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When You’re Waiting For the Test Results

Jan14

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Hi Amy,

First I want to say that I’m a big fan. The Pregnancy Week-by-week and Smackdown really helped me as a first time mom, and I’m slowly working my way through everything again with my second pregnancy! I also love your blog, and read it all the time! Now on to my question.

Our big ultrasound was about a week ago. We were told that the baby was developing fine as far as anatomy goes, and we would be having our second baby girl! However, we were also told that there was an abnormality in the baby’s bowels, and that this abnormality has a correlation to babies born with Down Syndrome. Our OB-GYN suggested I get a quad screen test done before I leave that day. He explained to me that a QS only checks for probability, and couldn’t give me a definitive answer. He explained that a low risk of Downs would be something like 1 in 9000, and a high risk would be 1 in 100. My results came back as a 1 in 6 chance that my baby has Downs.

I am shaken and concerned of course, but I can’t think of a better family/support system for ANY child to be born into, than the one I have. I see the genetic counselor later this month, and I’m also scheduled for a level two anatomy ultrasound as soon as my vacation is over. My issue is that I want to be as prepared as I can for both me and baby, but I have NO EARTHLY IDEA, where to start my research and planning. Do you have any tips on where to look? Who to talk to? Where to go from here? I feel like my mind is in a spin, and I can’t seem to concentrate on anything. I feel that if I had a place to start, I could get a hold on things, and begin to deal with the situation. Trying to deal with this on top of my already severe case of pregnancy brain (why yes, that WAS me who left the house without a shirt on two days ago!) has me reeling. Any advice you can give me would be greatly appreciated.

Thanks!
Concerned in the South

Well goodness, HUGS lady. Obviously this is not an issue I’ve dealt with personally, but frankly there was no way I was going to let this question sit in the queue, gathering cobwebs. If there is anything I’ve learned over the (holy hell) SEVEN YEARS of writing this column at AlphaMom, is that we’ve got one of the best, smartest and KINDEST audiences on the Internet. So sometimes I just have to step aside and open up the comments for other people who have been there, done that, gotten the t-shirt and the gold star of ass-kicking, to take over.

I will say this: Whenever you are faced with a diagnosis that might fall out of the range of “typical,” the stages of Dealing With It can be similar. Shock and fear and a feeling of being completely overwhelmed and somewhat stuck/immobile. There can be a lot of guilt mixed in too, as you find yourself suddenly mourning…something. The loss of your expectations; the child you assumed you’d have.

And here’s where the Welcome to Holland metaphor first comes into play. Read it if you haven’t yet come across that one.

Then there’s guilt, because perspective! There are worse things than Downs or Autism or such-and-such congenital disability! At least you HAVE your baby or child and oh God, do you think your baby/child knows what you’re thinking? Do you think they know that you can’t look at their face or your growing belly without thinking about IT, the SCARY THING, the thing that dammit, you’ll make the best of it if you have to but it’s still not what you expected or wanted.

And you know what? It’s okay. It’s okay to grieve a little. It’s healthy. Allowing yourself to feel what you feel when you feel it is the best way to un-stick yourself from the low valley and get yourself back pushing up the hill. Along the way, envision each of the next markers and milestones (the genetic counselor, the anatomy scan, the potential final confirmation, etc.) as physical checkpoints on a hill, and focus only on the next upcoming one — not the whole overwhelming journey up and over into the unknown.

Like, when I run and I’m trying to push myself past my comfort zone, I’ll look at the horizon and pick a visible spot: A tree, a corner, and tell myself that I have to make it to that point before stopping. Nine times out of 10, I can run to that point and keep on running. But if I told myself that I had to run all the way back to my house, for example, or to some unseen point far away, I’d probably fail and give myself a lot of mental abuse for giving up.

I don’t know, but I guess I’ve approached our zig-zaggy journey with Noah the same way. First speech evaluation. First sensory evaluation. Developmental pediatrician appointment. Focus on the next thing on the calendar and to-do list instead of trying to wonder what things will be like next year, or high school, or adulthood, or or or etc. That’s a one-way ticket not to Holland, but to Crazy Stressville. Because even if the diagnosis is confirmed, you WILL grow into your new role, your new expectations, and find that this really is your new normal, and it’s just as fun and lovely and full of ups and downs as anyone else’s normal. It just maybe involves more acronyms and appointments, but there’s still plenty of the wonderfully mundane and “typical” mixed in.

So for now, work with what you’ve got and take it one day at a time. You will still have time to prepare and be a wonderful mother and advocate for this child even if you take a week or two “off” to process and wait for an official diagnosis. Buy some diapers and really cute onesies, if that helps. While you may feel like your future is deeply in flux right now, the fact that your baby girl will be adorable, amazing and cherished has never changed, and never will.

