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News and future pregnancy concerns

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  • burcu paltura
    Dear All, As you know Ilker has passed away 4 months ago. He was my first and the only child. I ve always wanted to have two children but I couldn t do it
    Message 1 of 3 , Apr 4, 2009
      Dear All,
      As you know Ilker has passed away 4 months ago. He was my first and the only child. I've always wanted to have two children but I couldn't do it when Ilker was alive. I wanted to give all my love, care and attention to him as you all may understand why. After Ilker's passing I had serious health problems. I was told that I was pregnant but it is an abnormal one which was called "hydatiform mole" Because of that disease which turned into a cancer cell formation I had to have two operations and a chemoteraphy treatment within 2 months. Luckily there was no metastasis and my latest tests are just fine. The disease witholds me to get pregnant because the level of HCG in the blood is checked regularly to make sure it stays normal. This is because pregnancy, by raising the level of HCG, can make it hard to detect if the tumor has come back. So I just need to be patient but I also don't want to take any more risks in the future about my pregnancy. That's why I need to make sure that when I am pregnant it is a normal one and free of myotubular myopathy. I read some articles on the web about the genetics of XMTM and I want to ask you a very important question. That is: If a male child is diagnosed -both by muscle biopsy and genetic testing- as having a XMTM condition and the mother is also genetically tested and the same mutation in MTM1 gene is found; does this carrier mother has any risk of giving birth to a female who would have the same condition? I know that the disease affects males but is it "only males" or "mostly males"? I have read the file about the info on genetics which was added before to the myotubular myopathy group website. I read that again in the morning and under the title "How does CNM run in families" it says:
       
      "Carriers have a 50% (1 in 2) chance that each of their sons will have XLMTM and a 50% (1 in 2) chance that each of their daughters will be carriers"
       
      However a couple of days ago
      I read a very disturbing sentence in an article in our native language talking about some affected females seen lately and noticed that a reference was cited. "Kristiansen M, Knudsen GP, Taner SM et al. X-inactivation patterns in carriers of X-linked myotubular myopathy. Neuromuscul Disord 2003; 13: 468-471" 
      Unfortunetly I couldn't get the full-text article on the web, so if any of you have an information on the subject or know some professionals who might give info on this "X-inactivation patterns" I would be very grateful. Even if there is a very slight chance that females can also be patients not only carriers I need to know this.
      Waiting for your comments,
       
      With Love,
      Burcu and the angel Ilker
       

    • Wendy
      Hi Burcu, I ve responded privately to this, please let me know if you don t receive my email. Wendy x ... From: Myotubular_Myopathy@yahoogroups.com
      Message 2 of 3 , Apr 4, 2009

        Hi Burcu,

        I’ve responded privately to this, please let me know if you don’t receive my email.

        Wendy x

         

        -----Original Message-----
        From: Myotubular_Myopathy@yahoogroups.com [mailto:Myotubular_Myopathy@yahoogroups.com] On Behalf Of burcu paltura
        Sent:
        04 April 2009 17:24
        To: Myotubular_Myopathy@yahoogroups.com
        Subject: [Myotubular_Myopathy] News and future pregnancy concerns

         

        Dear All,

        As you know Ilker has passed away 4 months ago. He was my first and the only child. I've always wanted to have two children but I couldn't do it when Ilker was alive. I wanted to give all my love, care and attention to him as you all may understand why. After Ilker's passing I had serious health problems. I was told that I was pregnant but it is an abnormal one which was called "hydatiform mole" Because of that disease which turned into a cancer cell formation I had to have two operations and a chemoteraphy treatment within 2 months. Luckily there was no metastasis and my latest tests are just fine. The disease witholds me to get pregnant because the level of HCG in the blood is checked regularly to make sure it stays normal. This is because pregnancy, by raising the level of HCG, can make it hard to detect if the tumor has come back. So I just need to be patient but I also don't want to take any more risks in the future about my pregnancy. That's why I need to make sure that when I am pregnant it is a normal one and free of myotubular myopathy. I read some articles on the web about the genetics of XMTM and I want to ask you a very important question. That is: If a male child is diagnosed -both by muscle biopsy and genetic testing- as having a XMTM condition and the mother is also genetically tested and the same mutation in MTM1 gene is found; does this carrier mother has any risk of giving birth to a female who would have the same condition? I know that the disease affects males but is it "only males" or "mostly males"? I have read the file about the info on genetics which was added before to the myotubular myopathy group website. I read that again in the morning and under the title "How does CNM run in families" it says:

         

        "Carriers have a 50% (1 in 2) chance that each of their sons will have XLMTM and a 50% (1 in 2) chance that each of their daughters will be carriers"

         

        However a couple of days ago

        I read a very disturbing sentence in an article in our native language talking about some affected females seen lately and noticed that a reference was cited. "Kristiansen M, Knudsen GP, Taner SM et al. X-inactivation patterns in carriers of X-linked myotubular myopathy. Neuromuscul Disord 2003; 13: 468-471" 

        Unfortunetly I couldn't get the full-text article on the web, so if any of you have an information on the subject or know some professionals who might give info on this "X-inactivation patterns" I would be very grateful. Even if there is a very slight chance that females can also be patients not only carriers I need to know this.

        Waiting for your comments,

         

        With Love,

        Burcu and the angel Ilker

         

         

      • Sheallyn
        Dear Burcu, sorry to hear that you have had such a tough road to travel these past 4 months .. (big hugs) I personally don t know much more than you as far as
        Message 3 of 3 , Apr 12, 2009
          Dear Burcu, sorry to hear that you have had such a tough road to travel these past 4 months .. (big hugs)

          I personally don't know much more than you as far as female's born with xl-mtm.. wish I could be of more help to you.


          please take care!
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