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2000th post

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  • Maurizio
    I just wanted be the poster of the 2000th message, do i win a prize or somthing? But on a serious note, it is taking for ever to get a diagnosis for our boys,
    Message 1 of 10 , Aug 6, 2005
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      I just wanted be the poster of the 2000th message, do i win a prize
      or somthing?

      But on a serious note, it is taking for ever to get a diagnosis for
      our boys, I spoke to a geneticist and he told me that Marconi's
      blood has been sent to Germany and they are doing quite an extensive
      screening of his DNA, he also said that it would be hard to predict
      just how long it would all take as if they find the mutation near
      the beginning of the "book" it would result in us getting a
      diagnosis quite soon, if however they find the mutation near the end
      of the "book" it could take many months, and that is assuming that
      they know of the specific mutation, if it is a new mutation or
      unknown mutation then we may have to resort to the muscle biopsy
      test, there is another way called linkage analysis that can be done
      if we have more then one affected boy in the family, but in order to
      do this they have to be sure that it is MTM1 and not some other
      condition, I don't really know why we need a diagnosis, as it will
      not change the way we or the Dr's care for our boys, it will however
      help us to predict how the condition will effect them in later life,
      we know that MTM1 is thought to be non progressive, some other
      conditions are progressive and can lead to long term problems, so in
      that respect we are hoping that it is MTM1, and lets face it from
      the boys symptoms as well as the fact that only boys in the family
      are born this way, this makes me about 99% sure that it is MTM1.

      We will just have to wait and see.

      Thank you all

      Moz & Rachel
    • Shannon
      Moz and Rachel, Congratulations on being the 2000th post. I can t believe that there are that many posts! Wow! When Javad got his diagnosis, we actually got it
      Message 2 of 10 , Aug 6, 2005
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        Moz and Rachel,

        Congratulations on being the 2000th post. I can't believe that there
        are that many posts! Wow!

        When Javad got his diagnosis, we actually got it through muscle
        biopsy. They can diagnose by biopsy because of the shape of the muscle
        cell. When we had his blood sent in to find the mutation, it came back
        that he did "not have Centromuclear (MTM)". I was shocked,
        surprised...I asked the doctor how it could be found that he was not
        affected when the biopsy said he was. He said that only approximately
        70% of the mutations have been identified, so we would have to wait
        until more have been identified for Javad to have his mutation
        pinpointed. After we know, we can find out if I am a carrier, my
        daughter is a carrier and so on. Hope that helps! :)

        On another note, Javad is doing well. He is finally over the
        pseudomonas and is being weaned off the vent. So far we are up to
        between 2 and 2 1/2 hours twice a day. I am trying not to be
        impatient, but it is hard! He is feeling well!

        A questions, are any of the boys on prednisone? Javad's pulmo have him
        on it once a day. It seems to help although it makes it had for him to
        sleep and kind of manic! :)

        I am finishing up my three week class (Math Camp!) at Oregon State
        University at the end of this next week. It has been good, but kin of
        hard to be away from home during the week. Javad clearly has missed me
        and its not the same being away.

        Well, hope all is well!

        Shannon
      • ANN MILLER
        Hi Moz and Rachel, Congrats on being the 2000th message. No prizes, just helpful info I hope. Kyle had a muscle biopsy done when he was 3 weeks old. We had
        Message 3 of 10 , Aug 7, 2005
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          Hi Moz and Rachel,
           
          Congrats on being the 2000th message.  No prizes, just helpful
          info I hope. 
           
          Kyle had a muscle biopsy done when he was 3 weeks old.  We
          had an answer in 4 weeks. His blood test never showed any-
          thing until they compared the biopsy results with the retesting
          of his blood.  Because of the info we got from the biopsy they
          were able to tell that his brother -to-be will also have MTM.  
          Conner (Kyle's brother) is due to arrive around October 17th. 
           
          Hopefully, you will have an answer soon.  I know the waiting
          is the hardest part. 
           
          Take care,
          Darlene 
           
           
           
          ----- Original Message -----
          From: Maurizio
          Sent: Saturday, August 06, 2005 2:50 PM
          Subject: [Myotubular_Myopathy] 2000th post

          I just wanted be the poster of the 2000th message, do i win a prize
          or somthing?

