Saturday, August 8, 2009

20-Week Dr Visit: Part 2, The Bad News

(suggestion: read Part 1, the blog below, first)

I unrolled the massive pile of pictures and spread them across Damon and myself so we could both view. We stared in awe at our little girls. Some of the pictures were so incredibly clear that we could make out the little details in their faces! I looked at Damon and he was white. “I feel like I’m going to throw up.” He said. “I know.” I agreed, trying my hardest to remain calm.

Dr. Chang entered the room followed by Julie and introduced himself to us. His tone was very serious and he didn’t waste any time. The ultrasounds revealed an echogenic focus (a white spot) on each of the babies’ hearts. While the echogenic focus alone did not indicate a heart condition, it was a “marker” for Down syndrome. My jaw dropped. I looked at Damon who was staring intently at the floor.

Trying not to jump to conclusions, I asked him what that meant. He told us that there were medical studies that suggested that there was a correlation between finding the echogenic focus on an ultrasound and the baby having a genetic disorder. Once they saw the white spots, they then looked for other markers on the babies, Baby B had no other markers but with the echogenic focus, her chance of having Down syndrome went from 1/760 (based on my age) to 1/420.

Okay I can live with that, I thought… but what about our other little girl. “And Baby A?” we asked…

Baby A had two other markers he told us. Her head to femur (upper leg bone) ratio as well as head to humerus (upper arm bone) was low. With the echogenic focus and these two other markers, her chance of having Down syndrome went up to 1/55.

I stared back at him in shock. Are you serious? We just had this incredible experience of watching our babies interact with one another in the womb, we just learned that we are having two little beautiful girls and you are going to drop this on us? Totally not fair. I don't even want to hear it!

I pushed the emotional part of me down as far as I could which only left room for the logical to emerge. I bombarded him with questions, trying to make sense of what he was telling us. The only thing was that I had a hard time of listening to a word he was saying. I tried my hardest, but my mind was racing and the truth is, I really didn’t want to hear what he was saying.

The next thing I realized, we had been swept into another office and were now sitting across from a Genetic Counselor listening to her spout out facts, medical terminology and numbers. We kept asking questions, trying to make sense of it all.

What does this mean? Does Baby A have Down syndrome? There's a 1 in 55 chance she does. Is that high? It's a 1 in 55 chance. Well, that's like 2% right? Yes. Could it be a false positive? It's a 1 in 55 chance, which is not 100 percent positive.

We had previously declined to take the 18 week blood test (that tested for Downs, Spinal Bifida and a few other genetic disorders) for fear of this very thing. If it was only going to tell us what our babies' risks were and not give us a concrete answer, we didn't want to know. Why put yourself through that worry during your pregnancy? But here we were anyway. Worrying away.

The only way to know for sure, she told us, is to have an amniocentesis (a process where they draw fluid from the amnitic sac and test the babies' DNA for genetic abnormalities). This test would give us a concrete answer, but guess what? There was a 1 in 200 (or so) risk of miscarriage following the test. More numbers...

This is not the way this appointment was supposed to go! This is not the way I had planned my pregnancy to be! We wanted as little medical involvement as possible and now it seemed like we couldn't get away from it!

She was completely factual and rational and I resented her for it. I needed someone to hold me and tell me it was going to be alright. I needed to get out of that office.

Damon and I quickly wrapped up the visit saying we needed to discuss our options and would call her to let her know what we decided.


  1. I know what you mean about the genetic counselors attitude. They are so matter of fact with something so personal to you and Damon. I don't know how you can write such beautiful blogs with this hanging over you. I have no words of wisdom here. Will knowing the outcome of the amnio change anything? It could make the next 20 weeks 'worry' free as you will know the facts. Will it change how you love your babies? Will knowing the facts change how you face parenting? The medical people are covering all the bases letting you know exactly what they see but remember, they don't know what you feel. You have a 98% chance that things are going to be fine. And in this life, all we can do is hang on to the positive and that is that they are healthy and loved. I will pray everyday for you and Damon and those widdle girls. All my love to you both.