It also looks like BabyCenter has a wonderfully supportive message board for parents who are going through the prenatal testing process (and for parents who are preparing to give birth to babies with DS) and this welcome message contains a plethora of helpful links. Dip in, read, get your feet wet and maybe consider joining in when/if you’re ready.

And now? Readers? Can anyone chime in with any other suggestions? Websites? Blogs? Books? Support groups? Thank you!

About the author

Amalah

http://www.amalah.com
Amalah is a pseudonym of Amy Corbett Storch. She is the author of the Advice Smackdown and Bounce Back. You can follow Amy's daily mothering adventures at Amalah. Also, it's pronounced AIM-ah-lah.

If there is a question you would like answered on the Advice Smackdown, please submit it to amyadvice@gmail.com.

Amy also documented her second pregnancy (with Ezra) in our wildly popular Weekly Pregnancy Calendar, Zero to Forty.

Amy is mother to rising first-grader Noah, preschooler Ezra, and toddler Ike.


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45 Responses to “When You’re Waiting For the Test Results”

  1. Isabel Kallman
    Isabel Jan 14 at 1:25 pm Reply Reply

    I had never read ‘Welcome to Holland.’ Wow is that beautiful. Thank you.

  2. Heidi T Jan 14 at 2:06 pm Reply Reply

    I greatly recommend Kelle Hampton’s blog – http://www.kellehampton.com/ . Her daughter Nella was born with Down’s Syndrome and she wrote an amazing post about her birth – http://www.kellehampton.com/2010/01/nella-cordelia-birth-story.html . Her blog is about her life and living with Down’s Syndrome in such a positive and supportive way.

    • Rachel Jan 15 at 4:14 pm Reply Reply

      I was going to recommend her blog, too! She has a beautiful perspective as the mother of a toddler with Down’s Syndrome.

  3. Kacie Jan 14 at 2:07 pm Reply Reply

    Big hugs and congratulations on your baby girl! I have a friend who gave birth to her third child a few weeks ago and had a very similar situation — a bowel issue discovered at the big ultrasound, markers for Down Syndrome, and the sort. There was also some problems with the placenta.

    Anyway. They were stressed and worried but were hoping for a healthy baby — Downs or not — just healthy. And that’s what they got. No further problem with the bowel (it resolved on its own!) and no Down Syndrome.

    I hope that you’ll have a healthy, uneventful remainder of your pregnancy and a healthy baby girl to snuggle in a few more months.

    And if your sweet daughter does have Down Syndrome? By the sound of your post, I am convinced you will be such a blessing to her. Still, if their odds are right, you have an 83% chance she DOESN’T have Down Syndrome. 

  4. Rachel Jan 14 at 2:12 pm Reply Reply

    Is it echogenic bowel (bowel showing up too light on ultrasound)? I had that findding with my first and also was freaking out, nervous, etc. it was all fine…I had all the tests, kept going for ultrasounds, etc and it eventually just totally resolved itself. Good luck!!

  5. Melanie Jan 14 at 2:21 pm Reply Reply

    When I was pregnant with my baby girl the ultrasound showed enlarged ventricles in the brain and some calcium build-up in the heart that were consistent with downs. We were sent for high def ultrasounds with an “I’m sure everything’s okay but let’s get a closer look” from my doc. My husband and I just thought “oh fun pretty pictures” and when they suggested an amnio (we were too late for less invasive tests) we were completely caught off guard. I was completely devastated that there could be something already happening in my baby’s life that I couldn’t fix or make better. It is an awful feeling and I did feel so guilty because I knew that she would be loved regardless of whether she was a downs baby or not. I felt I had to quantify that every time I talked about being upset.
    We ended up doing the amnio because I needed to know so I could be prepared for whatever was going to happen and, in all honesty, I didn’t want finding out on the day of her birth to make it any less special. The amnio came back “normal” and she does not have Down’s syndrome so I don’t have any recommended sites or anything, but I would just say to relax and know that at this point you can’t change anything. Try to enjoy your pregnancy and control the things you can control for now and concentrate on how loved your sweet girl will be when she finall arrives.
    I know it’s a difficult and very personal decision as to whether you should get an amnio but for us it was the right decision. I am forever a Girl Scout and have the need to be prepared for any situation and that information was crucial to my sanity. It was the longest two weeks of my life waiting for the results but IMO better than how many more months.
    I feel for you and hope that you’ll update amalah as to what happens. I can tell from your Q that whatever the outcome your daughter will have a happy life and be cherished by her family.

