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Waiting, Worrying, Wishing

05/06/2015

Belle

Someone is finally big enough to wear sunglasses!

Someone is finally big enough to wear sunglasses!

I feel like I have written this post so many times before, and I guess basically have but under different circumstances. Results from autoimmune workups. Results from infertility workups. Results from two-week wait blood draws. Same emotions, different set of circumstances.

The real difference this time is that we are talking about my child and the anguish is far worse. I’ve already reached the end of Google searches (and I am only one week into the two months we have to wait on results). I am a mess on the inside and having a hard time moving through the daily motions.

Sabine saw another specialist last week and some genetic tests were ordered. We had to sign a stack of paperwork for these tests and all three give blood. We have entered the realm of genetic syndromes where there are no treatments. There are no cures.

Part of me, the obsessive compulsive who likes to put everything into boxes and categorize life, desperately wants a label. I want to be able to tell the naysayers that THIS is why Sabine is the way she is and prove that it is in no way my fault.

The other part, though, is terrified of what this label could confirm. The syndromes we are testing her for are in the arena of “rare diseases” with very few people suffering from them. There are huge phenotypes to these syndromes meaning one child might have severe learning disabilities and physical limitations while the other have extremely mild expression. At the moment, if Sabine tests positive she will luckily be in the mild phenotype, but we still don’t know what her future holds. How will she do in school? What other medical complications will accompany this syndrome as she ages? Will she grow up and be able to have children of her own? These are extremes, yes, but they still keep me up at night.

Adding another complex layer is my fear that these tests will come up empty-handed. One of the syndrome tests only has a 60-70% accuracy rate, meaning even if the test is negative, she could still have it. So what then? Will she be labeled or not? How will we track her? Children with this syndrome have a much higher incidence of kidney cancer. How will we watch for this? Will we watch for this if she is not labeled?

Then there is my personal insecurity. How would I handle a diagnosis? Of course I will love her dearly and forever, and of course I will do everything in my power for her, but that does not mean it will be easy. Or that the journey might not be lonely. Or that the constant judgement people pass on parents will not be that much worse. Am I strong enough?

And finally, there is still the best case scenario that NOTHING is wrong with Sabine and that all this worrying will do nothing more than give me more wrinkles. There is the chance that she is just a small person, growing on her own wonky curve and sporting a few random physical markers and delays. My husband is doing an excellent job believing this is the case. He reminds me daily of the progress she is making (we have so many single words now, y’all!). He spent 10 minutes researching the potential syndromes we are testing for, determined she does not fit any of them and now sleeps soundly at night and does not worry. What I would not give to be just like that. But I’m not.

One week down. Six to seven weeks to go….

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19 Comments

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  1. May 6, 2015

    Do you mind if I ask which syndromes they are testing for?
    Regardless of the outcome, it is NOT your fault. I know my saying this won’t change how you feel, but I wanted to say it anyway. You are doing a fantastic job.

  2. jak #
    May 6, 2015

    i’m am hoping the best for you and sabine. regardless of the outcome, she is a beautiful and bright child. her social skill and intensity are amazing. other than growth, her body seems to be functioning pretty normally and she is not hugely off track for things. she’s within “historical control range” as we say in toxicology. whatever it is, if it is anything, is a mild phenotype, as you said. i hope they are checking for turner’s syndrome (i’m sure they are). this can appear as small stature with very little other phenotype, and can be helped with growth hormone treatments. best wishes momma. you are doing everything right and i hope you know that. no one should tell you otherwise.

    • May 6, 2015

      Jak I have been waiting for your comment! She was screened for Turner’s via a general three cell karyotype but I requested an additional screen to rule out mosaic Turner’s. The doctor said he would be shocked if it was positive, but that he had been shocked before. 🙂

      • jak #
        May 7, 2015

        good for you for requesting more info. there isn’t always dose-response between degree of turner (xo vs mosaic) and phenotype, so very wise of you to ask for mosaic screen!! unfortunately, i know a lot about turner’s from a lost pregnancy this past year, but i still have my little nearly 2 yr old to squeeze so keeping things grateful:)

  3. May 6, 2015

    What is it with men and their ability to NOT worry? I am always so thankful that Brian is the balance in our marriage when it comes to worrying, but I also find it infuriating. I have actually asked, “so you just not care as much as I do?” Of course that’s not the case, but sometimes it feels like it is.

    I am sending you an immense amount of hugs and love. This is so hard, I’m sure. I hate watching people go through it but let me tell you, I’ve stood on the periphery many times in situations like this, and the answer ALWAYS is YES – you ARE strong enough to handle this. You are Sabine’s mama for a reason, and don’t you forget it! She sees and feels your strength, even when you don’t!

    XOXO

  4. Becky #
    May 6, 2015

    I’m so sorry that you have to wait SO long for the results. I know for me the waiting was the one of the worst parts of infertility and I can only imagine how much worse this must be. Hang in there. Whatever the results, this is not your fault and Sabine is lucky to have such an awesome Mama on her side.

