A life-altering diagnosis: I just found out my unborn child has Down Syndrome

October 15 2012 | Guest post by Megan
Photo by spaceodissey, used under Creative Commons license.
I knew I was pregnant the moment I conceived. Call it a woman's intuition or a case of mother-knows-best, but I knew. As the weeks went on and I could finally take a pregnancy test and receive reliable results, my partner Brian and I stared at the giant plus sign and I said, "I told you so." As things progressed, I also knew I was having another boy. Friends and family members would wink and say, "What if it's a girl this time?" And I would smile and nod and join in the what-ifs, but I always knew deep down that Atticus would be getting a little brother. And when our doctor confirmed this at 16 weeks, I just shrugged at my own intuitive nature.

So when I got additional news about our son, I was shocked that I didn't already know…

It all started at our 20-week ultrasound. It's supposed to be a fun glimpse at the life growing inside, a check of basic anatomy, and a reassurance that all is well. For most moms it is. Our doctor found that our little guy had slightly dilated kidneys, but she wasn't worried about it too much. Even so, she sent us off for a level II ultrasound the following week, just to make sure that it wasn't anything serious.

Brian offered to come with me, but I took my doctor's reassuring words to heart and told him I'd be in and out in no time at all. He had just started a new job and couldn't realistically make every single appointment. I did a little research into what dilated kidneys could mean, and learned that it could be anything from a temporary fluid build-up that corrects itself before birth, to a marker for Down Syndrome.

As I was lying on the table with the unbearably cold ultrasound jelly smeared over my abdomen, it became clear to me that the ultrasound tech was looking for other signs of Down Syndrome. She measured the heart, the level of fluid behind the neck, the length of the arms and legs, and the shape of the pinky finger. She said very little as she worked, then told me the doctor would be in soon to talk with me. It turns out that in addition to the dilated kidneys, the baby had other markers for Down Syndrome.

A genetic counselor came to talk with me and rattled off a number of statistics and testing options, ending with a recommendation that I have a DNA test that can definitively say whether the baby suffers from a chromosomal abnormality. She stressed that there was still less than a 1% chance that anything would be wrong and the test was merely a tool to give me peace of mind. The results would take two weeks and she'd call me when they came in.

Enter the longest two weeks of my life. I must have googled every variation of the words "soft markers for Down Syndrome" a thousand times. Sometimes the results made me feel better, more often they sent me into a tailspin of worry. In these two weeks, I learned that my friend Susan was in the ICU after a horrendous car accident and every member of our family had a terrible bout with the stomach flu. It was a dark time.

I finally got a call from the doctor: our second child has Down Syndrome.

The news was mind-shatteringly, heart-wrenchingly painful. I managed to cycle through a wide series of emotions in the matter of minutes. I grieved for the "normal" child I expected. I cursed whatever higher power would place this on our shoulders. I stared dumbfounded at the wall thinking that if I remained still long enough, the room would stop spinning.

We were suddenly faced with a multitude of choices. According to recent statistics, 80-85% of prenatal Down Syndrome diagnoses end in termination of the pregnancy. It crossed my mind for a moment, and should I have received this news at 12 weeks into my pregnancy, it would have been a viable choice. I can't judge women who take this path when faced with such severe news, even when they are as far along as I am. The emotional, financial, and physical implications of raising a child with Down Syndrome are mind-boggling. But for us, at 23 weeks along, this wasn't a choice we could make. Our baby is no longer a clump of cells. I'd been feeling him roll and tumble in my stomach for weeks. We gave him a name. We gave him an identity. Termination was not an option for us.

Apparently there are waiting lists for infants with Down Syndrome so the option of placing him for adoption seems a legitimate choice. Despite all I said above regarding the true "life-likeness" of this child, he's still an abstract idea. He's no one I've met yet, and our bond has not developed. Somehow having this diagnosis now instead of after birth actually makes it harder for these reasons.

I only had attachments to what this child could become, and I expected him to become something very different than he will ever be. That's not to say that he won't be amazing, but raising a child with Down Syndrome poses a new set of limitations. I will likely never see him graduate from college. He probably won't marry or have kids of his own. He will be either fully or partially dependent on us his entire life. And since the life-expectancy of an individual with Trisomy 21 is 55-60 years old, I very well may outlive my son. These are harsh realities, especially for parents already daunted by the task of raising a two-year-old in a new city, working new jobs, and starting new lives. We've been isolated and lonely for months now, and this news just makes us feel completely lost.