  6. MR Jan 14 at 2:34 pm Reply Reply

    ((Hugs)) My second daughter was diagnosed with a congenital heart defect just after birth. Not at all your situation, but still – Holland. (Btw, thank you for that Amy!!) So, OP, I can relate to the whirlwind of emotions and “what do I do next?” feeling. I remember so clearly how the room just got quiet, not because the doctor stopped talking, but simply because I just heard nothing else because I felt the world changing. I remember staring at my beautiful daughter and thinking “but she looks so perfect!” I was still in shock and kind of stuck through discharge and going home. We had only been there a few minutes when my dh (one of those people who can’t just sit and relax ever) put a YouTube video up about my daughter’s heart defect and how they fix it. I was bawling before it was over. But it was kind of a good thing, because I went and hugged my baby. And while doing so, I realized that none of that mattered. I wasn’t going to love her less, and she wasn’t any less perfect. I gave myself permission to grieve when I needed to and to act as if nothing had changed when I needed to. And I gave myself permission to just feel it all out as I went. That’s the most important part – taking it in pieces. Because, ultimately, it doesn’t really change any of what you do now. You will go to a few more dr appointments now, but you will still buy baby items and set up the crib. You will learn more about Down Syndrome, but you will still rub your belly and smile at being kicked. And, you will feel everything out as it comes. Yes, there is still a pretty big chance that baby will be born without DS, but no matter what happens, your emotions are completely valid, and your baby girl is going to be perfect. ((Hugs))

  7. Janna Jan 14 at 2:47 pm Reply Reply

    I had a 1:23 chance of Down’s for our daughter following the nuchal translucency screen.  She is genetically normal, but it took us about 5 weeks after getting the “1 in 23″ phone call to hear the final, conclusive results from the amniocentesis we ended up getting.

    I’m would strongly recommend looking into one of the newer tests that uses cell-free fetal DNA, as they are many many times more accurate than the triple/quad screens and are almost as good as amnio.  There is one called MaterniT21 that was the first on the market in late 2011.  I requested it from my OB/GYN in March 2012 when I was going through this, and she wasn’t familiar enough with it to request it for me, but ask your doctor and push for it to see if they’ll give it (or a similar test) to you.  It just requires a vial of your blood and the turnaround time is much faster – about 10 days.  When I was researching it, the company capped costs for the parents at a max of $230 even if your insurance didn’t cover it.  So I highly recommend it so that you don’t have to wait, worrying, with all of the uncertainty and stress.  

  8. Ally Jan 14 at 3:03 pm Reply Reply

    When I was pregnant with my third he had cysts on his brain and a few other markers that were consistent with Downs. It was hard. I cried a lot and worried. After a number of tests and high level ultrasounds we found out he didn’t have Downs. I know the time before the tests is so hard. You imagine the worst and just want to know what you are facing. I hope you can find ways to distract yourself.

  9. Julie Jan 14 at 3:13 pm Reply Reply

    Check out Noah’s Dad’s blog, like Kelle Hampton’s blog, it has a great prospective on raising a small child with Downs. http://noahsdad.com/

  10. E's Mommy Jan 14 at 3:31 pm Reply Reply

    I’m an early childhood special education teacher. If you find out that your baby has Down Syndrome I recommend you look up and contact the birth to three developmental centers in your area. You can probably google them or your pediatrician should know what they are called. The one that I used to work at had a class for babies with Down Syndrome and their parents. Even if they don’t have a class I think (although I could be wrong) a diagnosis of Down Syndrome automatically qualifies babies to get some special education services, I don’t think they actually have to be delayed to get them. That means if you’re interested the center would either have you come in or send out some kind of special education staff to come see the baby every week. These people are usually good resources because they’ve usually worked with other babies with Down Syndrome. If the center doesn’t have a class it might be worth asking if you could meet any families with kids with Down Syndrome that go there. Congratulations on your new baby!

  11. Eileen Jan 14 at 3:32 pm Reply Reply

    I’m not a mother, but as a sister of a sibling with Down’s, I just wanted to give you a bit of moral support.  I would also recommend Kelle Hampton’s blog.  Although Down’s isn’t an ideal situation, if that does turn out to be the case for you, I can assure it is one of the most rewarding things that will ever happen to you.  It, of course, comes with struggles, but the love and purity of heart that you will find in that amazing little creature will give you so much more than yo uever dreamed.  I can honestly say that having a brother with Down’s has been so enriching and amazing that I wouldn’t want a “normal” brother.  He is the reason I get up with a smile every morning and I couldn’t love anyone more.  I wish you the best!

    • Isabel Kallman
      Isabel Jan 14 at 3:42 pm Reply Reply

      Thank you so much for this. Beautiful words from a sister. Made my day.

