Loading ...
Sorry, an error occurred while loading the content.

Re: [Myotubular_Myopathy] XMTM

Expand Messages
  • 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 1 of 5 , Mar 27, 2003
    • 0 Attachment
      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



      Yahoo! Groups Sponsor



      ADVERTISEMENT








      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.
    • 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 2 of 5 , Apr 4 9:49 PM
      • 0 Attachment

         

         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.
                                                            
                                                            
                                                            
                                                            
                                



        Do you Yahoo!?
        Yahoo! Platinum - Watch CBS' NCAA March Madness, live on your desktop!
      • 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 3 of 5 , Apr 7 11:53 AM
        • 0 Attachment
          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.









          ---------------------------------
          Do you Yahoo!?
          Yahoo! Platinum - Watch CBS' NCAA March Madness, live on your desktop!


          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.








          Do you Yahoo!?
          Yahoo! Platinum - Watch CBS' NCAA March Madness, live on your desktop!

          Yahoo! Groups Sponsor




          ADVERTISEMENT







          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.
        • 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 4 of 5 , Apr 21 5:32 PM
          • 0 Attachment
            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
            >
            >
            >


            __________________________________________________
            Do you Yahoo!?
            The New Yahoo! Search - Faster. Easier. Bingo
            http://search.yahoo.com
          Your message has been successfully submitted and would be delivered to recipients shortly.