          But on a serious note, it is taking for ever to get a diagnosis for
          our boys, I spoke to a geneticist and he told me that Marconi's
          blood has been sent to Germany and they are doing quite an extensive
          screening of his DNA, he also said that it would be hard to predict
          just how long it would all take as if they find the mutation near
          the beginning of the "book" it would result in us getting a
          diagnosis quite soon, if however they find the mutation near the end
          of the "book" it could take many months, and that is assuming that
          they know of the specific mutation, if it is a new mutation or
          unknown mutation then we may have to resort to the muscle biopsy
          test, there is another way called linkage analysis that can be done
          if we have more then one affected boy in the family, but in order to
          do this they have to be sure that it is MTM1 and not some other
          condition, I don't really know why we need a diagnosis, as it will
          not change the way we or the Dr's care for our boys, it will however
          help us to predict how the condition will effect them in later life,
          we know that MTM1 is thought to be non progressive, some other
          conditions are progressive and can lead to long term problems, so in
          that respect we are hoping that it is MTM1, and lets face it from
          the boys symptoms as well as the fact that only boys in the family
          are born this way, this makes me about 99% sure that it is MTM1.

          We will just have to wait and see.

          Thank you all

          Moz & Rachel 





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        • ANN MILLER
          Hi Shannon, Glad Javad is doing better. Why do they have him on the prednisone? Asthma or inflamation? Will it be a long term or short term thing? The
          Message 4 of 10 , Aug 7, 2005
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            Hi Shannon,
             
            Glad Javad is doing better.  Why do they have him on the prednisone?
            Asthma or inflamation?  Will it be a long term or short term thing? 
            The doctors at Children's put Kyle on it one time when he was in the
            hospital.  His regular pulmo took him off.  He said the side effects were
            to great for what they had him on it for.    Kyle was on it for inflamation
            of the lungs.  Long term can cause several side effects that this boys
            don't need.   Look up this medication and check the side effects.  Ask
            your doctor if  there is anything else you can try first.  I would use this
            medicine as a last resort.  This is just my opinion though. 
             
            Hopefully, Javad will be back to his old self in know time.  Just remember
            that with the trach, he is learning to breath a different way. 
             
            Glad your workshop is going good.   I'm sure Javad loves having you
            home on weekends.  I'm glad you can do that. 
             
            Love,
            Darlene
             
            ----- Original Message -----
            From: Shannon
            Sent: Sunday, August 07, 2005 2:02 AM
            Subject: [Myotubular_Myopathy] Re: 2000th post

            Moz and Rachel,

            Congratulations on being the 2000th post. I can't believe that there
            are that many posts! Wow!

            When Javad got his diagnosis, we actually got it through muscle
            biopsy. They can diagnose by biopsy because of the shape of the muscle
            cell. When we had his blood sent in to find the mutation, it came back
            that he did "not have Centromuclear (MTM)". I was shocked,
            surprised...I asked the doctor how it could be found that he was not
            affected when the biopsy said he was. He said that only approximately
            70% of the mutations have been identified, so we would have to wait
            until more have been identified for Javad to have his mutation
            pinpointed. After we know, we can find out if I am a carrier, my
            daughter is a carrier and so on. Hope that helps! :)

            On another note, Javad is doing well. He is finally over the
            pseudomonas and is being weaned off the vent. So far we are up to
            between 2 and 2 1/2 hours twice a day. I am trying not to be
            impatient, but it is hard! He is feeling well!

            A questions, are any of the boys on prednisone? Javad's pulmo have him
            on it once a day. It seems to help although it makes it had for him to
            sleep and kind of manic! :)

            I am finishing up my three week class (Math Camp!) at Oregon State
            University at the end of this next week. It has been good, but kin of
            hard to be away from home during the week. Javad clearly has missed me
            and its not the same being away.

            Well, hope all is well!

            Shannon




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          • Amanda Hollingsworth
            WooHoo! 2000th message!! Here s to 10,000 more! Jacob was diagnosed based on family history and, unfortunately, a muscle biopsy. I say unfortunately because
            Message 5 of 10 , Aug 8, 2005
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              WooHoo!  2000th message!!  Here's to 10,000 more!
               
              Jacob was diagnosed based on family history and, unfortunately, a muscle biopsy.  I say unfortunately because there was really no need for it and I'm still not sure why my husband and I agreed to it.  We knew at the time he had xlmtm; I think we were hoping it wasn't.  Anyways, the biopsy was done on Wednesday and we had results that Monday.
               