  12. Courtney Jan 14 at 3:34 pm Reply Reply

    I second Janna’s suggestion. The Maternit21 test would be a great option if you don’t want to pursue an amnio as definitive testing. It looks for free fetal DNA in the blood, and gives you a yes/no answer (unlike the quad screen). In my opinion, you have nothing to lose – except $230 if that would be hard for you to swing, and that’s assuming your insurance wouldn’t cover it. I had it done at 10 weeks with this pregnancy instead of an amnio and was happy with the test, the non-invasiveness, the reliability (which I looked into extensively, as a physician myself) and the relatively quick turn-around time (about 1 week total for me). At least with that test you’ll have more information and maybe can prepare better, either way. Best of luck with whatever happens, and congratulations on your sweet girl.

  13. Angela Jan 14 at 3:53 pm Reply Reply

    You can contact your local children’s hospital, and they should be able to put you in contact with a parents group in your area who will be able to answer a lot of your questions. The genetics counselor might have that information as well.

    Best of luck to you and your family!

  14. Steph Jan 14 at 3:54 pm Reply Reply

    I’m pregnant with my second as well and have been reading “Far from the Tree”, which is equal parts dumb during pregnancy (increases the usual anxiety) and incredibly reassuring as the chapters are all on things like Down Syndrome, Dwarfism, etc, and the big message that came through was that these families all love the heck out of these kids and their new lives. It definitely showed that it was still hard and challenging and that people need to ask for help when they need it, but I’d recommend at least reading the chapter on DS to give some context to the bigger picture. The fact that you’re already looking into resources shows what a great mom you’ll be to the new addition!

  15. hannah Jan 14 at 4:26 pm Reply Reply

    I carry a serious genetic abnormality, and ended up having not one, but two amnios. Not fun, but necessary in my case. I’d encourage it if it’s at all an option or will lead to definitive results, and then you can prepare as necessary. As a sister to a handicapped (not Down’s) brother, I second the other sister’s comments above.

  16. alloverthemap Jan 14 at 4:36 pm Reply Reply

    Just wanted to chime in with another vote for the MaterniT21 test. I had it done around 20 weeks after a weak Down’s marker was found on ultrasound. It was completely non-invasive and carried no risk to the baby. It also has the advantage of being a diagnostic — not screening — test, so you get back a yes/no rather than some odds.

    Sequenom (the company that does the test) even dealt with my insurance company on my behalf. Even though I had to have the blood draw in an outside lab (not at my usual hospital/clinic) and they mailed the sample to Sequenom, I ended up paying nothing. I didn’t even have to submit any paperwork or call the insurance company. It was amazing.

    • Stephanie Jan 22 at 9:27 pm Reply Reply

      Just wanted to correct your remark about MaterniT21 being a diagnostic test. It is NOT. It is a screening test. It has a higher detection rate and lower false positive/negative rates than the quad screen, but it is still a screening test. (And different labs quote different rates for all of the above because they all have slightly different studies and data.)

      (I’m a genetic counselor and talk about this test all the live long day. Just want to make sure the correct information is out there.)

      To the OP–If you are not scheduled to meet with a genetic counselor until later this month, I would still recommend calling. Oftentimes they will review things over the phone (I know I do because our schedule is booked so far in advance and people are nervous) and can point you in the right direction. I would also recommend not going too far down the “preparing for a child with special needs” road until you get a definitive answer, even though the drive for information is certainly revved up right now. 

      Good luck and hope you get answers very soon!

  17. Nichole Jan 14 at 4:42 pm Reply Reply

    Check out kellehampton.com.  She has a daughter with downs. Her blog is full of info and very uplifting.

  18. Jen Jan 14 at 8:32 pm Reply Reply

    Another vote for getting the most conclusive testing *you are comfortable with*–and not feeling pressured into testing you’re not comfortable with.  Remember, 1:6 chance of down’s means 5:6 chance of NOT having Down’s.
    Also, after testing or deciding not to get it, you can be in touch with your local children’s hospital or pediatrician to see what resources are available for children with Down’s Syndrome in your area.  They might be able to direct you to specialists, parent’s groups, resource centres, therapists and social workers who have worked with parents of kids with Down’s Syndrome, etc, etc.
    And Kelle Hampton’s blog is beautiful!

