Unexpected Diagnosis

The main reason I’ve been so quiet on my blog is that last month, we did some testing on the baby bird and it showed he had a higher risk of having down syndrome.

Since baby boy is very active, we’ve had to go back a few times to complete the ultrasound to see if there were indicators of it. It’s been so stressful and because of not knowing, I haven’t really been writing since my head has been in such a scary place.

We decided to get the MaterniT21 test and because the scans we’ve had looked like there weren’t any problems, I felt very confident that I was going to get a call with the results being negative.

You always think everything will turn out alright with your baby and can’t really imagine the thought of things going wrong. It’s not like you’ll love your child any less if they do have issues and special needs. There’s just so much fear of the unknown.

I got the call morning and yes, despite his ultrasound scan saying otherwise, he has tested positive for down syndrome.

I don’t know how to even being expressing all the emotions and feeling I’ve been going through these past several hours. Right now, I’m terrified of what the future holds for my precious baby boy. There are medial issues that go along with down syndrome that really frighten me. Heart problems, vision issues, etc.

Mostly, I’m angry with myself because of some of the thoughts I’ve been having. This baby is without a doubt loved but I still can’t help but think why? Why me? Why him? Why our family?

As you may know, the little hummingbird has had some health issues with low blood sugar since she was born and has been hospitalized for that over the years. We still don’t have a diagnoses and the stress of these issues has been overwhelming at times.

I don’t know if I’m strong enough to handle the special needs issues that we will be facing soon. I know when it comes down to it, I will be but right now I’m numb, angry, heartbroken, and afraid.

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34 Responses to Unexpected Diagnosis

  1. Christine February 18, 2014 at 15:31 #

    I’m sorry. And you are strong enough.

  2. Notmyyearoff February 18, 2014 at 15:46 #

    That’s massive, I hope everything works out no matter what happens. The little boy will be immensely loved by you all. I can’t imagine all the feelings you must be going through right now. Thinking of you xx
    Notmyyearoff recently posted..Dearest Little Z – 3 years and 2 monthsMy Profile

  3. Eryn February 18, 2014 at 15:51 #

    Your beautiful boy is going to have an amazing, loving, family is why. Is it an easy task, no. Raising any child healthy or not is not always easy. But we do it with our whole heart, body, and soul.

  4. Emily February 18, 2014 at 16:10 #

    I know nothing I can say will make it any easier. I do hope, though, that you are surfing around the internet- not to find the things that can go wrong, but to find the people who have been where you are and who were strong enough…just like you will be. Go look at their beautiful pictures, read stories about children full of joy, and let their strength be yours until you are ready to be the strong one yourself.

  5. Susan February 18, 2014 at 16:13 #

    I understand why you are feeling upset and scared. I have been where you are. Here is what I promise you. Most of what you are scared about is not going to happen. You are scared of DS because our culture is scared. I don’t know if you can believe this now, but it’s really not that big of a deal. Again, I don’t know if you can believe it. I mean, it’s not like a peanut allergy. (I have seriously- seriously!- been thankful that my four year old has DS and not a peanut allergy.) Don’t fall for all the hype. Things are so different now. My daughter does every single thing her older brother does, some of it took her 8-9 months more to learn. Some of it she learned before he did. Keep your expectations high. Start early intervention as soon as you can. Your baby is going to be like you, because you are its mother.

  6. Abby February 18, 2014 at 16:14 #

    All I can wish for you is peace and strength. Love to you and your family.

  7. Rose Marie B February 18, 2014 at 16:19 #

    Your feelings and fears are yours and that makes them valid. Be gentle with yourself. I hope you know you have a whole online community of support behind you and your family.

    Much love,
    Rose
    Rose Marie B recently posted..My God Moment in DallasMy Profile

  8. Charlie February 18, 2014 at 16:41 #

    Thinking of you as you deal with this unexpected news. Hoping that with time and research you can begin again to look forward to your future, even though it may be on a slightly different path.

  9. Courtney February 18, 2014 at 17:47 #

    Oh, sweetheart. I can’t imagine what you are going through, but I have always firmly believed that babies get the moms they need, and I have no doubt that no matter what you face down the road you are going to be an amazing mommy to that precious boy. He will be lucky to have you, and you will be lucky to have him.

    Xoxo.