              Best wishes!
               
              Love,
              Amanda

              Maurizio <badboymoz2004@...> wrote:
              I just wanted be the poster of the 2000th message, do i win a prize
              or somthing?

              But on a serious note, it is taking for ever to get a diagnosis for
              our boys, I spoke to a geneticist and he told me that Marconi's
              blood has been sent to Germany and they are doing quite an extensive
              screening of his DNA, he also said that it would be hard to predict
              just how long it would all take as if they find the mutation near
              the beginning of the "book" it would result in us getting a
              diagnosis quite soon, if however they find the mutation near the end
              of the "book" it could take many months, and that is assuming that
              they know of the specific mutation, if it is a new mutation or
              unknown mutation then we may have to resort to the muscle biopsy
              test, there is another way called linkage analysis that can be done
              if we have more then one affected boy in the family, but in order to
              do this they have to be sure that it is MTM1 and not some other
              condition, I don't really know why we need a diagnosis, as it will
              not change the way we or the Dr's care for our boys, it will however
              help us to predict how the condition will effect them in later life,
              we know that MTM1 is thought to be non progressive, some other
              conditions are progressive and can lead to long term problems, so in
              that respect we are hoping that it is MTM1, and lets face it from
              the boys symptoms as well as the fact that only boys in the family
              are born this way, this makes me about 99% sure that it is MTM1.

              We will just have to wait and see.

              Thank you all

              Moz & Rachel





              ------------------------ Yahoo! Groups Sponsor --------------------~-->
              Ever feel sad or cry for no reason at all? Depression. Narrated by Kate Hudson.
              --------------------------------------------------------------------~->


              Yahoo! Groups Links

              <*> To visit your group on the web, go to:
              http://groups.yahoo.com/group/Myotubular_Myopathy/

              <*> To unsubscribe from this group, send an email to:
              Myotubular_Myopathy-unsubscribe@yahoogroups.com

              <*> Your use of Yahoo! Groups is subject to:
              http://docs.yahoo.com/info/terms/





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            • Maurizio
              Thanks all for the helpful info, we have an appointment on 20th September, well we have 2 of them really, one with a geneticist, and another one just 2 Hrs
              Message 6 of 10 , Aug 8, 2005
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                Thanks all for the helpful info, we have an appointment on 20th
                September, well we have 2 of them really, one with a geneticist, and
                another one just 2 Hrs later with Neurologist/Paediatrician, I hope
                we will get an answer before that, there are many questions that
                will be answered with this diagnosis, like Rachel had a brother that
                died at just 2 days old, and a male cousin that died aged 2, both
                died of symptoms that could be accredited to XLMTM, also there
                mothers were carrying a lot of water during there pregnancies, not a
                lot is known about Rachel's brother as he died so early, but in the
                case of her cousin he had what we would now know to be typical
                symptoms of XLMTM, at the time however they only knew that it was
                some sort of muscle disease, as I see it, it was almost impossible
                to diagnose 26 years ago as it was more or less unknown and
                certainly not well understood, today however we have the knowledge,
                understanding and technology to do all this, which is why I get very
                annoyed at Dr's, they knew that it was something that only seemed to
                effect boys, this should have led them into looking at X link
                recessive inheritance, and from matching up the boys symptoms to a
                number of conditions that are passed on in that way, they should
                have came to the conclusion that XLMTM would explain all this and
                should have looked into it long ago, if the truth be known the Dr's
                would still be puzzled as to what could be wrong with Regan &
                Marconi, the only reason they are looking into it is because I told
                them that this is what I thought it was, NHS should change its name
                to DIY, but at least things are getting done now, if it wasn't for
                Marconi being born we would still have no idea what was wrong.

                The Dr's excuse is that the condition is so rare that its not
                something they need to know about as they will probably never
                encounter it, my answer to this is everybody knows what a conjoined
                twin is and XLMTM is far more common than that.