Nevertheless, I don't think I can let someone else raise my child. I know that even if I did decide to make an adoption plan, I wouldn't be able to bring myself to let him go when the time came. And despite my surprise at this new challenge when my intuition into every other aspect of this pregnancy seemed so strong, I do know for certain that I will love him no matter what when he arrives.

I feel like most people face at least one big challenge in their lives. Sometimes this takes the form of illness or the loss of someone close. Sometimes it's poverty, unemployment, or addiction. We all have a moment that tests our strength and willpower as human beings and, until now, I've never really experienced something this life-altering. So if I'm due for a challenge, I feel so fortunate that mine is also the blessing of a child. He will be loved.

  1. My two little sisters-in-law have Downs Syndrome; one is biological and one is adopted. If you're interested, my MIL's blog is: http://lilasmiraclelife.blogspot.com– she has chronicled their journey through the whole thing. It's been crazy, but good. Another DS blog I like is http://kellehampton.com — it can get a little too sugary for me sometimes, but it gives good perspective. I think the bottom line here is DS is by no means a death sentence or a condemnation. It is an opportunity. It might mean you have all different goals for your son (than your elder typical son), but this new little boy will continually blow you away, make you angry, cuddle you, make messes, and make you laugh– just like any other kid. Just keep on staying informed and you will be as prepared as anyone possibly can be in the face of parenting any child. And, just as a fun little thing, I LOVE holding kids with DS because they're so floppy and cuddly due to their insane flexibility. Good luck with everything! It'll be good.

    2 agree
  2. This made me cry! I got a phone call from my doctor last week that my baby has a 1 in 85 chance of having Down Syndrome. My husband and I feel exactly the same way you do. We can't abort or give him or her up for adoption because we tried so hard to conceive and we'll love our baby no matter what. We have our 20 week ultrasound in about a month, and hopefully that will give us more answers than the blood test did.

    Thank you, Megan, for writing this, and thank you to Offbeat Mama for posting it here. I really needed to read this, and the timing couldn't have been better for me and my family. You have given me the comfort of knowing that I'm in good company if my baby does have Down Syndrome.

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    • Anna, my heart goes out to you and your family and I'm so glad my experience has offered a source of comfort. If it's an even further comfort, I actually submitted this post a few weeks ago, shortly after receiving the diagnosis. Over the past month or so, my research has led me to a place of acceptance and even allowed some of the excitement of pregnancy to return. It took time, but I have learned that this diagnosis is not the end, but rather a new beginning for my family.

      I've been updating my blog as we continue with this journey, and I urge you to read my last few posts, as they truly encapsulate my range of emotions (www.meganmennes.blogspot.com). It hasn't been easy, but we WILL get through this. If you ever want someone to talk to, please feel free to contact me. I wish you and your husband all the best and congrats on your pregnancy!

  3. Megan,
    I just wanted to chime in as someone who has worked in disability support for youth and adults, including individuals with Down Syndrome. You are absolutely right that raising a child with this type of difference is very life-changing, and that he will be dependent on his family in ways that "typical" children may not be. However, there are many people with Down Syndrome who are able to have joyful, love-filled romantic relationships. Your son may not end up getting married… or he might find a wonderful partner that he can be very happy with. There are many organizations that provide support services to couples and parents who have developmental disabilities! 🙂

    Wonderful post, thanks for writing!

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  4. As someone who manages group homes for people with developmental disabilities, I just wanted to give you some encouragement (but I can understand ALL of your feelings…this can be tough to come to terms with). People with disabilities can lead very full lives :] This will be quite the undertaking for you guys, as DS kiddos come with their own set of challenges. But keep in mind that they aren't necessarily more "difficult," but just different. They will need help with different things, but will surprise you with how much they can do for themselves!
    Also, from my experiences, I've noticed that many parents feel guilty if they need help. It's NOT a sign of weakness should you need to hire an aide, go to support groups, or if you eventually make the decision to have your child live in a group home. Make sure you continue to prioritize yourselves and your mental health too!

  5. There are lots of organizations and resources out there for parents of children with disabilities. When you're ready, I'm sure there are parents who would love to sit down with you and tell you about their experiences and mentor you and your partner.

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  6. Just wanted to offer my support and encouragement! You'd be amazed by the some of the awesome programs for adults and children with developmental disabilities. I work with adults with developmental disabilities, and clients with Down Syndrome are often my favorites!

