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XMTM

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  • evilpixiecat
    I have a son who was born 8 weeks prem who has been formally diagnosed with XMTM, they have found the mutation and our genetisist says there is only one other
    Message 1 of 5 , Mar 21 11:38 PM
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      I have a son who was born 8 weeks prem who has been formally
      diagnosed with XMTM, they have found the mutation and our genetisist
      says there is only one other boy with Jack's mutation, as there is
      around 200 hundred different mutations that have been found.
      apparently his mutation is usually associated with the severest form,
      however the other boy in europe was aged 16 in 1997 when this paper
      was written.
      We all know that each child is different and they improve
      differently, but i am desperatley seeking other parents with children
      as special as ours.
      I am from Australia and i just started to get in contact with the
      Scoggins and the Frase's. but as we are all so busy with our
      beautiful boys contact is slow in coming.

      My son Jack is 6 months old, but only just 4 months corrected. he was
      ventilated at birth and remained vented for 5 weeks, then he was put
      on CPAP. He eventually was weaned down to CPAP of 5. Since birth he
      has only been on air, apart from suctioning etc.
      we tried him off the CPAP for 1 1/2 morning and eveing. but he failed
      to gain weight so we stopped.
      His Improvements have been great his arms and legs are getting
      stronger and he reaches out for toys and can hold his head
      momentarily, and is improving in this.
      However he swallow isnt productive. he can cough and bring up his
      secretions to be suctions. I would says his eyes are unaffected apart
      from some occassional partial eye closure some nights.
      And he hasnt been 'trached. we are hoping to avoid it. but if jack
      gets to the point of not developing from having the nasal phar tube
      in and he seems not to be getting off the CPAP for extended Periods
      we will trach him.
      i would like to know if a trach will help come off the CPAP as in
      making the airway bigger.

      I have so many questions, so few people in contact with.
      I hope i can speak to any of you.
      Jessica
    • robert.shapiro@JPMchase.com
      Hi Jessica, Our son Jay Jay is 5 almost 6 years old and also has XMTM. He has a trach and a Mickey Button(G-tube). He cannot swallow at all. He also has a
      Message 2 of 5 , Mar 27 9:00 AM
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        Hi Jessica,
        Our son Jay Jay is 5 almost 6 years old and also has XMTM. He has a trach
        and a Mickey Button(G-tube). He cannot swallow at all. He also has a
        Passey-muir valve which covers his trach and allows him to speak while
        still inhaling through the trach. He had to be intubated 5 or 6 times
        before we gave him the trach. He was about 4 months old when he was
        trached. It has undoubtedly saved his life but of course if not needed
        don't get it. Our son is on a vent at night and when he is sick or just
        tired in the day. If you don't need a vent you probably don't need a trach.
        There are other things we have heard about like a cough-a-later which helps
        children with a weak cough. You might look into this and ask your
        pulmonologist. Jay Jay gets treatments with a nebulizer (albuterol and
        Intal) these seem to help him a lot. He also take singulair. Jay Jay is
        very happy and bright and goes to school (1/2 a day) He is off the vent at
        school. He can sit up unsupported but cannot walk. He is very good with a
        computer and works the mouse quite well. Please feel free to ask about
        anything that you wish.
        Regards,
        Bob Sherry and Jay Jay



        "evilpixiecat"
        <evilpixiecat@ To: Myotubular_Myopathy@yahoogroups.com
        yahoo.com> cc:
        Subject: [Myotubular_Myopathy] XMTM
        03/22/03 02:38
        AM
        Please respond
        to
        Myotubular_Myo
        pathy






        I have a son who was born 8 weeks prem who has been formally
        diagnosed with XMTM, they have found the mutation and our genetisist
        says there is only one other boy with Jack's mutation, as there is
        around 200 hundred different mutations that have been found.
        apparently his mutation is usually associated with the severest form,
        however the other boy in europe was aged 16 in 1997 when this paper
        was written.
        We all know that each child is different and they improve
        differently, but i am desperatley seeking other parents with children
        as special as ours.
        I am from Australia and i just started to get in contact with the
        Scoggins and the Frase's. but as we are all so busy with our
        beautiful boys contact is slow in coming.

        My son Jack is 6 months old, but only just 4 months corrected. he was
        ventilated at birth and remained vented for 5 weeks, then he was put
        on CPAP. He eventually was weaned down to CPAP of 5. Since birth he
        has only been on air, apart from suctioning etc.
        we tried him off the CPAP for 1 1/2 morning and eveing. but he failed
        to gain weight so we stopped.
        His Improvements have been great his arms and legs are getting
        stronger and he reaches out for toys and can hold his head
        momentarily, and is improving in this.
        However he swallow isnt productive. he can cough and bring up his
        secretions to be suctions. I would says his eyes are unaffected apart
        from some occassional partial eye closure some nights.
        And he hasnt been 'trached. we are hoping to avoid it. but if jack
        gets to the point of not developing from having the nasal phar tube
        in and he seems not to be getting off the CPAP for extended Periods
        we will trach him.
        i would like to know if a trach will help come off the CPAP as in
        making the airway bigger.