                Thanks again for all your help

                Moz & Rachel

                --- In Myotubular_Myopathy@yahoogroups.com, Amanda Hollingsworth
                <adhollingsworth0102@y...> wrote:
                > WooHoo! 2000th message!! Here's to 10,000 more!
                >
                > Jacob was diagnosed based on family history and, unfortunately, a
                muscle biopsy. I say unfortunately because there was really no need
                for it and I'm still not sure why my husband and I agreed to it. We
                knew at the time he had xlmtm; I think we were hoping it wasn't.
                Anyways, the biopsy was done on Wednesday and we had results that
                Monday.
                >
                > Best wishes!
                >
                > Love,
                > Amanda
                >
                > Maurizio <badboymoz2004@y...> wrote:
                > I just wanted be the poster of the 2000th message, do i win a
                prize
                > or somthing?
                >
                > But on a serious note, it is taking for ever to get a diagnosis
                for
                > our boys, I spoke to a geneticist and he told me that Marconi's
                > blood has been sent to Germany and they are doing quite an
                extensive
                > screening of his DNA, he also said that it would be hard to
                predict
                > just how long it would all take as if they find the mutation near
                > the beginning of the "book" it would result in us getting a
                > diagnosis quite soon, if however they find the mutation near the
                end
                > of the "book" it could take many months, and that is assuming that
                > they know of the specific mutation, if it is a new mutation or
                > unknown mutation then we may have to resort to the muscle biopsy
                > test, there is another way called linkage analysis that can be
                done
                > if we have more then one affected boy in the family, but in order
                to
                > do this they have to be sure that it is MTM1 and not some other
                > condition, I don't really know why we need a diagnosis, as it will
                > not change the way we or the Dr's care for our boys, it will
                however
                > help us to predict how the condition will effect them in later
                life,
                > we know that MTM1 is thought to be non progressive, some other
                > conditions are progressive and can lead to long term problems, so
                in
                > that respect we are hoping that it is MTM1, and lets face it from
                > the boys symptoms as well as the fact that only boys in the family
                > are born this way, this makes me about 99% sure that it is MTM1.
                >
                > We will just have to wait and see.
                >
                > Thank you all
                >
                > Moz & Rachel
                >
                >
                >
                >
                >
                >
                >
                > Yahoo! Groups Links
                >
                >
                >
                >
                >
                >
                >
                >
                >
                > ---------------------------------
                > Start your day with Yahoo! - make it your home page
              • Anne McAuliffe
                Moz and Rachel If these people have had that little to do with MTM my thoughts are that you should insist on being referred to the many neuro muscular experts
                Message 7 of 10 , Aug 8, 2005
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                  Moz and Rachel
                  If these people have had that little to do with MTM my thoughts are that you
                  should insist on being referred to the many neuro muscular experts in the UK
                  who have lots of first hand experience of XMTM. I know there's a team
                  somewhere in the North and the Hammersmith (London) neuromuscular team are
                  some of the best in the world. We had Tom's diagnosis in a flash despite no
                  previous family history because the consultant we saw took one look at Tom
                  (a 6 day old baby) and narrowed it down to very few conditions just on sight
                  based on his vast experience (the neurologists at our local hospital just
                  didn't have a clue and were happy to admit to that). He then did a few more
                  quick tests on the spot, immediately narrowed it down to xMTM plus one other
                  condition, did the muscle biopsy , looked under the microscope and
                  immediately diagnosed xMTM. The blood tests were done as a matter of
                  formality and I can't even remember how long they took to come back (it was
                  certainly months) but it didn't matter because everyone was dead certain
                  based on the biopsy. My bloods were done whenever I felt like it and they
                  came back very quickly (1 month maybe).

                  The fantastic thing about a rare condition in the UK is that you can just
                  INSIST on seeing the experts no matter where they are. People may try to
                  'keep the case' locally but they just can't do that. Our local hospital's
                  paediatric respiratory consultant really wanted to look after Tom - I got
                  the feeling she wanted an MTM on her CV, but we knew the absolute best guy
                  in the country for the respiratory care of neuromuscular conditions was
                  based at the Brompton and after one request to be transferred there for just
                  that aspect of his care they did as we asked. We are still seen by our
                  local hospital and have a local paediatric consultant for all Tom's regular
                  care and acute episodes. The NHS is one of the best health systems in the
                  world and there is absolutely no reason why your boys shouldn’t be seen by
                  the right experts.