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    • Hey, I hope I'm not derailing this convo. My brother in law is developmentally disabled (fragile X, and they think he may have autism also, but we aren't sure). I would LOVE it if some/one of the folks referring to the support for families with developmentally disabled folks could send me an email about how to find some of these resources. My in-laws are really struggling, because they don't have any help with him other than gov't healthcare and social security, but no social help. He graduated from his job skills training program without enough skills to actually get a job (well, it's really that he can't keep a job, he's had a few, but then he throws a fit and gets fired), and there doesn't seem to be any other resources we have found yet. They can't leave him alone safely, and have no one to watch him. They literally never get a break and its about killing them. We have struggled to find ways to help them (my partner and I live across the country). If you know of where I might start looking for resources to help them, you would help our family so much! Thank you. (BTW, they are in CO, and he is 22.)
      caroskis at aol dot com

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      • try caregivers.org for a start, and contact their state and county governments. we are in oregon and the govt has programs to help with some caregiving.

      • Where in CO? I teach at a special needs school in Denver (preschool, but a lot of the resources are connected), I could probably find some information for you.

  7. Again I'm amazed at the quality and direction of the writing at Offbeat Mama. Thank you for sharing your experiences, thoughts and feelings with a wide audience, and thank you for not judging other moms and families who've made different choices from your own. Congratulations on your pregnancy and while the road ahead is one less travelled, I'm sure it will be filled with as many happy times as others!

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  8. Al that was "normal" will change..but you will get used to a different normal. The love for your child is strong enough and will overtake everything else. Yes, it will be difficult, but raising any child is difficult. When you find your new rythm, or normal with this child you will find it does not feel more difficult than raising any other child. You just get a set of different challenges. I wish you all the love in the world. You are a good mother, sensible, intelligent and with a good heart. I strongly believe children pick their parents. This little boy picked you and your family, because you are the only one strong enough and loving enough to raise him. Never forget that!

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  9. Megan,

    Thank you so much for writing this article, I have no situation to equate to, but it helped me with a lot of 'what if's' floating around in my head. I hope you keep us updated, and really glad to read that the joy of pregnancy is returning. Your son is going to ROCK!

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  10. hey lovey, have you ever read kelle hampton's blog, enjoying the small things? she has a beautiful story of her little girl with down syndrome – i believe it was shared on here at one point. she also published a book recently called "bloom" – it's gorgeous. her website is kellehampton.com
    lots of love to you and your growing family xo

    editing to add:
    i hope i'm not stepping on your toes by sharing that. i am the kind of person who likes to read and research a lot and reading other stories helps me, but if my comment was inappropriate in some way, or some sort of "jacking" of your story, i'm terribly sorry. my only experience with children with down syndrome is in a school setting, and not as a parent, so i hope it's okay that i offered what i had.

    • No! I totally appreciate all the resources I can find. As I mentioned in a previous comment above, this post was submitted a few weeks back, just after receiving the diagnosis. In the weeks since, I have stumbled across numerous first-hand accounts and resources, and Kelle Hampton's blog is one of my favorites! Her little girl is just beautiful. Somewhere on there she says, "sometimes I think Down syndrome is the best thing that's ever happened to this family" and those words have stuck with me as I've worked to find peace in our new reality. I'm so excited to meet my little guy and experience the joy he will surely bring to us all. Thanks for sharing!

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  11. I don't know if you have read this story yet, called "Welcome to Holland" by Emily Perl Kingsley, but I believe it wonderfully sums up the feelings of having a child with a disability (I am saying this without having this experience myself, but being a pediatric nurse specializing in medically fragile children).
    Here it is-
    "I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this……

    When you're going to have a baby, it's like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

    After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

    "Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

    But there's been a change in the flight plan. They've landed in Holland and there you must stay.

    The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

    So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

    It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.

    But everyone you know is busy coming and going from Italy… and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

    And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very very significant loss.

    But… if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland."

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    • For a different take, I really appreciated Rob Rummel-Hudson's perspectives on the Holland story:

      So we celebrate the child we have, and we do so without reservation, without an asterisk or a qualification. But we don't let ourselves buy into a pretty lie, one which suggests that gentle words or peppy cheerleading or the niceness of a figurative Holland will protect our children if the Big Bad decides to visit.

      Read the full piece: http://supportforspecialneeds.com/2012/01/30/the-big-bad/

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    • I have a special needs child and 7 years ago this poem changed my outlook, I continue to share it with parents everywhere because it is so fitting in situations like these!

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    • My sister read that when her child was born with DS. Five years later, she commented, the problem with this story is that Holland is blatantly not as good as Italy. That's not what parenting Alfie is like. She reckons "Welcome to Jamaica" would be more appropriate – just as amazing as Italy, just as sunny as Italy, but potentially, a lot more funny.

