for Sebi. In fact, I still don't really know how he
              will be, but last week I received a call from the genetics doctor
              that sent a sample of Sebi's blood to the University of Chicago, and
              she said that when they mapped out his MTM mutation, they found
              results that they had never seen before. It turns out that Sebi has
              a single point amino acid mutation, and the amino acid that was
              changed was replaced with one that is very similar in size and
              function. The geneticist felt that this may be why Sebi is
              improving so well, and why my brother seems to be so asymptomatic.
              Needless to say, my brother is also going to submit his blood to the
              University of Chicago, and we are going to see if the mutation he
              has is the same as Sebi's (they feel that it probably will be).
              >
              > I guess what I'm trying to say is that one of the things that many
              parents with boys with MTM seem to struggle with is the question of
              what will my son be able to do in two years, ten years, etc.
              Although I don't know if genetics is the answer to this question, I
              was surprised to see that they were able to link degrees of severity
              of MTM to specific amino acid mutations. Or, at least they were
              able to surmise that Sebi's MTM may be mild because of the nature of
              the amino acid mutation. I don't want to encourage everyone to do
              this type of test (it is expensive - $2000, but since our insurance
              bill for Sebi's hospital stay was over $180,000 - and growing - we
              have already reached the max we could pay for this year, and the
              test was 'free' for us), but I can see that the more DNA mapping
              they can do, the more they may be able to tell parents about what to
              expect for their MTM boys.
              >
              > Sorry for all the backstory! I hope this was helpful info. I've
              been hesitant to write to the board because I know that many of the
              MTM boys have a very hard time, and Sebi is doing so well that I
              didn't want to make anyone feel bad. But, I do think that the
              genetic mapping may be important. I also would love to know if
              there are any other parents with boys similar to Sebi. I would love
              to talk to you!!
              >
              > Thank you,
              > Kristin
              >
              > pck0501 <pck0501@a...> wrote:
              > Hello everyone! Glad there is this website. My son Patrick, was
              born
              > extremely floppy and low-toned. He spent 17 days in the Pediatric
              ICU
              > where we were told he would probably die, and if he did not he
              would
              > be severely retarded and disabled and we would probably not be
              able
              > to take care of him. At the end of the 17 days, we recieved
              Patrick's
              > discharge papers and the comment - "Patrick has proven us wrong" -
              > and we were sent on our merry way with our son. He has had PT
              since
              > he was 3 1/2 weeks old and has amazed everyone including all the
              > professionals. Test after test,and he has been tested for a lot-
              they
              > have all come back negitive. We've been to Neurologists,
              > endocronologists, Genetsis,Cardiolgist, Optamologists etc..... No
              > answers. He has always gone forward, has never regressed. He is
              still
              > very low toned ( hypotonia). His fine motor skills are perfect.
              > Cognitively he is very smart. His gross motor - very bad -at
              2years
              > old - he cannot walk, or even crawl, can't pull himself up - seems
              to
              > have very weak neck muscles - and still cannot lift his head on
              his
              > stomach - yet when you sit him up or put him in your typical "baby
              > walker", he fly across the house.
              > I guess what I'm asking is - I need to know how children with this
              > disorder grow-up and are there any treatments. Please let me know
              > your thoughts and ideas. Despite all he's been through Patrick is
              a
              > happy little boy, and I want to make sure I am prepared for the
              > future!
              >
              > Thanks.
              >
              >
              >
              > Yahoo! Groups Sponsor
              > To unsubscribe from this group, send an email to:
              > Myotubular_Myopathy-unsubscribe@egroups.com
              >
              >
              >
              > Your use of Yahoo! Groups is subject to the Yahoo! Terms of
              Service.
              >
              >
              > ---------------------------------
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            • connie guinn
              Kristin, Hello, my name is Connie. I have two sons born with XMTM. I found your posting very interesting- please tell me more about your brother and
              Message 6 of 7 , Jun 30 10:14 AM
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                Kristin,
                Hello, my name is Connie.  I have two sons born with XMTM.  I  found your posting very  interesting- please tell me more about your brother and Sebastian.  How tall are they?  How much do they (each) weigh?  Do you have any pictures?   Also, is your brother married?  Does he have any children?  ANYTHING  you have to offer, I am interested in learning- please respond.   I am slow at replying, but I will reply.  
                Glad to hear that Sebi is doing so well!  Take care,
                 -Connie  


                kristin cypher <myrkrida@...> wrote:
                Hello!
                 
