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Re: [Myotubular_Myopathy] Hi

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    Hi, I agree with Amanda. It sounds like your sister has the autosomal recessive type. My grandson, Kyle, has X linked-MTM. We are expecting another
    Message 1 of 8 , Jun 8, 2005
      I agree with Amanda.  It sounds like your sister has the autosomal recessive type.   My grandson,
      Kyle, has X linked-MTM.  We are expecting another grandson in October who also has the Xlinked-MTM.  This we found out through genetic testing. If you really want to know if there is a possiblity of you having a child with this, then you should have the genetic testing.  There is a 1 in 2 chance you may or may not be a carrier.  If you are a carrier with the genetic testing you can be better prepared for when you do have children.
      We wish you and your sister all the best.  We will keep her in our prayers.
      ----- Original Message -----
      Sent: Tuesday, June 07, 2005 10:47 PM
      Subject: [Myotubular_Myopathy] Hi

          I started writting this giving a backgroung, but I decided that
      was not so important so here is a synopsis. I am the first child of
      3 girls.  My youngest sister was Dx w/ myotubular myopathy within
      her first 3 months of life.  SHe was born 12/3/1989.
          During her life she has had multiple respiratory problems that
      have prompted hospitalizations and surgeries.  SHe has a g tube d/t
      aspirations and a trach.  SHe has also had scolisis surgery and
      others that I can't think of right now.  She gained strenghth for
      several years. I recall when she was a toddler she would scoot
      across the floor on her bottom.  She could sit up by herslef and was
      in PT to gain strenght to posssibly stand. Then she got pneumonis
      and was trached. SHe has never gained back that strentgh. FOr a long
      time though she reached a plateu in which she sat up with a little
      support and sometimes by herself, eat a little without difficulties
      (this is not for nutriton but for socializing), reun her elec
      wheelchair, and raise and lower her arms from the elbows to hands by
      herslef to scratch or move her glasses or whatever (at this time she
      did not have strenght to raise are w. shoulder.
           About 2 years ago she started becoming weaker instead of being
      on the vent at night it is all day now (her vent is a bi pap/cpap
      not a ventilator). She needs help to raise her arm to move her
      glasses.  She sits up with support only and although she has steel
      rods inher back she is leaning over to the left when she sits up so
      she not only requires supprt behain but beside her as well.  She can
      still feed herself as long as her elbows are on the table and she
      only had to raise and lower her hand to the plate.  At times though
      she is too weak to eat or even sit up.  She requires more and more
      frequent suctioning of the trach.
         She has alliveatedd many respiratory illnesses by homeschooling
      but recently her lung collapsed and then she accuired psedomonious
      for the 3-4 time with staph as well.  This time it are worse than
      ever.  The DR wanted IV meds which he tries to get out of d/t
      difficulty getting IV and PICC lines in.  This time they could not
      get either and a port was placed. She just finished her IV therapy
      Friday so I hope she is completely over it.  Her pulmonologist told
      my mom when the trach was placed we had probably bought her 10 more
      years and we are coming to the end of the end of the ten years.  HE
      gets blunt with mom because otherwise things don't sink in. So as we
      have experienced her whole life the doctor is telling us she is
      going to die, but we all will die someday I'm tiresd of hearing
      she'll never make it out of the hospital, she won't live to be 3,
      she will never be a teenager, she doesn' have much longer.  I just
      am happy for everyday we have with her.
          I do not know which type of MTM she had d't my mom does not know
      or maybe does not remember.  WHen looking through information she
      does not seem to fit any type to me.  I wonder is there are any
      female out there like her.  I read about boys like her.
          Also I am 24 years old and engaged we are going to want
      children.  My mom says we do not need genetic testing, but I wonder
      if we do.  I do not wasnt to bring a child into this world with
      MTM.  Although my sister has a great attitude and is a straight A
      student her life has been so hard I don't want my children to have
      to live through this. Does anyone know?

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