Thursday, February 16, 2012

an answer and a wave of numbness

One day shy of 6-weeks post-D&C, my doctor has finally called me with the results of the testing performed on the tissue/baby/products of conception.

The results are that my baby girl had Turner Syndrome (also known as Monosomy X).

From miscarriage.about.com:
Monosomy X, commonly known as Turner Syndrome, is a chromosome disorder in which a girl or woman has only one complete X chromosome. (Because a Y chromosome is needed for a person to be male, all babies with Turner Syndrome are girls.) Though girls born with Turner Syndrome usually have good odds for a normal life, the majority of babies with the condition are lost to miscarriage or stillbirth.
And some statistics from the same site:
About 1 in every 1,500 to 2,500 newborn babies has Turner Syndrome. Yet according to research, monosomy X is present in about 3% of all conceptions, but about 99% of affected babies are miscarried or stillborn. The condition is thought to be a factor in roughly 15% of all miscarriages.

I cried when listening to the voicemail from my doctor. I cried while telling Buster.

But now I just feel numb. I'm not sure I am even able to process this right now.

I should be feeling relief, I think. Relief that this was not immune-related.

And relief that this is most likely a random happening. There is a rare type of Turner Syndrome that is genetic, and involves the partial deletion of the X chromosome. It is quite rare, though, and I would need to have a karyotype done to know for sure if that is an issue with us.

My doctor would not recommend pursuing karyotyping unless we have another similar loss. And I agree with him.

For now, I'm going to assume this was random bad luck.

I suppose I am relieved to have an answer, I just don't feel relieved.

I don't really feel much of anything right now.

31 comments:

  1. It is good to have an answer because at least it answers some of the why and lingering what ifs. I wish that the answer was all it took to feel better, but it is not. I hope and pray that this was random bad luck, as you say, and that next time you get your take home baby.

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  2. This is a lot to take in, don't feel like you need to understand it all now or even be relieved by it. Give Buster a big hug and cry for the loss of your baby girl, those are the important things. I'm thinking of you, like always.

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  3. Sorry to hear this very difficult news. Thinking of you.

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  4. You don't have Turner's. I've seen photos of you and you don't have the phenotype associated with Turner's. Turner's is rare and can arise through nondisjunction, either during production of gametes or after fertilization. The point is, it's not heritable, it's a rare event and it's due to bad luck. So I'm very sorry. This news is never easy.

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    Replies
    1. Hi Cristy. I didn't mean to imply that I have Turner Syndrome. I may have misunderstood the last paragraph in the 5th section on this page: http://ghr.nlm.nih.gov/condition/turner-syndrome

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  5. I agree with Lindsey. Cry, stare, do whatever you need to do. Sometimes answers don't give you what you hoped they would. <3 Thinking of you and Buster and your baby girl.

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  6. While the fact that it was Turners is better than an immune issue, it doesn't make it a relief. There is no such thing, is there? A friend actually said something to the effect of, "what a relief you didn't lose your tube" when I had my ectopic. Yes, it is absolutely true - it is a good thing I didn't lose my tube, but not a relief.

    Having something to point at as being a positive thing doesn't make the miscarriage any more bearable. I know that finding out gender has to be such a hard thing too. I'm so sorry you lost your baby girl. I hope you have the opportunity to be a mom to a baby girl again soon. ((hugs))

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  7. Sometimes getting an answer doesn't really tell us anything, does it? It sounds like the cause of your miscarriage is common, and therefore you have a great chance of conceiving a healthy baby. But that doesn't make the miscarriage an easier to bear. It hurts no matter how you slice it.

    If your husband hasn't been checked already, make sure his sperm is checked before you TTC again. Problems of this nature are usually associated with the sperm, not your egg. If your dh has poor morphology, as mine does, miscarriages of this nature are fairly common. (unfortunately). I have had two miscarriages and a chemical pregnancy...but I have also had two pregnancies that were full term. My husband and I have been "lucky" enough to have insurance carriers that have given us the opportunity to keep doing rounds of IVF. It has basically boiled down to 'throwing spaghetti at the wall until something sticks' method for us. I hope that your just got very unlucky this time around, and that it never happens again.

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  8. I am glad you got those much needed answers - as hard as they are to hear, now you know and it may help move past this tragedy. I was told that when it comes to making a baby, it is literally a ball of cells that multiply and divide and there is soo much room for error, so chances are pretty good that it won't happen again. Thinking of you.

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  9. I agree that sometimes the answers hurt as much as the questions, especially when the answers dont tell us much in the way of predicting the future and another outcome. But I do agree with your perspective...I think your m/c was a random stroke of bad luck, and doesn't mean that another random stroke of bad luck is destined to find you. I agree with waiting on the kareotype testing as well...My RE suggested waiting for us too. Hoping this brings you some clarity and peace in the future and that you go on to have an overwhelming stroke of good luck come your way! Thinking of you and Buster!

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  10. I'm so sorry. I know that doesn't mean much of anything. I had no idea they would be telling you the gender when they did the testing. That just makes it that much harder, even if you do have an answer. All I can say is I'm praying for you, Buster, the baby you lost, and the baby there is to come.