    • laura Jan 16 at 9:17 am Reply Reply

      YES, I was just about the say this exact same thing but scrolled down to see if someone else beat me to it. Those tests get misinterpreted a lot, and the math person in me cringes every time. Also, a 1 in 6 result doesn’t just mean a possible DS diagnosis, but a high risk for other trisomies and neural issues. It is obvious this family is in love with this kid and wants what is best, and the more information you have the better prepared you will be provide the best possible care for your child. The great news is, no tests have turned up any other issues (esp, heart or nervous system). I have never been in your shoes in terms of a prenatal diagnosis, but we had a scare once with my youngest when she was a baby (it looked like she was having seizures, which essentially can halt brain development, leaving her unable to advance past her 2mo state, ie, not even support their head). I felt overwhelming ambivalence about the personal stories that ended with “and then everything was fine!” so that isn’t the point of this story. Instead, my point is, when I told my husband what the drs were saying, he said, you know what hasn’t changed? “we will still love her and we will still do everything we can to help her be the best little girl she can be. So in that way, nothing has changed with the tests and nothing will change with their results.” And that right there brought me more comfort than anything else could during that horrible waiting period. sending hugs. I hope you find comfort during this journey.

  19. Kari Jan 14 at 9:23 pm Reply Reply

    Far From the Tree is an excellent place to start, I think. I found it very hopeful and uplifting despite the difficult themes (and I am currently a pregnant “geriatric” mom awaiting the results of my own quad screen). One of the common threads in it is that parents find it extremely helpful to connect with others in similar situations as soon as possible. Particularly, meeting with families with older children who have successfully faced whatever ability challenges them. Other families can really help navigate the experiences that may lie ahead and be a strong network for both you and your child, if needed. Or they can at least give you some preliminary answers to questions you have now. Best of luck.

  20. Nicole Jan 14 at 10:48 pm Reply Reply

    As an adoptive mom to a 2 YO DS, who was diagnosed with Cerebral Palsy while we were half a world away waiting for his paperwork to be processed.  Turns out our diagnosis was correct, and after two years in an orphanage, DS had significant delays.  But, know what?  He has come so far and we are considering adoptiong another child with similar special needs.  I had to go to China to find Holland, but I absolutely love it here.  (Amalah answered my question last year on what to register for for a two year old boy…HI!  I’ll send an update soon!)

    As the previous commenters said before, get the diagnostics to the extent you feel comfortable, and then give yourself permission to feel whatever you need to feel.  I experienced fear, anger, sadness, gratitude, joy, and much more all at the same time. 

    I have a handful of friends parenting infants and young children with Downs, many of them adopted.  Getting in touch with your local Early Intervention Services if you have a confirmed diagnosis of Downs will be helpul.  But, all in all, you’re having a baby, and that’s a wonderful, risky, beautiful adventure regardless of what you know…or don’t know.  

    Wishing all the best for you and for your family! OH, and don’t let this become the only thing that you and DH talk about.  Go out, have fun, feel and experience this together.  That’s important!

  21. Mary Jan 15 at 10:50 am Reply Reply

    Congrats Mama! Welcome to Holland! As my husband and I awaited amnio results for our son we went through that awesome roller coaster of emotions. I cried every time I looked at my husband. I cried every morning before work (I was a special education teacher at the time). And then one morning DH emailed me the link to a local camp that had summer camp geared specifically for kids with DS. And somehow, summer camp made it a little more manageable. So here are some tips from the trenches (for what they’re worth)

    1) Take a deep breath and have a damn good cry. I felt guilty for mourning. DON’T.FEEL.GUILTY.

    2) Lay your worries out on the table for your neonatologist and genetic counselor. They are a great resource and can get you in touch with other great resources (social workers, other medical specialists)

    3) Limit the Google and WebMD. 20 minutes at a time max. And following any research up with completely mindless, gooey, new mama foolishness like matching bedspreads, wall hangings, and rockers, and ridiculously adorable onesies.

    4) Slow down. You don’t have to know everything all at once. You don’t have to know everything ever. All the research in the world doesn’t make a bit of difference until you meet your baby. Your baby is unique and not like any other baby. You don’t need to be an expert on anything but them.

  22. abigail Jan 15 at 12:02 pm Reply Reply

    My second child was diagnosed with a chromosomal disorder, prader willi syndrome, shortly after birth.  Although we did not know he would not be typical during the pregnancy, I can empathize with what you are going through.  At the time, I recall thinking that I was living a nightmare.  Experiencing the worst thing I could imagine happening to my family.  Two years later, I cannot imagine my life without my special son.  Early development network is great, if your school system has one.  I also saw a therapist for a short time to help me process all my emotions.  It was soooo helpful just to say out-loud all of my emotions.  Having been there- done that, my advice to you is to enjoy what remains of your pregnancy and treasure the time you have with your newborn, just like you did with your first daughter.  I promise, within a short time, your family will adjust and be just as happy and “normal” as when you would have been with a typical child.  Being the parent, sibling, friend, of a disabled person is truly a gift.  If it so happens that your daughter is atypical, your outlook on life will change dramatically and you will be a better person for it.  

