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Wedding Woes

Update on the Girl

M is having a 24-hr EEG. The hour EEG didn't catch her hand twitch and we need to be sure she's not having seizures. If she is having them we need to know what kind and how to handle them.

Our trip to PA is because the children's hospital there has a stroke center. We're getting a second opinion because it can't hurt to.

her blood work came back. She is heterozygous for the "major" clotting issue I have (I'm homozygous) and she's is heterozygous for the other clotting issue I have (I am heterozygous for that one too.)

She's sitting on her own now, though has to be placed. She's starting to be able to pivot herself in her exersaucer. She's playing with toys and is very interested in them. She is developing her sense of humor. She's doing really well with all of her therapies but still VERY resistant to her speech therapy. Still hates having things in her mouth and unfortunately Speech therapy requires the use of some tools to help strengthen her facial and oral muscles.

She has a very prominent tongue thrust and week facial muscles so we're still on purees. But we're basically pureeing whatever it is we're eating so she's getting full flavors and hopefully more interest in food.
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Re: Update on the Girl

  • i don't know what hetero/homozygous means.

    i am glad her therapies are working for her. and i hope she soon realizes that food is DELICIOUS!

  • heterozygous = 1 copy of a mutated gene   homozygous =  2 copies of a mutated gene.
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  • is it "better" to be heterozygous? meaning, does this mean a repeat stroke is less of a risk?

    im sorry if these sound like dumb questions, i am just curious how this diagnosis fits into her future.
  • not dumb questions at all.

    being heterozygous IS better. As a homozygous person, I am 10x more likely to get a blood clot/stroke/pulmonary embolism than someone who is heterozygous.

    That being said, she still has a higher risk of clotting (either stroke or clot) than a "normal" person.
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  • Wow, besides her frustration with all of the speech tools and some of the genetic information (which seems to be workable with therapy), all of this sounds so positive.

    It is amazing to think how far she's come (from the outside looking in) in the last few months. 
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  • i forget what the specialist told me, i think i am heterozygous for MTHFR or whatever that is, which i think is really common. there are probably so many people walking around living normal lives with hetero blood issues and they just don't know because there may never have been a reason to test.

    anyway. that's very good. the last thing you guys need to hear is that she is at greater risk for this happening again.
  • You've got a busy weekend ahead of you.

    Great news about sitting and pivoting and playing with toys.  It seems like she's had some major development successes in the past couple months.  I love hearing about them.
  • zzilla, see if this makes sense.

  • TT i'm glad that she's doing well. It sounds like she is making a lot of great progress. (and hooray for getting to try all of those awesome foods)

    Wished we still lived in Philly so we could try to meet up while you are in town.
  • Barbie - the only thing wrong with your chart is that this isn't a carrier situation. It's just a lessened (but still heightened) risk for an clotting event to occur. If it was something like Cystic Fibrosis then the carrier scenario would work.


    She's really doing so well and coming along so rapidly. Her therapists are thrilled. Her neurologist is thrilled. She get's frustrated and will scream or cry at times. but she's really starting to enjoy things she used to hate (like PT)
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  • In Response to <a href="http://forums.theknot.com/Sites/theknot/Pages/Main.aspx/special-topic-wedding-boards_wedding-woes_update-on-the-girl?plckFindPostKey=Cat:Special%20Topic%20Wedding%20BoardsForum:47Discussion:dae2eae9-8946-4a43-8041-a2c8621b82edPost:9f5f8b4a-e988-453a-95b3-b01498967d29">Re: Update on the Girl</a>:
    [QUOTE]Wow, besides her frustration with all of the speech tools and some of the genetic information (which seems to be workable with therapy), all of this sounds so positive. It is amazing to think how far she's come (from the outside looking in) in the last few months. 
    Posted by **O-Face**[/QUOTE]

    This.  The Divine Miss M is living up to her name.  :)
  • She's come so far. That's wonderful.  I'm sure she'll continue to make great progress with you and your H cheering her on.

    I also wasn't aware of the differences between the hetero/homozygous.
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  • that was my comment about exhibiting symptoms /traits, but not to the level where you will - it depends on how the genes are expressed.

    Disclaimer:
    ****I AM NOT A DOCTOR (I just play one on TV), AND HAVE NOT TAKEN A BIOLOGY CLASS IN SOMETHING LIKE 8 YEARS, SO THIS IS JUST A BASIC BREAKDOWN SO ZZILLA COULD BETTER UNDERSTAND HOMOZYGOUS v HETEROZYGOUS****
  • well, i already understood how traits are passed down from parent to child. i just didn't know the difference between the two words, really, and how the dx pertained to her future.

    but thanks anyway.
  • In Response to <a href="http://forums.theknot.com/Sites/theknot/Pages/Main.aspx/special-topic-wedding-boards_wedding-woes_update-on-the-girl?plckFindPostKey=Cat:Special%20Topic%20Wedding%20BoardsForum:47Discussion:dae2eae9-8946-4a43-8041-a2c8621b82edPost:be845f2a-ca1d-4398-888d-df7ba6294871">Re: Update on the Girl</a>:
    [QUOTE]Barbie - the only thing wrong with your chart is that this isn't a carrier situation. It's just a lessened (but still heightened) risk for an clotting event to occur. If it was something like Cystic Fibrosis then the carrier scenario would work.
    Posted by thatgrrrrl[/QUOTE]

    Your knowledge of genetics, not even being someone who does that for a living, makes me feel good about life.  The homozygous/heterozugous thing is only what we see; what you get at a molecular level for a heterozygous anything really is half of the usual product - it's just a matter of how much is enough to see what you see.

    I'm so frustrated for you that all of this isn't going more smoothly, but I am happy at her progress.  You're such a loving and devoted mother.
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  • I'm happy that she is kicking butt.
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  • Miss M is making fantastic progress.  I'm happy for her and for your.  I can't imagine how much time and dedication this has taken for all of you.  In case you didn't know, you are doing a FANTASTIC job

    Good luck this weekend.
  • Thanks for all of the kind words everybody! It really does mean alot to me and little miss M.
  • How's she doing thus far??!
  • VarunaTTVarunaTT member
    Knottie Warrior 10000 Comments 500 Love Its First Answer
    edited January 2014
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  • A two year old thread????
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  • Well, the divine Miss M is always in our thoughts, it would seem.

    I was really alarmed at first, though, because I thought she'd had a huge setback.  Whew @ this being two years of progress ago!
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