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40Re: [Myotubular_Myopathy] XMTM

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  • connie guinn
    Apr 21, 2003
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      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.

      --- 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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