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  12. My son had a pile of congenital heart defects, not a developmental disability, but I know EXACTLY how you felt when you got the news that that "perfect" little life you thought you were creating was not going to be so perfect. It was – and is – crushing, and I still have days when I wake up and ask the universe a mighty "WTF?" despite having a happy little boy snuggled up next to me. Wait until you get those first real smiles, then those first real hugs, and then the next beautiful thing, and the next… It means a lot to me to see other parents bravely embracing a life they didn't expect, so thank you for sharing.

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  13. Thank you so much for writing this. It has really touched my heart! I am a physical therapist who has spent an internship working with preschool age children. Many of those little ones had Downs. Based on my limited experiance, I think you are in for something amazing. I know it was the highlight of my week when I worked with a particular little girl. Please know that there are lots of people, (neighbors, teachers, various medicals professionals, random grocery store strangers) who want to support you and your baby. May I share a link to a great blog?

    http://confessionsofthechromosomallyenhanced.blogspot.com/

    The author has an adult sister and an adopted daughter who are rockin' that extra chromosome.
    You are in my thoughts Megan. Thank you for bravely sharing your story.

    1 agrees
  14. wonderful post, and wonderful comments. as a woman in her forties with her first pregnancy, and health problems that made me think i shouldn't ever have a baby, i was concerned about Downs. i came to the same conclusion you did.

    i also feel like relinquishing control is part of getting pregnant and setting off on the weird journey of childrearing. we don't always get to decide everything in our lives, including whether the biological clock tells us to reproduce; whether we'll get pregnant; whether we'll carry the baby to term; whether we'll have to get a C section; whether we'll be able to breastfeed; and as i'm sure you know, raising your toddler, we don't get to decide and control all that much about how our kids "turn out." they're born with personality characteristics, health problems, and predilections. your guy will have some challenging ones. i hope a bunch of blessings come with that.

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  15. My 8 year old had DS. I adopted her at 13 months of age. You will find a new normal. But most importantly, before anything else, he is your child, diagnosis not withstanding.

    I encourage you to read blogs, see what life is like, what parents feel. I would be happy to recommend some!

    You can also find a few at http://WWW.thet21travelingafghanproject.com

  16. My 8 year old had DS. I adopted her at 13 months of age. You will find a new normal. But most importantly, before anything else, he is your child, diagnosis not withstanding. I encourage you to read blogs, see what life is like, what parents feel. I would be happy to recommend some!

    You can also find a few at thet21travelingafghanproject (dot com)

    1 agrees
  17. My cousin has downs syndrome and has to live with her parents still, but she's in her twenties with a college diploma and has a good job working with kids which she *loves*. She's super friendly, religious and loving. But it helps that she has a wonderful family and several siblings; that's what really makes it all work.

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  18. Our adopted son has Down Syndrome and other medical issues and the ds has been the least of our concerns… it really does shift your view of normal, but they really do everything that a typical child does, just at a slower rate – and those milestones, they are so, so sweet! I cant even begin to tell you how much you will celebrate every little thing… it really does make you so grateful for all the little things.

    with that being said, Im not going to lie, it can be really, really hard sometimes too… our son is so, so stubborn that he can be absolutely aggravating.

    but really its all worth it in the end because thats your child – your heart, and I hope you keep us updated on your journey!

    1 agrees
    • I also follow alot of blogs of parents of kids with down syndrome… if you'd like to view them let me know – I think they are a good source of the every day life that isnt always sugarcoated… 🙂

  19. i'm conflicted. we had our 2nd trimester anomaly scan last week that showed an isolated marker for Downs.

    in itself it may well be insignificant, but that discovery suddently made the idea of our baby being less than 'perfect' a reality.

    suddenly, from a normal 1st trimester anomaly scan and bloods, this new discovery came up to burst the bubble.

    your story hits so close to home it hurt to read. you're not alone in the fear and uncertainty.

    i just know that i too love my baby girl now and forever in a way words cant describe… "no matter what". and your words have given me courage and strength i never knew i needed. *hugs*

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  20. I love this post as well as the comments! I do not have kids yet but this has always been something I've contemplated and wondered what I would do with the same choice. Originally, it was one of the reasons I am pro-choice. But hearing stories of fulfilled lives or families and individuals with down-syndrome, I'm not sure I would be able to terminate the pregnancy.
    Anyway, it is comforting to know that others juggle and weight the same choices. Thank you for sharing!