  10. Michelle Mossey February 18, 2014 at 18:22 #

    I’m so sorry to hear it, Elle. I’m sure he will be an amazing little boy regardless and you will be a great mom. Thinking of you.
    Michelle Mossey recently posted..A Conversation With FebruaryMy Profile

  11. LeeAnne Curtis February 18, 2014 at 19:08 #

    Oh Elle – I am so sorry for this news. BUT – like another family I know who decided to wait until the child was born to find out – I can say in all honesty – God hand picks special parents/families for special children. You have so much love in your life, with the hubs, hummingbird and your circle of family and friends that will support you. I just posted an article on FB that I found on MSNBC right after I read your post. Please, please read it. That next little model could be your baby hummingbird, and as someone who has her own line of children’s clothes – YES – I would definitely use him. You are getting ready to go on a great adventure, maybe not the one you would have chosen, but a great adventure, none the less, and I know you can handle it! Prayers to you sweetie, hugs to hubs and hummingbird and know that your child growing in you is very special, just as you were special to your Mom. Deeps breaths, chant, and relax. You’ve got this!!!
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  12. LeeAnne Curtis February 18, 2014 at 19:15 #

    Elle – here is the link to the story –

    http://latinzine.msn.com/lifestyle/valentina-guerrero-a-special-little-girl-with-a-big-mission#scpshrjwfbs

    Also – just like Susan said – my friends in Eureka did early intervention, I believe when he was 3 – 4 months old. So – early intervention is definitely a plus – their little boy is now 15 years old, in regular school and doing great. He has a happy attitude and while it may take him longer to learn something, he still learns it with a smile on his face.

  13. Jennifer @ Also Known As...the Wife February 18, 2014 at 20:42 #

    I’m sorry your son received this diagnosis. I think all your questions of “why” and your feelings of anger and sadness are legitimate and normal. No parent ever wishes for any type of diagnosis for their child so feelings of grief are completely understandable. This little boy is so lucky to have parents who will advocate for him and love him regardless of the number of chromosomes he has. I will be thinking of you and your growing family.
    Jennifer @ Also Known As…the Wife recently posted..“Sanka, You Dead?”My Profile

  14. Kate February 19, 2014 at 07:37 #

    Of course there are going to be challenges and trials and worries, but there will also be first smiles, first steps, first words, first “I love you, Mama” and so many other wonderful, beautiful, happy moments and experiences.

    When a baby (or child) is diagnosed with something like Down syndrome, I think the most important thing you can do is allow yourself to feel sad, cheated, worried, angry. . . and don’t let yourself feel guilty for feeling that way.

    To repeat what others have posted, find early intervention, build a network of good support people (probably NOT your in-laws), and just keep up all the wonderful work you have done thus far to create a happy, loving family.

  15. amelia February 19, 2014 at 10:28 #

    oh sweet girl. what a devastating shock you must be reeling from… i’m broken hearted for challenges that your family and this sweet boy will face – but hopefully you will take strength from all of those who support you, and all of those who have gone through this journey before you. it will take a while…but i hope you will see his extra chromosome as a special gift to your family and the world (but also, there will be so many days when you don’t – when it is hard and scary and totally unfair, and i would encourage and remind you that those days are ok too, and totally normal!)

    i am a pediatric physical therapist and work with children of all ages (newborn through 18) with all range of diagnoses and challenges… some of my absolute favorite little ones have an extra chromosome and they truly light up the room with their sweet dispositions and beaming smiles… if you have any specific questions related to the developmental stuff i work on with children with down syndrome, i’m happy to answer any questions you may have…

    otherwise, just know that you have the support and positive energy from a reader in texas :)
    amelia recently posted..7/52My Profile

  16. Kammy February 19, 2014 at 16:03 #

    YOU ARE STRONG!!!! You can handle this. Prayers are going out to you.

  17. Kate February 19, 2014 at 16:21 #

    Thought I havent had a positive result on this test and cant know exactly what you are going through but I have been on the side of before the test results and all the difficult questions you ask yourself and try to answer.
    Dont beat yourself up, its totally normal to be where you are at. You will make it through to the tough questions. The business of bringing children into this world is draining and tough. You are not alone
    Kate recently posted..Tried and True Chapter 2: Pizza doughMy Profile

  18. Tess @ Tips on Life and Love February 19, 2014 at 16:30 #

    I can’t even imagine how tough this must be for you. Stay strong– for both yourself, and your baby boy.
    Tess @ Tips on Life and Love recently posted..Rachael Ray’s Week in a Day Recipe: Pork RaguMy Profile

  19. Mack N. Cheese February 19, 2014 at 17:30 #

    i can imagine how scary this is, but you ARE strong enough!

    it sounds sort of dumb and empty to recommend reading material at a time like this, but i read this book called “Expecting Adam” once about a mom who had a baby with down syndrome, the whole evolution from diagnosis on, and it was an amazing book, it really affected me and my views. if/when you’re up for it.

    take care of you!
    Mack N. Cheese recently posted..sorry not sorryMy Profile

  20. Gail o February 19, 2014 at 17:59 #

    I normally don’t post comments but this is an exception, and an exceptional post. Please know that my very best friend in the whole has twin boys with downs. Yes both. There was mourning and sadness at first, that’s normal. But she jumped in with both feet and those boys are happy and active and loving and wonderful. Their biggest health issues have been with their ears. There are tons of support groups out there, early intervention, etc. god bless your family.

