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Re: [Myotubular_Myopathy] My son may have Myotubular Myopathy

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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 1 of 7 , Jun 6, 2003
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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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    • 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 2 of 7 , Jun 9, 2003
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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
        >
        >
        >
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        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 3 of 7 , Jun 30, 2003
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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.




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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 4 of 7 , Jul 13, 2003
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            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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