                I have not posted to this board before, but I have been reading the emails since my son was born on March 26th of this year.  Sebastian was born floppy and very raspy, with difficulty controlling his secretions.  He was in the NICU for 29 days, and discharged with an apnea monitor, a suction machine and PT & OT.  Since his thrid week in the hospital, he has been steadily increasing his ability to control his sections, and when he was discharged, it had been several days since the nurses (or my husband and I) had needed to suction him.  At nine weeks old, he still has weakness in his arms, chest and neck, but just this past weekend I was holding him with his stomach to my stomach, and he was able to lift his head from my chest and look around for a few seconds (a big milestone, since we were not sure that he would have the strength to do this for some time).  I know that this kind of progress is really rare with MTM, but I wanted you to know that people are doing some really interesting research into the genetics of MTM, and it seems that depending on the amino acid mutation found in the blood, the disease may have differing degrees of severity.  In the case of Sebastian, his diagnosis of MTM was within the first two weeks of his life, because my mother was present for his birth, and she was shocked to see that he was born with very similar symptoms to my brother.  Although my brother was born the same way (somewhat floppy and raspy) he was just sent home from the hospital after an extra day.  He wasn't diagnosed with MTM until his eye doctor noticed that he could not move his eyes very much.  After many tests, they finally did a muscle biopsy and he was diagnosed with MTM.  This was in the late 1970's, and he is now 26 years old and appears 'normal' except for an inability to move his eyes with the full range of motion.  The thing is, when he was initially diagnosed with MTM, they didn't know it was x-linked, and so my family had no idea that it could be passed on.  But, when Sebastian was born with the same symptoms, somehow my mother remembered the name of the disease that Mark had, and the NICU doctors did some research and told us that it was x-linked.  I was so upset - I had no idea.  At the time, I was really scared - I looked at Mark (my brother) and he seemed so fine, but I read all the info on the web about kids with MTM, and some of the cases seemed so severe.  I was really confused, and didn't know what to expect for Sebi.  In fact, I still don't really know how he will be, but last week I received a call from the genetics doctor that sent a sample of Sebi's blood to the University of Chicago, and she said that when they mapped out his MTM mutation, they found results that they had never seen before.  It turns out that Sebi has a single point amino acid mutation, and the amino acid that was changed was replaced with one that is very similar in size and function.  The geneticist felt that this may be why Sebi is improving so well, and why my brother seems to be so asymptomatic.  Needless to say, my brother is also going to submit his blood to the University of Chicago, and we are going to see if the mutation he has is the same as Sebi's (they feel that it probably will be). 
                 
                I guess what I'm trying to say is that one of the things that many parents with boys with MTM seem to struggle with is the question of what will my son be able to do in two years, ten years, etc.  Although I don't know if genetics is the answer to this question, I was surprised to see that they were able to link degrees of severity of MTM to specific amino acid mutations.  Or, at least they were able to surmise that Sebi's MTM may be mild because of the nature of the amino acid mutation.  I don't want to encourage everyone to do this type of test (it is expensive - $2000, but since our insurance bill for Sebi's hospital stay was over $180,000 - and growing - we have already reached the max we could pay for this year, and the test was 'free' for us), but I can see that the more DNA mapping they can do, the more they may be able to tell parents about what to expect for their MTM boys. 
                 
                Sorry for all the backstory!  I hope this was helpful info.  I've been hesitant to write to the board because I know that many of the MTM boys have a very hard time, and Sebi is doing so well that I didn't want to make anyone feel bad.  But, I do think that the genetic mapping may be important.  I also would love to know if there are any other parents with boys similar to Sebi.  I would love to talk to you!!
                 