  21. Athena February 19, 2014 at 19:45 #

    I have a half-sister with Down’s Syndrome, and the thing that struck me about this post is that you didn’t really post what chance you were told when you tested “positive” for Down’s Syndrome, since they usually have a cut off of around 1/250 = positive. For instance, my sister was actually a “negative” for Down’s Syndrome since it was over that, and it was one of the problems that her mom faced when she was born and obviously had the extra chromosome. There was a lot of denial there for much longer than she should have. But, the fact remains that there are “positives” that aren’t really anything more than saying that there is a 1% possibility. Then, of course, after that first positive you have anywhere from 2-3 more real tests, including ultrasounds as the baby grows to see if there are any physical markers.

    I know how frightening it can be. I had gestational diabetes with my daughter, and we weren’t able to tell how long it’d been going on, or what effect it’d had on her development. And then she had an ultrasound where she showed some markers for Down’s Syndrome…but it ended up being just that one! And lo and behold, she was born mostly normal (she had 11 fingers and 11 toes, so there’s that oddness). I just want to repeat what everyone’s saying which is basically: Don’t panic. And not just don’t panic YET, but in general don’t panic. Down’s Syndrome has a spectrum of functionality and health, and just because you know it’s possible doesn’t mean anything. We can’t test for lots of other things in the womb, like autism or schizophrenia. You could spend all your time worrying about what you’d do if it happened to your child, but the reality is that you’ll always find a way to cope. It’s just how life goes. Sending good thoughts your way. Hang in there pregnant lady.

    • Elle February 20, 2014 at 00:51 #

      Hi Athena!

      Thank you so much for all your kind words. xx

      I see my ob/gyn on Friday so I’m hoping he will explain all of this much better to the husband and I but from what I know about the MaterniT21 test is, it’s supposed to be 99.1% accurate as far as a positive or negative result.

      It was more of a shock since the handful of ultrasounds I’ve had showed that baby boy looked great and didn’t have any of the DS markers.

      I will definitely update when I know more.

      Much love!

  22. My Special Kind Of Crazy February 19, 2014 at 20:03 #

    I cannot imagine the emotions you are going through right now. I am a mom to 2 and I had both in my late 30’s/early 40’s so I was nervous even up until the birth. I work on Special Ed and have had years of experience working with kids with special needs, so I know I could handle it, but it is a while different ball game when it is YOUR child.
    There is a wonderful mommy blog called Everything and Nothing From Essex about a mom with 3 kids, the oldest a daughter with Down Syndrome (i believe she is 4 or so). Her writing about her experiences raising her is beautiful and perhaps – though maybe you won’t be ready yet- you will be able to connect. http://www.deannajsmith.com/?m=1
    My Special Kind Of Crazy recently posted..Snow Day, Sick Day and “Sleeping In”My Profile

  23. Kate February 19, 2014 at 21:53 #

    Glad you shared this news, and really hope you are able to find your way through this unexpected surprise. I have not been in your shoes, but I have been the person who shares this type of news with parents. I hope for you, that you can find other parents who can relate to what you are going through – and can be support to you. Our state is not fabulous for supports for parents with children with special needs, but if you know where to look, you will find what you and your family need. When you';re ready – check out ESS services in your area, Boston Children’s Hospital provides great care, and has a tradition of really appreciate the gift of children with DS. I really like this from Emily Perl Kingsley: http://www.our-kids.org/archives/Holland.html
    and this can be a really good way to find other people in the same boat as you:
    http://www.startingpointsforme.org/content/family-family

    Wishing you strength and support as you find your way around this surprise.

  24. Judi February 20, 2014 at 08:43 #

    I’m not sure whether to share or not… I’m not a blogger, just a follower of blogs. :) I know the blogging community is vast, so it’s difficult to gauge what might be on others’ radar. I’ve followed CCE for quite a while, and this post stands out to me as something that might make it easier to feel hope for the future.

    http://www.confessionsofthechromosomallyenhanced.com/search?q=survey

    I would also encourage you to read these:

    http://www.whatdoyoudodear.com/2013/06/how-father-taught-me-to-be-mother.html
    http://www.whatdoyoudodear.com/p/expecting-baby-with-spina-bifida.html

    I know the fear and uncertainty can be overwhelming, especially when life continues as normal all around you, completely at odds with the frenzy within you. I pray that you are able to find peace and comfort..