  5. May 6, 2015

    Oh I hope the wait goes quickly, and pray that Sabine is just on her own growth curve! Xx

  6. May 6, 2015

    I just wanna give you a big fat hug. And precious Sabine, too. Even though we’re not really huggers and it would probably be really awkward. 🙂

    I’ve been thinking about you guys all week, and though I really can’t fully imagine what you’re going through, I am here for you. Please “use” me if you need a shoulder to cry on, old friend!

  7. May 6, 2015

    Good luck! Having a rare diagnosis, I can say it is tough. You know what is wrong, but they can’t give many answers because there aren’t enough cases. Sabine does seem to be doing quite well if she does have a genetic issue, so there is always that. If you do get a rare disease diagnosis, try to focus on the positive. There are a lot of people in our support group that focus on only the negative and they are miserable, meanwhile, their kid is much better off than others. They can’t see that others would give anything for their kid to be able to do half of what theirs is capable of. So please if you get a diagnosis, try not to let it define you or Sabine.

  8. May 6, 2015

    Oh, that is such a long (and, I imagine, excruciating) wait. Hang in there, mama.

  9. May 6, 2015

    Mama, I know nothing about what you said regd these medical tests, but I feel your anxiety and pain. I can only say till the dr says something, try not to imagine it. I know its hard, but right now till the Dr says something, just stay calm( i know its easier said than done) but babies this tender are good at picking stress up from parents and Sabine is very smart, she will feel it. Huge hugs and I am hoping you just get the wrinkles for worrying. Nothing more, may everything be good.

  10. May 6, 2015

    That is a long wait! I’m so sorry you’re having to go through all of this. Even if it turns out that Sabine is perfectly fine, it’s still an excruciating set of emotions you have to process and work through! But there’s one thing I do know…you ARE strong enough. For any and all of it, come what may. You’ve proven that time and time again. Hang in there. xo

  11. May 6, 2015

    Awful and so stressful. Sending you strength!

  12. May 7, 2015

    This sounds so tough. Sending much love.

  13. Jos #
    May 7, 2015

    Ugh, this new wait has to be so frustrating. Like you said, it’s so much worse when you’re worrying about your kid. 😦 Praying for peace and good results.

  14. May 7, 2015

    I’m sorry you are dealing with this. I hope the wait might go by a little faster. Is there any chance it might not be the full 2 months? And i totally agree that men just have some crazy ability to block out worry. Must be nice!! It is hard to get an idea as to exactly how small Sabine is in pictures. She looks very healthy and happy.

  15. May 7, 2015

    I completely understand those fears, the ones that keep you up at night, the ones you can’t quiet in your own head. Before my daughter was finally diagnosed with 5p- syndrome when she was two years old, I worried constantly that she had something degenerative, which would lead to her losing skills she’d already achieved. That’s one of the reasons I was relieved when we finally did receive her diagnosis. I also liked having a label, even though now that she’s eight years old, I don’t feel like 5p- syndrome labels her at all. But having that diagnosis opened doors for therapies and services through school that I’m not sure we’ve have received without the label. It’s such a double-edged sword.

    One thing that comforted me even after we received O’s diagnosis was that it didn’t change the child she was, the little girl we loved with all our hearts, the baby I’d carried and birthed and brought home from the hospital. Sure, maybe our dreams for her changes a little, but even those didn’t change that much.

    Sabine is a beautiful child with so much potential. She will always be your little Bean, no matter what diagnosis comes back. You’re an amazing mother doing everything you can to find answers for her and for yourself. It’s all you can do.

    In the words of the amazing pediatrician who finally diagnosed my daughter, “Love her, let her show you what she can do. Don’t put limits on her until she’s proven that those limits belong there. And even then? Encourage her to push past those limits.”

    With you by her side, Sabine can and will be just fine.

    Hoping answers come soon.

  16. May 7, 2015

    There are so many things I want to tell you but it’s either been said already or you know it in your heart so I’m just going to say this : your the mother of a beautiful strong little girl and you are stronger than you will ever realize. No matter what comes back from the tests, your going to manage it with the same grace and strength you have handled every sucky curve ball life has thrown at you. Sabine has taken some extra time to get certain things right but in other areas she seems (to me anyway) to be very ahead for her age. I know she’s miles ahead of Griffin in more than one thing and they are only a few weeks apart. We are sending lots of love and good thoughts your way that you get results quickly so you can start your planning but until then your fabulous,she’s fabulous and your doing everything 1 billion % right.

  17. Amy #
    May 7, 2015

    I am so sorry. I have said it before & I’ll say it again- go eat some cake!!! Seriously, every time you start to worry or stress do something nice for yourself. That’s a long wait, don’t beat yourself up. What would you say/how would you treat a friend going through this? I suspect you would comfort them & do something nice for them. Be a good friend to yourself. You deserve it. Does it help to tell you the multiple problems our daughter was diagnosed with? That I know the stress of waiting, the anxiety of those appointments? Maybe it doesn’t help at all, but I want you to know that you are not being singled out because you suck or aren’t good enough. Shit just happens sometimes. I’m sorry.

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