  2. Sweetheart, I'm sorry that you're having to deal with this small possibility. However, I can say with confidence that you and Damon will have two amazing children, and that whatever will be ok.

  3. Jenny,
    Hang in there. It will get better. I went through this last year with my single. I had a 2% chance on the screens. Didn't do the amnio for many reasons. Don't feel guilty if you really want to know. Most certainly keep your head up and enjoy these little blessings. I cried for a couple of weeks, then was fine. If you want to learn more about Down syndrome may I suggest the Down Syndrome of Cincinnati website.

  4. HI, I just found your blog and I am a mother of 3.. one whom has down syndrome. We didnt know she had DS until after she was born. It didnt matter one way or the other so we didn't have any testing done like you. We would be happy no matter what. Maybe that is something you need to ask yourselves when making your next deision. I Know its got to be so hard to make... but, will it make a difference either way? No matter what the outcome will be you will be truly blessed. Our little one has given us so much joy, I cant even describe it. You can always read my blog and see for yourself!

    I wish you all the best!! If you ever need questions answered or just need to talk you can always email me.. hugs!

  5. Please please do not fear!!!!! I am a mother of a Beautiful baby boy with Down syndrome who is 4 now. He is the light of all us!!! I am Retired News Reporter ,my husband steven and i went through hell with the genectic people! DO NOT LET THEM SCARE YOU!!!!!!!!!!! Your babies are going to be wonderful full of love and if your child has down syndrome please embrace with joy because they are very, very special loving kind beings!!! I was 35 and scared but now i look back and am so thankful for him!!! My heart is so full of the love this childs gives our community and family!! Please do not fear E(embrace) how lucky you are going to be! I am so happy for you that a higher spirit has given you these 2 Blessings!!!! He had open-heart surgery and they repaired his heart. Do not fear!! Please my frine your life will be sooooooooooooo Beautifull because of them. Congratulations- nicole

  6. Hi ! Just another Mommy in the Blogosphere. If there is anything I can say it's that no matter the outcome there are many many wonderful families, moms, bloggers, and friends in the DS community that are a wonderful Support to lean on. Amy and I saw your blog through this Community and I just wanted to let you know that if you have any questions or worries or you want to talk about anything for any reason please feel free to email me. jesstool @ hotmail

    My hubby and I have a wonderful son named Hunter who has DS and We chose NOT to have an amnio for personal reasons as well. No need risking the baby for false positives or false negatives. Though we were NOT expecting hunter to have DS. It was very much a surprise.

    Come visit us at our blog Http://

    As I said, there is so much support and just the most amazing community of people out there who know just how you are feeling right now.. And Everyone of them is Totally willing to talk :D !~~

  7. Jenny, I have six children and my sixth child was diagnosed with Ds after she was born. A complete shock to us, and I felt very similar to how you felt while they were telling you at your sonogram. However, two years have passed and Gabriella is the most beautiful little girl. I have been completely and utterly blessed. Whatever the outcome your babies will be your babies and you will love them with all your heart. If you'd like come by and visit my blog.

  8. I'd love to share my favorite quote with you:

    Before you were conceived I wanted you.
    Before you were born I loved you.
    Before you were here an hour I would die for you.
    This is the miracle of love.
    ~Maureen Hawkins

    I choke up every time I really read it. My son was not diagnosed in utero, but for many reasons I wish he would have been. The number one reason being that his beginnings would have been so much easier had they known. He is healthy as a horse now, thankfully! If they already suspect one of your babies may have DS then you will be monitored more closely than I was, so you are ahead of the game. I had to laugh when you wrote about Baby A kicking the crud out of Baby B...that is spunk for sure! I also always wished I had a bossy sister for Ben as he grew up. I wonder who will be your bossy one...?

    I know...KNOW it is scary. The unknown always is. There is a whole world out here that already loves your babies. Take comfort in that.

  9. I also forgot to post that my third child, our other little boy, had the echogenic focus as well. All was fine with him and he came out fighting. :)

  10. Either way it turns out, you will still have two beautiful little girls, and you will love them and they will love you. And it is going to be alright.