    • Nicole M Jan 15 at 5:03 pm Reply Reply

      My younger brother had Prader Willi syndrome.  While it certainly complicated things around the house in some ways, he was the most loving person.  I agree that he was a gift to our family, and our entire family is closer and better because of him.

      I absolutely loved the “Welcome to Holland” analogy and forwarded it on to my mom as well. 

  23. Elsha Jan 15 at 12:48 pm Reply Reply

    My son was born in March and he has Down syndrome. It was totally a surprise to us as we’d done no prenatal testing, but it’s been a great experience so far! 

    I’ve blogged a lot about it at vandeblog.com & I’m available to e-mail if she wants.

    Also, if it turns out the baby does have Down syndrome, I highly recommend the book “Babies With Down Syndrome.” It’s great.

    • Isabel Kallman
      Isabel Jan 15 at 1:04 pm Reply Reply

      congratulations on your newborn and thank you for sharing and offering to help. You are wonderful. :)

  24. Alitia Jan 15 at 5:29 pm Reply Reply

    My first pregnancy was a boy with Down syndrome (along with a host of other problems and hydrops which eventually led to a failed pregnancy). Before we learned of all the other problems and we were facing raising a Down syndrome child we met with our local Down syndrome association who gave us all sorts of helpful information and support. Check out ndss.org (national Down syndrome society) or nads.org (national association for Down syndrome) to find a local support group/chapter/association. Don’t feel bad if you cry, it’s ok. Also, really recommend the Kelle Hampton blog, love her and her writing. Very true to life. Good luck with it all!

  25. Barbara Jan 16 at 10:42 am Reply Reply

    Our 5th child, now 10mos was born with Down syndrome, which was not prenatally diagnosed. Given my natural neurosis during pregnancy we opted not to have any screening other than the regular ultrasounds.

    With that said, let me just encourage you that having a specific diagnosis for your daughter puts you way ahead of the game. Because I have 5 kids I can tell you all children have special needs, and many times those needs are met after a lot of trial and error and fighting with the medical community and insurance company. Shoot, you’ve read what Amy’s been through with Noah! So, take comfort that there is a lot of research and support for your daughter. I’m so so happy she has you as a mom, no matter how many chromosomes she has.

  26. Cary Jan 16 at 2:35 pm Reply Reply

    I also really like Disability is Natural. She has both a website and a book that can be purchased through the site. I found it was extremely helpful in teaching me the importance of person first language and thinking. My daughter is 2 1/2 and still non-verbal and non-ambulatory and may always be. I am at peace with this, and our goals are regardless of her progress that we will help her to explore, communicate, be valued by society, and to live knowing that we don’t view her as something that’s broken and needs to fixed. Your life will never be the same, and you wouldn’t want it to. Big hugs & Congratulations!!!!

  27. Eden Jan 16 at 4:29 pm Reply Reply

    I am probably all sorts of messed up according to psychologists be ause I do this, but it works great for me so I’m going to share with you! If your child does not have Down’s syndrome, you will get what you always imagined, a normal, healthy baby with no surprises. S now that you know there is a chance of DS, maybe your life is about to get shaken up, you’ll have to deal with things ap many other parents don’t, and having a child with a disability will have challenges, but man will it have its rewards as well. So, either way, your about to become a parent all over again, and give your wonderful daughter the best gift you can, a sibling. As a lactation educator, I can’t help but think about the misconception (like a lot of things with disabilities) that if your child has DS, you will not be able to breastfeed and you have no chance at giving your child optimum nutrition as an infant and will miss out on the bonding experience. That is absolutely false and I really hope you’ll get some resources on managing breastfeeding with a child with DS. Just expect you’ll have a different route, and some challenges along the way but you can still parent how you feel you should ;) from breastfeeding to everything else!

  28. Suzy Q Jan 16 at 7:35 pm Reply Reply

    Congrats!  What a lucky baby to come into your life, to a mother who is so warm and welcoming and loving.  I hope all goes well.

    When my schedule used to permit, I volunteered at a school for kids with Down Syndrome and autism. It was one of the best experiences of my life.  I got to interact (in a variety of situations) with kids from ages 5 to mid-20s and see them grow and progress over the years. What I learned is that early intervention is key.

  29. S Jan 18 at 4:21 pm Reply Reply

    I hesitated on posting this originally, and I want to give a different perspective. Here is my background: I have a younger brother and a much younger cousin with DS, whom I love dearly. I also had some of the tests done that you’re considering (NT scan w/ triple screen and Verifi which is like the MaterniT21). I got negative results on the Verifi after a high NT but we found a series of abnormalities incompatible with life at our 20-week structural ultrasound and chose to terminate.