  25. Megan February 20, 2014 at 10:28 #

    I know this is a hard diagnosis, but I wanted to offer you some hope. I have Turner’s Syndrome, which means I am female, but only have one X chromosome. There are kidney, heart, and learning issues that can come with this syndrome. Thankfully, as far as can be determined, I am 35 and do not have any of these issues. Every person with every syndrome is different. I wish you and your family the best of luck, Take every day and every complication (or ruling them out) as it comes, and you will all get through it.

  26. dawn February 20, 2014 at 15:25 #

    just want to send you love and support and compassion as you work thru this. i know that your plans for a “normal” boy may not come to fruition but know that things will work out according to another plan. a plan you cant control. but one that will bring you much joy. i just know you will come thru this time with grace and that love will save the day. be kind to yourself, feel all the feelings you need to feel (disappointment, sadness,) and then let them go. and open your heart.to the wonder and miracle of your blessed baby boy.

  27. Andi February 21, 2014 at 00:56 #

    Hugs mama! You are most definitely strong enough to love this boy. It will be okay. We had an unexpected diagnosis of our little one at 18 mos. It is tough and it is okay to grieve for what you thought was going to be. After all of my own “what if’s” and “what could I have done to prevent this” I have let go. She is my everything and I would change nothing. With her next appointment coming up soon it is comforting to know that she loves her doctors and that regardless of how hard it is for me sometimes, it is her normal and she is absolutely fine with it.

    Love and peace to you and yours.

  28. Lisa February 21, 2014 at 12:03 #

    Baby boy hummingbird will no doubtedly be loved beyond the moon. Take things one day at a time. And we’re all “here” for you.

  29. Anna B February 22, 2014 at 22:46 #

    Sending love to you. I think it is important to take time to grieve- grieve the life that you had hoped for your child and recognize that it will not be the same. Taking the time to grieve first will allow you to move forward now with a new reality (at least in my experience). And remember to let yourself feel what you need to feel. Don’t be too worried about what other people think you should feel. Just follow your heart.

    Again, sending love your way and prayers that you will be able to undertake this new reality with a full heart and embrace the good moments.

  30. kath February 23, 2014 at 11:02 #

    We don’t have a child with DS in the family. I have no idea of how you feel. I just want to say… I worked for seven years in a school for special needs children. One of our therapists gave birth to a daughter with DS. What a beautiful and amazingly intelligent little girl she is ! She was reading at age 3.. and excelling at so many things!

    Several kids with DS have been in the school or the classroom where I worked. There have been challenges with them, but many of them came from being treated differently at home. No rules, no boundaries. Don’t make that mistake. Just love your baby and teach your baby and follow your heart and common sense and do the best you can. I promise you that it will be more than good enough. Teach and treat him like any other child and I bet he will shine.. just like any other child. In fact I’m sure of it.

    I suspect that you will be surprised by how great you are at being a mom to this child, too. Every single child that is born presents challenges. ALL of them are different. So this baby? Challenges and love, just like any other baby. I wish you al well .. and lots of happiness.

  31. Nadine February 24, 2014 at 07:19 #

    Hi

    I dont know if you have ever come across her blog but i think you should go have a look, her name is Kelle and she gave birth to a gorgeous baby girl who had down syndrome and she didnt know, until baby was born and put in her arms. Please read Nella’s story

    http://www.kellehampton.com/2010/01/nella-cordelia-birth-story.html

  32. MsLGH February 24, 2014 at 11:09 #

    I don’t want to give you false hope BUT my sister’s youngest son tested positive for Down Syndrome and was actually born without any issues. No DS, no medical problems. He’s now 12 years old and not a problem in sight. Tests can be wrong but either way you’ll be able to do this!

  33. Christa February 26, 2014 at 18:32 #

    I’ve had that test and others because Bo presented with a higher than usual risk of Down syndrome but ultimately the MT21 was neg. for us. But in all my reading, I discovered that while the false negative rate is low, there is allowance for a certain number of false positives built in. It just happens and they were pretty up front about it before we got the results.

    I will say, though, that in the period of time where we were just waiting and it was awful, I read just about every memoir written by a parent of a child with Down syndrome there is and my heart was lifted as far as it could be lifted. I didn’t find epic sadness there – though there was some sadness and anger, too (which I understood, I was SO angry at Bo in utero) – but rather learning and surprises and happiness, too.

    I’m sure you’ve had about a zillion people send you this: http://www.our-kids.org/archives/Holland.html and probably have suggested you read Roadmap to Holland and Bloom and the rest but unless you think it’s just going to make you feel worse, do give it all a read. I found them difficult to read but also good to read, too.

    In my job I am often presented with the opportunity to say that the good outcome (which we sometimes call miracles) are not always the ones we hoped for, but then we learn to see the good in them and so they become good.
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