        I have so many questions, so few people in contact with.
        I hope i can speak to any of you.
        Jessica



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      • evil pixie
        Hi Bob, Wow your jay jay s dad. i have your story in a folder at home of your precious son. i didnt think he was 5 almost six. sounds like he is doing well. as
        Message 3 of 5 , Apr 4, 2003
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           Hi Bob,

          Wow your jay jay's dad. i have your story in a folder at home of your precious son.

          i didnt think he was 5 almost six. sounds like he is doing well.

          as replying to your email regarding a trach. does anybody know or in your experience when "one of our" kids gets trached, breathing it easier? as in if they were vented before hand do they come off for periods alot easier after a ttrach?

          I have figured our boys must have a degree of floppy airways, is it noted or known a trachy will help with breathing? 

          I feel like i am in limbo as all i have read, at jacks age kids are either fully vented or dont require any support at his age. As he is on CPAP, constant. periods where tried off 4 months ago but he wasnt coping well and not gaining weight.

          I must go, i will keep in contact. we are finally moving into a house after being at ronald mac donald house for 7 months!!! once i am on the net i will write.
          take care Jess.
                                                              
                                                              
                                                              
                                                              
                                  



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        • robert.shapiro@JPMchase.com
          Hi Jess and Jack, Breathing with a trach is much easier because you bypass the mouth and nose area which are very complicated parts of our bodies. However,
          Message 4 of 5 , Apr 7, 2003
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            Hi Jess and Jack,
            Breathing with a trach is much easier because you bypass the mouth and
            nose area which are very complicated parts of our bodies. However, with a
            trach you have to be careful of infection and you have to have lots of
            trach care. We change Jay Jay's trach once a week and we change his trach
            dressings (gauze around the trach area) twice a day. I think we do these
            things more often then necessary but he is doing well. The trach actually
            makes the airway a little smaller because the trach itself takes up room.
            A big advantage of the trach is that we can suction out secretions through
            the trach. When Jay Jay gets sick he is too weak to cough properly so we
            have to suction out his secretions. How does Jack eat? Do you feed him by
            mouth or through a G-Tube? Jay Jay can not swallow so he needs a G-tube.
            Again, before making any decisions you should talk to your pulmonologist
            and your ENT doctors to ask their advise. One thing I want to tell you is
            that Jay Jay is a great Kid and always gives us great joy. He has taught
            us what is important in life.
            Please feel free to stay in contact and ask any questions that you want.
            Bob Sherry and Jay Jay



            evil pixie
            <evilpixiecat@ To: Myotubular_Myopathy@yahoogroups.com
            yahoo.com> cc:
            Subject: Re: [Myotubular_Myopathy] XMTM
            04/05/03 12:49
            AM
            Please respond
            to
            Myotubular_Myo
            pathy








            Hi Bob,

            Wow your jay jay's dad. i have your story in a folder at home of your
            precious son.

            i didnt think he was 5 almost six. sounds like he is doing well.

            as replying to your email regarding a trach. does anybody know or in your
            experience when "one of our" kids gets trached, breathing it easier? as in
            if they were vented before hand do they come off for periods alot easier
            after a ttrach?

            I have figured our boys must have a degree of floppy airways, is it noted
            or known a trachy will help with breathing?

            I feel like i am in limbo as all i have read, at jacks age kids are either
            fully vented or dont require any support at his age. As he is on CPAP,
            constant. periods where tried off 4 months ago but he wasnt coping well and
            not gaining weight.

            I must go, i will keep in contact. we are finally moving into a house after
            being at ronald mac donald house for 7 months!!! once i am on the net i
            will write.
            take care Jess.









            ---------------------------------
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            Hi Bob,


            Wow your jay jay's dad. i have your story in a folder at home of your
            precious son.


            i didnt think he was 5 almost six. sounds like he is doing well.


            as replying to your email regarding a trach. does anybody know or in your
            experience when "one of our" kids gets trached, breathing it easier? as in
            if they were vented before hand do they come off for periods alot easier
            after a ttrach?


            I have figured our boys must have a degree of floppy airways, is it noted
            or known a trachy will help with breathing?


            I feel like i am in limbo as all i have read, at jacks age kids are either
            fully vented or dont require any support at his age. As he is on CPAP,
            constant. periods where tried off 4 months ago but he wasnt coping well and
            not gaining weight.