    On the DS issue: DS is not a death sentence, but it is a life sentence. By that I mean that your child will always have it and you likely don’t know the degree of severity of their disabilities at the moment. Yes, there are wonderful things about having a family member with DS. There is also a lot of heartache and difficulties that people who don’t have a person in their family with developmental disabilities will never understand. While that’s true of having ANY child, know that whatever decision you make, you deserve to not be judged by anyone for making it. Having a child with disabilities is EXPENSIVE. Someday when you’re not there, they will need someone to be their caretaker. Your ENTIRE family will be affected, for good AND for ill, by the presence of a child with special needs. DS can also be accompanied by other significant health challenges and it is a good idea to have a full picture of what those challenges are, particularly if your doctors have already found abnormalities outside of DS.

    On the testing issue: For me, more information is ALWAYS better. The more informed you are going forward, the better. The NT scan and triple screen results we got gave us a 1:223 likelihood of DS. The odds for our final diagnosis were 1:10,000-50,000 – there simply aren’t enough cases identified to have a good sense for how prevalent it is. While I dearly hope you aren’t the 1:6 your doctor thinks you might be, a good equivalent in your case is rolling a dice – how likely are you on a dice roll to get a particular number?

    I know this is not the happy, everything-will-be-fine response you have gotten from other posters. I’m sorry that you’re going through this up-ending of your expectations for a healthy, normal pregnancy and baby. I do hope it will give you an alternate frame of reference from which to consider your options and that you are at peace with whatever you choose to do.

    All the best in this difficult time,
    S

    • Stephanie Jan 22 at 9:30 pm Reply Reply

      What a excellent and brave response, S, thank you for posting that. 

      • S Jan 23 at 1:45 pm Reply Reply

        Thanks, Stephanie! It has certainly been a rollercoaster of a trip. I also want to put in a plug for the OP, forgot to mention, that there are some really great forums for moms in her situation on Babycenter. There’s a space for parents of kids w/DS and space for parents who terminated pregnancies for DS. Both spaces are worth checking out.

  30. Caitlin Jan 23 at 12:25 pm Reply Reply

    Lots of love to you.  

    I read an excellent book called “Expecting Adam” years ago.  It is about a woman pregnant with a little boy with DS.  The book isn’t really about his DS but it was an extraordinary book which you might want to look into.

  31. A Jan 25 at 12:44 pm Reply Reply

    My older brother has Downs. He lives in a group home with other high functioning adults with Downs, he has a part time job, he has had the same girlfriend since he was 10 years old. He has an incredible spirit, a generous nature, and an understanding of people that goes beyond intelligence. It was not always easy for my parents to raise him, but they probably had a harder time with me, the difficult/defiant one! If your child does have Downs,
    S is right in that it is for life. But it is also a gift. Everyone who has ever met my brother loved him. Several of the people who have worked with him over the years say that he has made them a better person. We cannot walk down a sidewalk in my hometown without people greeting him. I am so lucky to have him as a brother!

    Good luck to you and I hope everything turns out well. You sound like an amazing mother and I know you will be able to handle whatever comes your way.

  32. Christina Jan 28 at 7:12 pm Reply Reply

    Every pregnancy is always scary and there will always be risk. That is why each baby is always considered a miracle no matter what. Congratulations and your story is indeed inspiring. Stay strong!

  33. LauraL Feb 04 at 1:22 pm Reply Reply

    Forgive me if I’m repeating; I didn’t have time to read through all the answers.

    I had a very similar scenario, except my nuchal fold translucency + quad screen = 1 in 5 chance. EVERYONE around me did the “Oh, that means a 4 in 5 chance everything’s fine” – which I did appreciate, but I kept saying someone’s gotta be that 1. Turns out, yes, I was that 1. The day we got the conclusive diagnosis, my husband and I cried for a bit and then got on with it. You DO have to mourn the loss of the child you thought you were going to have, and that’s painful. The upside side is that (should you decide to continue the pregnancy and keep the baby) (I say that because I do not presume to know what people will do) you’ll be able to be excited when the baby actually arrives. The second half of my pregnancy, I was unable to think of my son in any terms except his diagnosis. Once he was here, he was just Malcolm. And the DS is a part of him like red hair and blue eyes, and honest to God, I wouldn’t change it if I could. He is that freaking awesome.

    Now, for practical matters: You don’t say where you live, but there likely is a local support group for Down syndrome. If not, there should be a state-level one. Call them. Many have a prenatal outreach kind of person who can answer any questions you have, provide a listening ear, point you toward some resources, etc. I have not encountered any that are pro-life persuaders; they just want people to be able to make INFORMED choices. Our big questions were what is life for/with a child wiht DS like, would our daughter resent him, what were some of the medical possibilities, and so forth. They people who could answer those were ones who’d been there, done that. 