                  Good luck
                  Love
                  Anne and Tom

                  -----Original Message-----
                  From: Myotubular_Myopathy@yahoogroups.com
                  [mailto:Myotubular_Myopathy@yahoogroups.com] On Behalf Of Maurizio
                  Sent: 08 August 2005 19:27
                  To: Myotubular_Myopathy@yahoogroups.com
                  Subject: [Myotubular_Myopathy] Re: 2000th post

                  Thanks all for the helpful info, we have an appointment on 20th
                  September, well we have 2 of them really, one with a geneticist, and
                  another one just 2 Hrs later with Neurologist/Paediatrician, I hope
                  we will get an answer before that, there are many questions that
                  will be answered with this diagnosis, like Rachel had a brother that
                  died at just 2 days old, and a male cousin that died aged 2, both
                  died of symptoms that could be accredited to XLMTM, also there
                  mothers were carrying a lot of water during there pregnancies, not a
                  lot is known about Rachel's brother as he died so early, but in the
                  case of her cousin he had what we would now know to be typical
                  symptoms of XLMTM, at the time however they only knew that it was
                  some sort of muscle disease, as I see it, it was almost impossible
                  to diagnose 26 years ago as it was more or less unknown and
                  certainly not well understood, today however we have the knowledge,
                  understanding and technology to do all this, which is why I get very
                  annoyed at Dr's, they knew that it was something that only seemed to
                  effect boys, this should have led them into looking at X link
                  recessive inheritance, and from matching up the boys symptoms to a
                  number of conditions that are passed on in that way, they should
                  have came to the conclusion that XLMTM would explain all this and
                  should have looked into it long ago, if the truth be known the Dr's
                  would still be puzzled as to what could be wrong with Regan &
                  Marconi, the only reason they are looking into it is because I told
                  them that this is what I thought it was, NHS should change its name
                  to DIY, but at least things are getting done now, if it wasn't for
                  Marconi being born we would still have no idea what was wrong.

                  The Dr's excuse is that the condition is so rare that its not
                  something they need to know about as they will probably never
                  encounter it, my answer to this is everybody knows what a conjoined
                  twin is and XLMTM is far more common than that.

                  Thanks again for all your help

                  Moz & Rachel

                  --- In Myotubular_Myopathy@yahoogroups.com, Amanda Hollingsworth
                  <adhollingsworth0102@y...> wrote:
                  > WooHoo! 2000th message!! Here's to 10,000 more!
                  >
                  > Jacob was diagnosed based on family history and, unfortunately, a
                  muscle biopsy. I say unfortunately because there was really no need
                  for it and I'm still not sure why my husband and I agreed to it. We
                  knew at the time he had xlmtm; I think we were hoping it wasn't.
                  Anyways, the biopsy was done on Wednesday and we had results that
                  Monday.
                  >
                  > Best wishes!
                  >
                  > Love,
                  > Amanda
                  >
                  > Maurizio <badboymoz2004@y...> wrote:
                  > I just wanted be the poster of the 2000th message, do i win a
                  prize
                  > or somthing?
                  >
                  > But on a serious note, it is taking for ever to get a diagnosis
                  for
                  > our boys, I spoke to a geneticist and he told me that Marconi's
                  > blood has been sent to Germany and they are doing quite an
                  extensive
                  > screening of his DNA, he also said that it would be hard to
                  predict
                  > just how long it would all take as if they find the mutation near
                  > the beginning of the "book" it would result in us getting a
                  > diagnosis quite soon, if however they find the mutation near the
                  end
                  > of the "book" it could take many months, and that is assuming that
                  > they know of the specific mutation, if it is a new mutation or
                  > unknown mutation then we may have to resort to the muscle biopsy
                  > test, there is another way called linkage analysis that can be
                  done
                  > if we have more then one affected boy in the family, but in order
                  to
                  > do this they have to be sure that it is MTM1 and not some other
                  > condition, I don't really know why we need a diagnosis, as it will
                  > not change the way we or the Dr's care for our boys, it will
                  however
                  > help us to predict how the condition will effect them in later
                  life,
                  > we know that MTM1 is thought to be non progressive, some other
                  > conditions are progressive and can lead to long term problems, so
                  in
                  > that respect we are hoping that it is MTM1, and lets face it from
                  > the boys symptoms as well as the fact that only boys in the family
                  > are born this way, this makes me about 99% sure that it is MTM1.
                  >
                  > We will just have to wait and see.
                  >
                  > Thank you all
                  >
                  > Moz & Rachel
                  >
                  >
                  >
                  >
                  >
                  >
                  >
                  > Yahoo! Groups Links
                  >
                  >
                  >
                  >
                  >
                  >
                  >
                  >
                  >
                  > ---------------------------------
                  > Start your day with Yahoo! - make it your home page






                  Yahoo! Groups Links
                • kristin cypher
                  Hello! I m sorry to be replying to this so late....it was a super-busy weekend! =) I would like to say up-front that I agree with everything everyone else has
                  Message 8 of 10 , Aug 8, 2005
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                    Hello!

