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Re: [Myotubular_Myopathy] Re: 2000th post

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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 1 of 10 , Aug 7 8:32 PM
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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 2 of 10 , Aug 8 7:44 AM
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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





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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 3 of 10 , Aug 8 11:26 AM
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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 4 of 10 , Aug 8 12:07 PM
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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 5 of 10 , Aug 8 9:47 PM
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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 6 of 10 , Aug 9 7:01 AM
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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 7 of 10 , Aug 9 11:42 AM
                • 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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