    Online resources for you include:
    http://lettercase.org/ – understanding a diagnosis; you can download a booklet free that will answer a lot of questions. Awesome, awesome people.
    http://downsyndromepregnancy.org/ – again, fantastaic people, all about pregnancy with DS, good information
    http://www.ndsan.org/ – National Down Syndrome Adoption Network; answers if you don’t think you can parent a child with DS/want to place the baby for adoption/want to adopt a child with DS. There is currently a waiting list; at times, it has been more than 200 people long. 
    http://www.ndss.org/ – National Down Syndrome Society
    http://ndsccenter.org/ – National Down Syndrome Congress

    Sorry for the book here, but I so honestly get where you are. And there are answers out there and people who are happy to talk with you honestly. It’s not all rainbows and roses and sparkles, but parenting is parenting is parenting. And it’s fantastic. Good luck!

  34. LauraL Feb 04 at 1:30 pm Reply Reply

    Unbelievably, given the length of my previous, I forgot something:

    In the past 20-25 years, the life expectancy for people with DS has more than doubled. Most of the time, the cognitive impairment (preferred term to “mental retardation”) is mild to moderate, but there is no way to tell prenatally where your child will fall on the spectrum – just like typically developing children and intelligence or compassion. It occurs in about 1 in 670-691 births (depends on where you get your info), and there are approximately 400,000 people with DS in America today. People with DS tend to have superb emotional and social abilities, and most learn better visually, which is why reading  tends to be much easier than math for them.

    All of these are generalizations, but they are some of the lesser-known facts. There are a lot of myths, and things have changed A LOT in the past 20-30 years. Both my husband and I had to let go of memories from our childhoods of what children with DS were like.

    Again, best of luck. I’ll keep you in my thoughts. 

  35. Lana Mar 16 at 5:54 pm Reply Reply

    I’m just reading this now- but I wanted to give you some comments as someone who works with a beautiful, inspiring, amazing little girl with DS every day. She’s changed my life in ways I couldn’t have imagined. 

    I’m a developmental specialist for children who have special needs. I provide one-on-one play therapy for my clients, in their home with the support of a battery of therapists. We work on everything from gross motor to cognitive things every day- but to the kids I’m just a big goof that comes and plays every day. 

    If you haven’t- check out the blog Noah’s Dad. It’s got some good information, the mother is a pediatrician, but I don’t agree with ALL their comments. 

    If your locale allows it- try and get services set up pre-natally. This will help make sure you can hit the ground running when baby is born. For instance- you may need help breastfeeding because children with DS tend to struggle with hypotonia (low muscle tone- which makes everything from smiling to walking difficult.)

    I’d also start thinking of your “vision” for your daughter. What do you want her life to look like? Do you want her in a typical preschool learning alongside her peers (inclusion model.) Do you want her to always have an aide or would you prefer to to be able to function independently and have the teacher adapt for her? It doesn’t have to be pretty- but write down what you want for her now so that when all the decisions have to be made in a few years you can refer back to it. You’re going to have to fight for her- a lot- so having that to fall back on has been helpful for a lot of my clients. 

    Contact your local Down Syndrome society. Explain that you’ve got a probable pre-natal diagnosis. They’ll send a group of parents who are currently raising children with DS to you, to support you and help you through this. Seriously- get a support system- and get it now. 

    And lastly- this is NOT the end of the world. It’s going to be okay. If you’d like you can contact me and I’d be happy to share with you photos and stories of some of my clients (whose parents have given me permission for this exact reason) who are in a typical school, with their typical peers, learning and being loved. They do everything the rest of the kids do- sometimes with some help- but they do it. It’s going to be okay! One thing is that DS helps you put things in perspective- you’re going to savour every little victory cause you’ve worked so hard for it. It’s a pretty joyful way to live. 

    All the best!

  36. Athena Apr 28 at 11:19 pm Reply Reply

    I love that Holland metaphor, it’s very beautiful. At the same time though, it makes me wonder how it would apply to our family. After all, I’m kind of HOPING to land in Holland (and trying not to feel bad about that) because dear god how will three auties manage to raise an NT? Or does that make autism our Italy? (particularly what with the omg ALL the family history, practically so… our plane really, really is most likely to land in autism)

    Of course, after spending a decent chunk of pregnancy going “OMG WHAT WILL WE DO IF HE’S NORMAL?”, I realised some four-five months in during yet another full-blown scream-out over changing his nappy that “crap, I’m not entirely sure what we’ll do if he’s NOT, either!”

    So maybe I’m just the lady who grabbed her ticket in a lucky dip and burned the travel guides :P

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