                    I'm sorry to be replying to this so late....it was a super-busy weekend!  =)

                    I would like to say up-front that I agree with everything everyone else has said in regard to insisting that you see the best people for Regan and Marconi.  Although we have sometimes had to take the initiative in locating the best care for Sebi, I really feel that this has helped him no end - especially when he was so little and more vulnerable.

                    In regard to the diagnosis, I am really appalled at the way your doctors have gone about it, and I think it must be because they have no experience with MTM - or perhaps even most muscle diseases!!  Sebi was diagnosed through a muscle biopsy when he was 2 1/2 weeks old.  As I recall, we had the results back within 3 days (and this was only because it was the weekend, and they wanted to send the biopsy to a specialist, just to be sure).  After Sebi came home from the hospital, we had his blood drawn and sent to the University of Chicago to have it genetically mapped for MTM.  This took longer - 3 1/2 weeks - but it told us exactly what part of Sebi's DNA was affected by the MTM, and if they had seen this particular mutation on the MTM gene before (they hadn't).  They were also able to tell us that the protein substitution that caused Sebi's MTM was not as 'drastic' as most other MTM mutations, which gave us hope that he would be able to get very strong.  The way it was explained is that the protein that was substituted was very similar in size and type to what it normally is, and therefore, Sebi's symptoms would therefore be less severe.  At the time, we had already guessed this due to my brother's mild MTM, and Sebi's rapid improvement.  However, the geneticist stressed that although Sebi's mutation was the same as my brother's (they checked my brother's blood, too - and my sister's, to see if she was a carrier), he may not follow the same course as my brother (who you would never know has MTM).  This has proven true for us, as Sebi is generally weaker than my brother, while still having a very mild manifestation. 

                    I'm kind of rambling (sorry), but I think that the best course of action would be for you to insist on (at least) the bloodwork needed to map the MTM gene mutation.  Given your family history, I can't imagine that it would be anything other than MTM, so I don't think it's worth it to have the muscle biopsy done.  The only thing the biopsy will show are the cells with the central nucleus (the indicator of MTM), and it is MUCH more invasive than the bloodwork.  But, this is just my perspective, and the bloodwork in the US is very expensive if you don't already have a diagnosis, so you may have to have both the biopsy and then the bloodwork.  But, please get both, because w/o the bloodwork, no other members of your family can be tested.  We were also told that by mapping the mutation, we could have any future babies tested in utero for the disease, and know before they were born if they carry/manifest it.

                    I hope this is helpful, it's kind of late and I've been all over the place.  I'm so sorry that your family has been struggling with the diagnosis.

                    Warmly,

                    Kristin


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                  • Maurizio
                    Thanks again everybody, its good to get another prospective on these issues, one other thing I would like to mention is that when Rachel was pregnant with her
                    Message 9 of 10 , Aug 9, 2005
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                      Thanks again everybody, its good to get another prospective on these
                      issues, one other thing I would like to mention is that when Rachel
                      was pregnant with her first son (who was born healthy), the Dr's
                      referred her to a geneticist on the back of what had happened to her
                      brother and cousin, to see if they could find anything wrong, they
                      took blood from her mother who was showing signs of some
                      neuromuscular disorder, this was done back in 1997 and they tested
                      for myotonic dystrophy, the letter they sent back said that they
                      were unable to find the problem, and the cause of BOYS being born
                      with these problems is unknown and required further investigation,
                      nothing was done until 5 years later when Regan was born, they then
                      looked at things like SMA and myotonic dystrophy AGAIN, now although
                      the symptoms of congenital myotonic dystrophy are almost identical
                      to XLMTM there are some differences, firstly congenital myotnic
                      dystrophy is passed on in an autosomnal dominant way and effects
                      both sexes equally it is also progressive and there will always be
                      some form of muscle weakness in the mother, now what really puzzles
                      me is how a geneticist could overlook X linked inheritance in a
                      family where the condition is know to be passed from mother to son,
                      and exclusively effects boys? On 20th September we will be seeing a
                      colleague of the geneticist who looked into it back in 1997, this
                      new geneticist is very eager to meet the boys as this condition is
                      quite rare and as a geneticist he had read a great deal on the
                      condition but has never seen it first hand, I spoke to him over the
                      phone and he sounded very exited and enthusiastic about meeting
                      them, which I think is great because if ever he comes across a boy
                      with the same symptoms being investigated for some other condition,
                      he may just remember our boys and suggest they look into XLMTM
                      especially if there is also a history of boys being affected in the
                      family.