            I must go, i will keep in contact. we are finally moving into a house after
            being at ronald mac donald house for 7 months!!! once i am on the net i
            will write.
            take care Jess.








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          • connie guinn
            Jessica, Hello! My name is Connie. I have a son, Benjamin, who was born with MTMX. He is 7 months old, trached, and has been on room air since he was born,
            Message 5 of 5 , Apr 21, 2003
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              Jessica,
              Hello! My name is Connie.
              I have a son, Benjamin, who was born with MTMX. He is
              7 months old, trached, and has been on room air since
              he was born, and has been on CPAP. It seems as if we
              have a lot in common and will be able to exchange lots
              of experiences (when there's time!) Benjamin got his
              trach when he was 1 1/2 mos old. I believe that the
              trach is so much easier on them for several reasons:
              1) there is less trauma to thier tissues 2) there is
              less fear about it coming out because, if it does fall
              out, it can be replaced easily (by anyone) whereas
              only a physician or nurse practitioner can replace an
              endotracheal tube 3) with an endotracheal tube, you
              will likely never get the opportunity to fully hear
              your son's voice the way you can with a tracheotomy.
              It's no guarantee that you will, but the likelyhood is
              greater. Also, please know that a tracheotomy is
              not a permanent thing- if warranted, it can be taken
              out (called decanulation), and the stoma on the neck
              will heal up and form a small scar (it kinda looks
              like a smiley face). It certaily can't hurt- I mean,
              if your son is needing some sort of pulmonary
              support(regardless of what kind), then this is
              definitely an option worth checking out. How much
              did your son weigh when he was born? What was his
              length? Was he full term? Did you have excessive
              amniotic fluid during your pregnancy? What is his
              height and weight now? Do you have any other
              children? Benjamin was born on Sept 12, 2002 in
              Houston, Tx. he weighed 7lbs 5.5oz and was 20&1/2
              inches long. He was born at exactly 39 weeks
              gestation. I did have excessive fluid during my
              pregnancy- to the point that the last five days before
              he was born, he was continually turning from the 'head
              up' position to the 'head down' position (as confirmed
              by ultrasound),yet, I had no knowledge that he was
              turning like that except for the ultrasound images!
              Now, Benjamin is 31 inches long and weighs over 21
              pounds- he is enormous! I do have another child, a
              daughter, LeeAnn. Write when you can. I understand
              the time restraints. I, myself, am writing this from
              the Ronald McDonald House. Take care.
              Congratulations on your wonderful, amazing son. I am
              so excited to find someone else who has an infant with
              MTMX! The information everyone with older boys
              supplies is helpful, but it can be very hard to
              vividly remember back to these early days. i hope we
              both can benefit from one another.

              -Connie
              --- evilpixiecat <evilpixiecat@...> wrote:
              > I have a son who was born 8 weeks prem who has been
              > formally
              > diagnosed with XMTM, they have found the mutation
              > and our genetisist
              > says there is only one other boy with Jack's
              > mutation, as there is
              > around 200 hundred different mutations that have
              > been found.
              > apparently his mutation is usually associated with
              > the severest form,
              > however the other boy in europe was aged 16 in 1997
              > when this paper
              > was written.
              > We all know that each child is different and they
              > improve
              > differently, but i am desperatley seeking other
              > parents with children
              > as special as ours.
              > I am from Australia and i just started to get in
              > contact with the
              > Scoggins and the Frase's. but as we are all so busy
              > with our
              > beautiful boys contact is slow in coming.
              >
              > My son Jack is 6 months old, but only just 4 months
              > corrected. he was
              > ventilated at birth and remained vented for 5 weeks,
              > then he was put
              > on CPAP. He eventually was weaned down to CPAP of 5.
              > Since birth he
              > has only been on air, apart from suctioning etc.
              > we tried him off the CPAP for 1 1/2 morning and
              > eveing. but he failed
              > to gain weight so we stopped.
              > His Improvements have been great his arms and legs
              > are getting
              > stronger and he reaches out for toys and can hold
              > his head
              > momentarily, and is improving in this.
              > However he swallow isnt productive. he can cough and
              > bring up his
              > secretions to be suctions. I would says his eyes are
              > unaffected apart
              > from some occassional partial eye closure some
              > nights.
              > And he hasnt been 'trached. we are hoping to avoid
              > it. but if jack
              > gets to the point of not developing from having the
              > nasal phar tube
              > in and he seems not to be getting off the CPAP for
              > extended Periods
              > we will trach him.
              > i would like to know if a trach will help come off
              > the CPAP as in
              > making the airway bigger.
              >
              > I have so many questions, so few people in contact
              > with.
              > I hope i can speak to any of you.
              > Jessica
              >
              >
              >


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