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Re: [Mito] Digest Number 727

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  • Kathy Corley
    Hi - I am on digest, so you may have already received responses . . . but just in case . . . Kristine - I think that it might be easier to ask who has NOT had
    Message 1 of 6 , Nov 1, 2000
      Hi - I am on digest, so you may have already received responses . . . but
      just in case . . .

      Kristine - I think that it might be easier to ask who has NOT had a sweat
      chloride test. I think many of mito kids are suspected of having cystic
      fibrosis at one time or another prior to diagnosis, and some even after
      diagnosis. There is some overlap between the symptoms. I also know of some
      mito kids who have trouble with staph and pseudomonas. However, the test is
      very very easy and non-invasive. They place a little collection disk on the
      child's arm. It "wicks" away sweat for about 20 minutes or so, and that is
      it. We had results nearly immediately. Alex has actually had this done two
      times (maybe three, but I cannot remember without looking.)

      Wendy - Anna Divincino is a nurse practitioner who works in Dr. Cohen's
      office. She is very nice and quite knowledgeable about mito. She will take
      history and questions, review them with Dr. Cohen, then Dr. Cohen will come
      in briefly at the end of the visit to address those questions. Well, if it
      goes like our recent visit did . . .

      Kathy
      mom to Sarah, Alex (Complex I and III), and Meg
    • kabanaman@aol.com
      My daughter had a liver biopsy done and did just fine. She had to remain still laying down on that side for about 1-2 hrs (It s been a while so I can t quite
      Message 2 of 6 , Nov 1, 2000
        My daughter had a liver biopsy done and did just fine. She had to remain
        still laying down on that side for about 1-2 hrs (It's been a while so I
        can't quite remember how long) to make sure the bleeding had stopped. Her
        results from her liver biopsy (absolutely conclusive of metabollic disease
        with prolifferation of endoplasmic reticulum, paracrystalline inclusions,
        abnormal mitochondria, paucity of interlobular bile ducts) and her muscle
        biopsy (myofibril variability only, otherwise normal) were not congruent so
        we are still clueless as to what exactly is wrong with our daughter (some
        sort of metabollic disease but we have stopped testing etc.). It's been
        awhile since we have seen any genetic specialists (besides the necessary
        maintenance docs). Hope you have better luck with the results. Any questions
        please feel to write, I'll try to answer but it has been awhile (3 years or
        so).

        Sue (mom to Holly and Hayley, hydrocephalus, ASD heart defect, seizures, mild
        bilat. hearing losses, hypotonia, mild mental retardation, mild liver
        dysfunctioning, strabismus, hypoglycemia -not able to control very well)

        One thing I just thought of that might be helpfull...there are two types- a
        needle biopsy and a wedge biopsy. Hayley had the needle and now they wish
        they did the wedge because they could tell a lot more from a larger speci.
        They were asking to obtain another but we declined after a terrible wasted
        trip to see Dr. Schoffner. Maybe it would be better to get a larger speci the
        first time...just a thought.
      • Ginny581@aol.com
        Sue, my daughter was seen at Dr. Shoffner s clinic as well, although we did not get to see him. Do you mind if I ask why you thought your visit was wasted?
        Message 3 of 6 , Nov 1, 2000
          Sue, my daughter was seen at Dr. Shoffner's clinic as well, although we did
          not get to see him. Do you mind if I ask why you thought your visit was
          wasted? Were they unable to do anything? I am so sorry to hear about your
          difficulties. Your poor children (and you) have obviously gone through a
          great deal.

          Virginia, Mom to Emma, age 14 months (Complex I defect, unknown origin)
        • USAQUIXTAR@aol.com
          Sue, I just was curious about your daughters conditions because they are so similar to my daughters. My 2 year old has PDA defect, seizure disorder, autism
          Message 4 of 6 , Nov 3, 2000
            Sue,

            I just was curious about your daughters' conditions because they are so
            similar to my daughters.  My 2 year old has PDA defect, seizure disorder,
            autism (so far), and my 3 1/2 year old has ASD, seizure disorder, and
            Kawasaki Disease.  We still don't know about hypoglycemia in my youngest.  
            She definitely has food allergies though and is very hyper at times.  I can't
            figure out if she is just seeking out joint compression or she just has a ton
            of energy.  By the way, have you had any experience with phenobarbitol (good
            or bad?)   My 2 year old (Maddy) has been taking it since birth, but we are
            thinking Tegretol might be a better alternative.  Do you (or does anybody)
            know whether phenobarb can interfere with speech development or cause
            hyperactivity?  I know these are best directed towards a neurologist, but
            thought maybe someone had some personal experience to share.

            Thanks,

            Jayne (Carly and Maddy's mom!)
          • jayvelde@cs.com
            Jayne, my daughter, Chelsea, takes phenobarb and I remember reading warnings that it will cause hyperactivity in children, particularly those who are already
            Message 5 of 6 , Nov 4, 2000
              Jayne, my daughter, Chelsea, takes phenobarb and I remember reading warnings
              that it will cause hyperactivity in children, particularly those who are
              already on the hyper side. It has the complete opposite effect on Chelsea.
              She's been on it for a year. At first, it would zonk her so bad, she didn't
              want to do anything. It was so depressing. Now, she crashes out an hour after
              taking it and sleeps it off in a few hours. Phenobarb is also associated with
              learning disabilities, especially with long term use. Our neuro, however,
              feels it's the best option for Chelsea, because we do not know what's going
              on with her metabolically. A good place to research meds is www.rxlist.com.

              Kristine, chelsea's mom(non-specific mito)
            • USAQUIXTAR@aol.com
              Awesome info! Thank you so much. Jayne
              Message 6 of 6 , Nov 4, 2000
                Awesome info!  Thank you so much.  

                Jayne
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