Thursday, October 27, 2011

Amnio results, and another appointment with the perinatologist

Yesterday I had a 45 minute consultation with my perinatologist; we discussed a variety of topics and went over the test results.


I’m thrilled to announce…

amnio results on both babies: normal

22q deletion (ordered on Baby A): normal

infectious disease blood work (rubella, toxoplasmosis, etc): negative

test for the 100 most common mutations of Cystic Fibrosis: negative


The majority of my questions can only be answered by the pediatric cardiologist (appointment next week), but it was helpful to talk to my doctor. I’ll type up a full recap at some point.


Thank you so much for the lovely comments and support. It really does help! Anonymous, watch your mailbox :)

13 comments:

  1. So glad to hear the tests came back normal/negative. I hope you get all your questions answered next week with the cardio dr. Will keep praying for your babies!

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  2. I'm glad that these latest test results have come back in your favor. I wanted to reply to your previous post but wanted to wait until you disclosed the actual diagnosis. What I will say (since I don't know the diagnosis) is that my step-son was born with a major heart defect and somehow it was missed at his 20 week u/s. He's had 3 or 4 open heart surgeries (the last when he was 4) and a couple of more minor procedures to help correct the problem. He is a thriving and active 10 year old. His cardiologist calls him the poster child for his condition. He does get winded more easily than other kids and we are quick to notice (over react?) when he's breathing heavy or seems to be extra fatigued, but he's fine otherwise. He takes a maintenance drug but other than his scar(s) most people would never guess that he only has 3/4 of a heart. It's amazing what miracles the medical community can perform (we IF'ers know that) so I just wanted to offer you some support and encouragement. I know you must be pretty scared and I don't blame you a bit. I'm glad the condition was noticed now so that you can research and plan and prepare yourself as best you can before your babies arrive.

    Always keeping you in my thoughts. Hang in there, you are doing great.

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  3. Smiling for you and your babies - praying for continued strength as you meet the next challenges. Don't forget to take care of you so those babies can get as strong as possible!

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  4. Been following along and am so sorry to hear about all the stress and struggles from your latest appointment. I'm happy to hear these results and will continue to keep you all in my thoughts.

    Jill at The Perlman Update

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  5. So glad the results are good and praying for your babes!

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  6. Thinking of you and smiling about the good results.

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  7. Glad to hear that you got some good news! I hope that things go as well as possible in the weeks to come.

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  8. That's great. Good luck with the cardiologist next week.

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  9. So glad to hear that the tests came back normal :)

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  10. So so happy!! Brilliant news, really made my day!

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  11. Really great news! So glad for you guys. Will be thinking of you next week as you visit the cardiologist.

    Mo

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  12. Great news! You and those babies continue to be in my thoughts and prayers.

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  13. I've been turned on to your blog by a fellow "heart mom." I'm glad to hear that your little one is healthy - other than the pesky heart. My daughter, Zoe, was born with HLHS in May of 2010. She's doing amazingly well - you'd never know she's living with half a heart. If you need anything (have questions, want to connect with fellow 'heart moms', etc.), please feel free to email info@sisters-by-heart.org. There is a huge congenital heart defect community that has become family to us in the last 24 months since Zoe's diagnosis. Take care and stay positive - there is HOPE!

    Stacey,
    www.thelihns.blogspot.com
    www.sisters-by-heart.org

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