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  21. I want to thank you for your comments about not judging families who choose not to continue a pregnancy following this diagnosis.
    Last year, at 30 years old, I received a 1:22 chance at my 12 week scan. I had a CVS test and the next day I received a confirmed diagnosis that our baby (our first) had downs syndrome.
    Our hearts broke and we struggled to make a decision, considering long and hard what it would mean for our family and the rest of our lives. After the most intense few days of my life (and I'd been through some challenging shit before this!), we chose to terminate at 13 weeks.
    Today I hesitated to read your story, and I think I chose to in a way to check if my pain was healing. I found that line truly comforting.
    You and I made different decisions that suited our different lives, and I strongly believe neither decision was wrong. I sincerely wish you and your family every happiness with the arrival of your little boy.

    1 agrees
    • Rewarding or not, the diagnosis itself will still greatly change my life and in a more significant way than if my son were not born with special needs. Keep in mind, the title reads "Life-altering diagnosis" not "discovery." Pregnancy is not a diagnosis. Also keep in mind that these are the thoughts I experienced immediately following the diagnosis…I think I was entitled to the emotions I expressed, as is every woman who faces the same news.

      I can affirm that already my life has been altered by this diagnosis and I am only 30 weeks along. I go to three different specialists weekly for close monitoring due to the health risks associated with Ds. My little guy has fluid in his chest cavity, a dilated kidney, calcifications on his liver and stomach, and will likely spend weeks or even months in the NICU upon delivery.

      Even when he makes it through all of this, my life will be forever altered by weekly physical therapy sessions, visits to specialists, and navigating the waters of special education policy. I'm not saying that any of this isn't worth the time needed for my son, but it is drastically different than the experience I had with my first during his first two years. I look forward to the many rewarding years to come with both my children and know that my life will be better because of him, but it will be different and I think that's a fair statement.

      5 agree
  22. I would never have left a comment on a post like this if not for a nifty little tracker called sitemeter on my blog. I happened to notice some traffic to my blog from here and well, here I am. And why would I have not ordinarily left a comment? Well you see, I have been told by a number of people, medical professional, therapist etc., and the hardest people of all, mothers from within my DS community, that I would hardly be a good welcome wagon for families just receiving a Down syndrome diagnosis. And you know, that still stings. A lot. And I hesitate reaching out. I hesitate in sharing our story. Which really is, our remarkable daughter Zoey's story.

    We do not have the fairytale life with a child sporting an extra chromosome like Kelle Hampton. But that does not make our life, any less beautiful. Our road has been different and Zoey's journey arduous and hard. But it has been blessed and magical and gifted. In ways we could have never imagined.

    We often tell people, when they see the span in our children's age, and why we started over when that empty nest was within reach, and we say that Zoey was what we were waiting for all of our lives.

    You know, I have learned and lived by this over the last 5 years: The day we held our seemingly perfect and typical babies in our arms, we had and have no idea what lies ahead in their future. We do not know if illness, a tragic accident, alcoholism, drug abuse, or say unforeseen mental illness, will sadly befall them. We just can't possibly know.

    With these children we have a little heads up. The ability to prepare and seek out help and support. Forewarned is forearmed mentality. I think that is a gift that cannot be missed.

    Megan, I am sending you love and light across the miles. Peace and strength for the journey. I may not be the best of welcome wagons but I feel like it is my duty and actually my privilege to share Zoey's story of faith and hope. It is infact my honor to do so.

    Take care and oh, I forgot to say: Congratulations. That gets missed a whole bunch when life happens while we were busy making other plans.

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  23. Reading this was very comforting. My husband and I an our 6 yr old son just went for our 20 week ultra sound where 2 soft markers were seen. Echogenic bowels and a calcuim deposit on the heart muscle. One of either probaly wouldnt seem too worrysome but because of both a geneticist came in to speak to us. We are waiting for the Materni21 results. But Im already deep into the google searching. Im apppauled at how many "just abort" responses pop up, we are not considering that at all, im jut soothing myself with stories. Thank you all for yours. God bless.

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  24. Thank you for sharing this incredibly personal journey with us. And thank you to Offbeat Families for continuing to share stories that REAL people care about. What an incredible journey you're on, and you know this already, but ultimately, LOVE will guide you.

  25. I will tell you the same thing my friend (her youngest daughter was born with Down syndrome) told me when my second youngest daughter was diagnosed with Down syndrome. “You have been given a most precious gift unlike any you have ever known” It’s not going to be easy raising your child.. its not easy to raise any child ..but it will be the most worthwhile journey…and you will have the most special connection with another human more special than you will ever know with anyone else ..including your other children.. congratulations on your new baby 🙂

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