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  11. It's hard to have answers but good to know there was nothing that could have been done to change the outcome. I'm sorry the news is so hard to take.

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  12. I'm glad you have an answer, although I realize it's hard either way. Plus finding out the gender can be hard too... I never did with mine, but I know that it would have been hard either way. I'm glad that this was likely a one time thing, but it definitely doesn't make it easier... you still lost a baby (*hugs*)

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  13. I've been a long term lurker here and I wanted to offer my condolences and a virtual hug. I'm praying for peace in your heart after such a devastating loss.

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  14. So glad you have an answer. But don't know what else to say. It doesn't make it easier, does it? Just hoping for a better future. Hoping for both of us.

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  15. I'm very sorry your poor baby had to develope this syndrome. It is a hard thing to swallow. I am glad you have an answer, sometimes having that can help you move forward. Maybe it will give you a little closure after you take some time to process it.
    Hugs dear.

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  16. I don't think this is an answer that could bring you relief. I am praying that eventually it is easier to process, that you can get pregnant again and most likely not have to endure all of this craziness and sadness again. It is like my news of the unicornuate uterus, it gave me an answer and the ability to move on knowing what is going on....but it was still devastating to hear. Thinking of you, take some time to process all of this, don't be hard on yourself for feeling the way you do...it is completely normal! ♥

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  17. I agree with the posters above - this is terrible news, but it does seem like it's as close to random bad luck as you could get. I know there will never be "closure," but I hope that this knowledge allows you to move forward in the grieving process and gives you hope for your next pregnancy.

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  18. I'm sorry hun. It's not going to be easy knowing or not knowing. It is better that you know, but definitely not easy.

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  19. I'm so sorry. I don't have anything to add that the other commenters haven't said already...just be kind to yourself while you grieve this.

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  20. Kara,

    We had karotypes done on both of us and it was just a simple bloodtest. I would get it done if I were you, that way you will know for sure. I'm so sorry about your news and I pray that things look up for you soon.

    Anna

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  21. I'm glad it wasn't immune related. It's really hard to deal with a loss that is due to random bad luck (which pretty much all of them are). We want to reason things out, know why it happened so that we can do everything in our power to prevent it from happening again, but the truth is that it's not within our control, and that's incredibly difficult (if not impossible) to accept. My heart goes out to you and Buster.

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  22. I know the result doesn't make the loss any easier, in fact, finding out the sex must have been very hard to hear. Sometimes having an answer does allow one to think about the loss more rationally. For future pregnancies, I do understand the feeling of relief that the result may offer. You remain in my thoughts.

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  23. I agree with much of what the others have said. It's good that it wasn't immune related, but I'm still so sorry and heart-broken for you. I'm crying for you. I have lots of hope for you hun. I truly feel like it was a terrible fluke (I can't really find the right words), but I hope and believe you will soon be pregnant with a healthy baby. Just sending lots of hugs and love to you. If you ever need anything, I'm here.

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  24. I know this feeling all too well. When we lost the twins there were no findings in the pathology report. The only thing she told us was they were boys. It made me numb for prob a week. I don't know if anything would have brought me real relief. I'm sorry for all this.

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  25. ...anything meaning any answer. I didn't mean you won't find relief from this at all. Just want to clarify. <3

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  26. *HUGS*
    I'm so sorry that you lost your little girl to it.
    I mean, I guess it is good to at least have an answer now, but I know it still sucks balls. :(

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  27. I'm so sorry you're going through IF and then your m/c. Nothing can really prepare a person for the emotional drain this whole process puts us through. Knowing "why" may be helpful in that at least it was one of those statistically odd things that can happen and the odds of it affecting you again are really low. Not that any of this knowledge replaces your loss. I'm truly sorry.

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  28. I know all too well what that phone call is like. We lost a little girl to Turner's syndrome at the same point in pregnancy last year too. Knowing she was a she made it even more real and I had to grieve more after finding out. I am glad you have some answers, I think that info is good to have moving forward. It is so unlikely that this will happen again, although for me it was still in the back of my mind with future pregnancies (even with karyotyping on DH and me). Much love to you and your baby girl as you work through this added dimension of emotions.

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  29. I see you on 2WW alot and found your blog through another blog. I got hooked on your story and have made it to this post. I just wanted to send my deepest sympathies. Every pregnancy- miscarriage or term- I was terrified the entire time I might be having a girl and she'd have Turner's Syndrome, as I am carrier. It's scary and you never can relax. Almost all the women on my mother's side are carriers and I have a 1st cousin with Turner's Syndrome. Both my mother and the Aunt who has the daughter with TS lost babies between 17-22wks due to 'genetic anomalies' and so for both my pregnancies I spent every day until 24 weeks just waiting for the bad news that my LOs didn't have HBs.

    I wanted to share this with you so that you know, even though you are a carrier, don't let this add to your TTC 'weight'. I now have 3 healthy children, one of which is a girl who does not have TS, and my cousin with TS just found out she will be able to have children which they thought her whole life she wouldn't.

    Keep trying and chin up! I admire you alot!

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