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Beautiful Road Ahead

When You’re Waiting For the Test Results

By Amalah

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!

Amalah
About the Author

Amy Corbett Storch

Amalah

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 Ama...

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 [email protected].

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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Isabel Kallman
Admin

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

Heidi T
Guest
Heidi T

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
Guest

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

Kacie
Guest

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,… Read more »

Rachel
Guest
Rachel

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!!

Melanie
Guest
Melanie

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… Read more »

MR
Guest
MR

((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… Read more »

Janna
Guest
Janna

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… Read more »

Ally
Guest
Ally

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.

Julie
Guest
Julie

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/

E's Mommy
Guest
E's Mommy

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… Read more »

Eileen
Guest
Eileen

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… Read more »

Isabel Kallman
Admin

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

Courtney
Guest
Courtney

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… Read more »

Angela
Guest
Angela

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!

Steph
Guest
Steph

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… Read more »

Isabel Kallman
Admin

Steph & Kari,

totally NOT doing a hijack thing here. But, just as an aside… we’re currently voting on the Alpha Mom Book Club pick for Feb and Far From the Tree is in the running. I have been hoping it gets picked and if we discuss it hope you’ll join us: https://alphamom.com/parenting/baby/february-parenting-book-club-voting/

Isabel

hannah
Guest
hannah

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.

alloverthemap
Guest
alloverthemap

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… Read more »

Stephanie
Guest
Stephanie

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… Read more »

Nichole
Guest
Nichole

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

Jen
Guest
Jen

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… Read more »

laura
Guest

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… Read more »

Kari
Guest
Kari

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… Read more »

Nicole
Guest
Nicole

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… Read more »

Mary
Guest
Mary

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… Read more »

abigail
Guest
abigail

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… Read more »

Nicole M
Guest
Nicole M

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. 

Elsha
Guest

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
Admin

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

Alitia
Guest
Alitia

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.… Read more »

Barbara
Guest

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… Read more »

Cary
Guest
Cary

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… Read more »

Eden
Guest

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… Read more »

Suzy Q
Guest
Suzy Q

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.

S
Guest
S

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… Read more »

Stephanie
Guest
Stephanie

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

S
Guest
S

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.

Caitlin
Guest
Caitlin

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.

A
Guest
A

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… Read more »

Christina
Guest

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!

LauraL
Guest
LauraL

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… Read more »

LauraL
Guest
LauraL

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… Read more »

Lana
Guest

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… Read more »

Athena
Guest
Athena

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… Read more »