                      Sorry to babble on so much, I've just got an itchy writing finger.

                      Thanks again, I think that the stuff written in these 2000+ posts
                      are like gold dust, the Dr's could learn a great deal from reading
                      them.

                      Moz & Rachel
                    • Toni Abram
                      Message 10 of 10 , Aug 9, 2005
                      • 0 Attachment
                         
                        <<< On 20th September we will be seeing a colleague of the geneticist who looked into it back in 1997, this new geneticist is very eager to meet the boys as this condition is quite rare and as a geneticist he had read a great deal on the condition but has never seen it first hand, I spoke to him over the phone and he sounded very exited and enthusiastic about meeting them, which I think is great because if ever he comes across a boy with the same symptoms being investigated for some other condition, he may just remember our boys and suggest they look into XLMTM especially if there is also a history of boys being affected in the
                        family. >>>
                         
                        This is great news, there are people out there who care sometimes it just takes a while to find them.  In a similar vein I thought I would share the following with you which I received recently, which was addressed to myself and Zak Hughes.
                         
                         
                        <<< I just wanted to take a moment to say thanks for your lovely story.  I'm a genetics resident  in North Carolina and am busy studying for my exams, I usually try to read somethig about the conditions I study and like to put a human side to it.  I came across your story and found it very inspiring.  I wanted to wish you all the very best and am sure you will do well.  thanks >>>
                         
                        Hopefully one day this genetics resident will be pass their exams and carry this idealisim with them into their work.
                         
                         
                        Toni
                        ----- Original Message -----
                        From: Maurizio
                        Sent: Tuesday, August 09, 2005 3:01 PM
                        Subject: [Myotubular_Myopathy] Re: 2000th post

                        Thanks again everybody, its good to get another prospective on these
                        issues, one other thing I would like to mention is that when Rachel
                        was pregnant with her first son (who was born healthy), the Dr's
                        referred her to a geneticist on the back of what had happened to her
                        brother and cousin, to see if they could find anything wrong, they
                        took blood from her mother who was showing signs of some
                        neuromuscular disorder, this was done back in 1997 and they tested
                        for myotonic dystrophy, the letter they sent back said that they
                        were unable to find the problem, and the cause of BOYS being born
                        with these problems is unknown and required further investigation,
                        nothing was done until 5 years later when Regan was born, they then
                        looked at things like SMA and myotonic dystrophy AGAIN, now although
                        the symptoms of congenital myotonic dystrophy are almost identical
                        to XLMTM there are some differences, firstly congenital myotnic
                        dystrophy is passed on in an autosomnal dominant way and effects
                        both sexes equally it is also progressive and there will always be
                        some form of muscle weakness in the mother, now what really puzzles
                        me is how a geneticist could overlook X linked inheritance in a
                        family where the condition is know to be passed from mother to son,
                        and exclusively effects boys? On 20th September we will be seeing a
                        colleague of the geneticist who looked into it back in 1997, this
                        new geneticist is very eager to meet the boys as this condition is
                        quite rare and as a geneticist he had read a great deal on the
                        condition but has never seen it first hand, I spoke to him over the
                        phone and he sounded very exited and enthusiastic about meeting
                        them, which I think is great because if ever he comes across a boy
                        with the same symptoms being investigated for some other condition,
                        he may just remember our boys and suggest they look into XLMTM
                        especially if there is also a history of boys being affected in the
                        family.

                        Sorry to babble on so much, I've just got an itchy writing finger.

                        Thanks again, I think that the stuff written in these 2000+ posts
                        are like gold dust, the Dr's could learn a great deal from reading
                        them.

                        Moz & Rachel             



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