                Thank you,
                Kristin

                pck0501 <pck0501@...> wrote:
                Hello everyone! Glad there is this website. My son Patrick, was born
                extremely floppy and low-toned. He spent 17 days in the Pediatric ICU
                where we were told he would probably die, and if he did not he would
                be severely retarded and disabled and we would probably not be able
                to take care of him. At the end of the 17 days, we recieved Patrick's
                discharge papers and the comment - "Patrick has proven us wrong" -
                and we were sent on our merry way with our son. He has had PT since
                he was 3 1/2 weeks old and has amazed everyone including all the
                professionals. Test after test,and he has been tested for a lot- they
                have all come back negitive. We've been to Neurologists,
                endocronologists, Genetsis,Cardiolgist, Optamologists etc..... No
                answers. He has always gone forward, has never regressed. He is still
                very low toned ( hypotonia). His fine motor skills are perfect.
                Cognitively he is very smart. His gross motor - very bad -at 2years
                old - he cannot walk, or even crawl, can't pull himself up - seems to
                have very weak neck muscles - and still cannot lift his head on his
                stomach - yet when you sit him up or put him in your typical "baby
                walker", he fly across the house.
                I guess what I'm asking is - I need to know how children with this
                disorder grow-up and are there any treatments. Please let me know
                your thoughts and ideas. Despite all he's been through Patrick is a
                happy little boy, and I want to make sure I am prepared for the
                future!

                Thanks.




                To unsubscribe from this group, send an email to:
                Myotubular_Myopathy-unsubscribe@egroups.com



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              • kristin cypher
                Hi Connie! I am so sorry - this is the third time I ve tried to reply to your email, and each time something goes wrong and my message is sent back - arrggh!!
                Message 7 of 7 , Jul 13, 2003
                • 0 Attachment
                  Hi Connie!
                   
                  I am so sorry - this is the third time I've tried to reply to your email, and each time something goes wrong and my message is sent back - arrggh!!  Hopefully the 'thrid time is the charm' and this one will go through!
                   
                  Thank you for your interest in Mark (my brother) and Sebastian (my son).  They are both doing really well!  In regard to your question about their size, they are both tall.  Mark is over 6'3", and Sebi is 27" long at 3.5 months.  They are also both thinner, but I think this has to do with their length.  At least in the case of Sebi, he just doesn't seem to have a chance to get chubby, as he seems to put all his growth energy into length.  Mark, too, finds it harder to gain weight, but when he was 11 or 12, he went through a 'chubby' stage before he grew to his full height.  Several of his friends seemed to go through the same thing, and I think that with some boys, this is just how they grow.  However, since that time, Mark has been fairly trim.
                   
                  Just as a side note, at birth, Sebi was 6 lbs 12 oz, and was 22 inches long.  He now weighs just over 12 lbs, which sounds like a lot to me, but he still just looks long!  Not your typically rolly-polly baby!  =)
                   
                  Mark, unfortunatly, does not seem to be in any rush to get married, and he has no children.  I would love to see him settle down, but at 26 he still feels too young and has "to much to do" to get married and start a family.  However, one of the things that we were told when Sebastian's genetic workup came back is the inheritance pattern for MTM.  For boys with MTM, they have the disease on their x chromosome, so if they have boys (who inherit a y from the father) all of them will be unaffected.  However, if they have girls (who inherit their x chromosome) they will all be carriers.  Although this information isn't relevant to either Mark or Sebi at this time, I really found it interesting, and told Mark about it right away.
                   
                  Thanks again for inquiring about Mark and Sebi.  They are both doing great, and I hope things are well with your boys, too.
                   
                  Kristin
                   
                  PS - I've tried to attach a pic of Sebi to this email - please let me know if it doesn't post!
                  connie guinn <kookla_g@...> wrote:
                  Kristin,
                  Hello, my name is Connie.  I have two sons born with XMTM.  I  found your posting very  interesting- please tell me more about your brother and Sebastian.  How tall are they?  How much do they (each) weigh?  Do you have any pictures?   Also, is your brother married?  Does he have any children?  ANYTHING  you have to offer, I am interested in learning- please respond.   I am slow at replying, but I will reply.  
                  Glad to hear that Sebi is doing so well!  Take care,
                   -Connie  


                  kristin cypher <myrkrida@...> wrote:
                  Hello!
                   
                  I have not posted to this board before, but I have been reading the emails since my son was born on March 26th of this year.  Sebastian was born floppy and very raspy, with difficulty controlling his secretions.  He was in the NICU for 29 days, and discharged with an apnea monitor, a suction machine and PT & OT.  Since his thrid week in the hospital, he has been steadily increasing his ability to control his sections, and when he was discharged, it had been several days since the nurses (or my husband and I) had needed to suction him.  At nine weeks old, he still has weakness in his arms, chest and neck, but just this past weekend I was holding him with his stomach to my stomach, and he was able to lift his head from my chest and look around for a few seconds (a big milestone, since we were not sure that he would have the strength to do this for some time).  I know that this kind of progress is really rare with MTM, but I wanted you to know that people are doing some really interesting research into the genetics of MTM, and it seems that depending on the amino acid mutation found in the blood, the disease may have differing degrees of severity.  In the case of Sebastian, his diagnosis of MTM was within the first two weeks of his life, because my mother was present for his birth, and she was shocked to see that he was born with very similar symptoms to my brother.  Although my brother was born the same way (somewhat floppy and raspy) he was just sent home from the hospital after an extra day.  He wasn't diagnosed with MTM until his eye doctor noticed that he could not move his eyes very much.  After many tests, they finally did a muscle biopsy and he was diagnosed with MTM.  This was in the late 1970's, and he is now 26 years old and appears 'normal' except for an inability to move his eyes with the full range of motion.  The thing is, when he was initially diagnosed with MTM, they didn't know it was x-linked, and so my family had no idea that it could be passed on.  But, when Sebastian was born with the same symptoms, somehow my mother remembered the name of the disease that Mark had, and the NICU doctors did some research and told us that it was x-linked.  I was so upset - I had no idea.  At the time, I was really scared - I looked at Mark (my brother) and he seemed so fine, but I read all the info on the web about kids with MTM, and some of the cases seemed so severe.  I was really confused, and didn't know what to expect for Sebi.  In fact, I still don't really know how he will be, but last week I received a call from the genetics doctor that sent a sample of Sebi's blood to the University of Chicago, and she said that when they mapped out his MTM mutation, they found results that they had never seen before.  It turns out that Sebi has a single point amino acid mutation, and the amino acid that was changed was replaced with one that is very similar in size and function.  The geneticist felt that this may be why Sebi is improving so well, and why my brother seems to be so asymptomatic.  Needless to say, my brother is also going to submit his blood to the University of Chicago, and we are going to see if the mutation he has is the same as Sebi's (they feel that it probably will be). 
                   
                  I guess what I'm trying to say is that one of the things that many parents with boys with MTM seem to struggle with is the question of what will my son be able to do in two years, ten years, etc.  Although I don't know if genetics is the answer to this question, I was surprised to see that they were able to link degrees of severity of MTM to specific amino acid mutations.  Or, at least they were able to surmise that Sebi's MTM may be mild because of the nature of the amino acid mutation.  I don't want to encourage everyone to do this type of test (it is expensive - $2000, but since our insurance bill for Sebi's hospital stay was over $180,000 - and growing - we have already reached the max we could pay for this year, and the test was 'free' for us), but I can see that the more DNA mapping they can do, the more they may be able to tell parents about what to expect for their MTM boys. 
                   
                  Sorry for all the backstory!  I hope this was helpful info.  I've been hesitant to write to the board because I know that many of the MTM boys have a very hard time, and Sebi is doing so well that I didn't want to make anyone feel bad.  But, I do think that the genetic mapping may be important.  I also would love to know if there are any other parents with boys similar to Sebi.  I would love to talk to you!!
                   
                  Thank you,
                  Kristin

                  pck0501 <pck0501@...> wrote:
                  Hello everyone! Glad there is this website. My son Patrick, was born
                  extremely floppy and low-toned. He spent 17 days in the Pediatric ICU
                  where we were told he would probably die, and if he did not he would
                  be severely retarded and disabled and we would probably not be able
                  to take care of him. At the end of the 17 days, we recieved Patrick's
                  discharge papers and the comment - "Patrick has proven us wrong" -
                  and we were sent on our merry way with our son. He has had PT since
                  he was 3 1/2 weeks old and has amazed everyone including all the
                  professionals. Test after test,and he has been tested for a lot- they
                  have all come back negitive. We've been to Neurologists,
                  endocronologists, Genetsis,Cardiolgist, Optamologists etc..... No
                  answers. He has always gone forward, has never regressed. He is still
                  very low toned ( hypotonia). His fine motor skills are perfect.
                  Cognitively he is very smart. His gross motor - very bad -at 2years
                  old - he cannot walk, or even crawl, can't pull himself up - seems to
                  have very weak neck muscles - and still cannot lift his head on his
                  stomach - yet when you sit him up or put him in your typical "baby
                  walker", he fly across the house.
                  I guess what I'm asking is - I need to know how children with this
                  disorder grow-up and are there any treatments. Please let me know
                  your thoughts and ideas. Despite all he's been through Patrick is a
                  happy little boy, and I want to make sure I am prepared for the
                  future!

                  Thanks.




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