  11. Hello there. I hope that you are feeling the movement of your baby girls and enjoying their miracle of life. While a "possible" diagnosis of having a baby with Down syndrome is incredibly emotional, please do not forget that this baby is your baby first no matter what.

    Do not allow the doctors and geneticist plague your joys with medical jargan and fear facts. Go with your heart and screen as you "need". But know that when the babies arrive they will both cry, they will both need diaper changes, they will both need LOTS of love, but most of all they are both yours to cherish and enjoy life with as you evolve into the people and parents that you are intended to be.

    Be still value these lives as they will enrich you in ways that you didn't know possible.

    Being a mother to my beautiful children both with and without Down syndrome has been my greatest joy in life. But honestly being a mother to my daughter who just happens to have Down syndrome and catapolted my "true" life and enriched it in so many unbelievable ways.

    I say if Baby A arrives with Down syndrome, ride the roller-coaster of life, knowing that first and foremost she is your baby, second she just happens to have Down syndrome and has her unique needs just like any other child will have theirs. You will be challenged to learn more about certain things, but knowledge is power. And from reading through your blog, you seem to be MORE than capable of stepping up to this challenge.

  12. Just saying hello also. Found your blog through a link from a friend in the Down syndrome community.

    We have twin boys who will be 5 in December. Baby "B" was diagnosed at birth with Down syndrome. We had a bajillion ultrasounds and there were no markers ever that caused us to even speculate about this possibility.

    It is frightening news, to say the least, but we have found that the reality of raising a child with Down syndrome is much different than we anticipated. He is just one of our kids. Down syndrome is a small part of the picture in day-to-day life.

    Just wanted to send you some encouragement and good wishes that all goes well for you and your growing family!

  13. I was in your shoes back in December 08' when I got my results back from my afp test- 1 in 10 for DS- much higher than your odds. We decided to do the amnio after finding 2 markers- a heart defect(hard marker) (not the same as the one they are seeing on your babies) and shorter limbs for gestational age (a soft marker by the way). The amnio was not bad and we got FISH results back in 2 days. Our little boy does have Down syndrome and was born in May. He had open heart surgery just last week and is doing great. He is absolutely adorable if I do say so myself:) and his sisters are totally in love with him. I know this is a scary time with a lot to think about. Just to add my feelings on the amnio-I am so glad I knew because I was able to prepare and his birth was joyous-everyone was expecting it and was not shocked or saddened. He was welcomed into the world just as he was the second he arrived. Your babies could be totally fine but if one of them does have DS, please know there is so much support just through the blogosphere that has helped me tremendously. Best wishes to you and your family!

  14. Congratulations!! I have a little boy with Down syndrome and he's so awesome that I went ahead and had another baby after him not caring if the baby would have that extra chromosome or not. Now I have three awesome kids. The youngest and oldest don't, but if your baby/ies do, you will discover alove you never knew was possible!

    Check us out on blogger if you'd like: My 3 Ankle Biters

    We r also on facebook and r way more active with daily stuff and photos there. Take care and enjoy those babies.

  15. Hi! I also was led to your blog by a friend in the Ds community. I'm not sure I can even put into words the amount of love and pride I have for my own daughter, who is nearly 4 and has Ds. It was quite a shock at first. My husband was 100% against proceeding with the pregnancy. But, I knew in my heart that it would be ok. My husband welcomed her with open arms and has been wrapped around her finger since the day she was born. She is Daddy's Little Girl. We also have two boys who adore her. (They are another story, lol!) Believe me when I saw that your daughters will light up your life in ways you never imagined. Embrace and enjoy every moment. You have received an amazing gift. :)


  16. been in your shoes, and have a beautiful 11 yr old daughter with DS who is doing amazingly well. I wont say more than please come visit our blog, see what life is like for a kid with DS, it is MUCH different than you expect it to be. Congrats on your babies!!!

  17. Congrats on those twins! WOW! That is a blessing! I have just one little guy who has Down syndrome...I know you can't IMAGINE how in the world I could say this but I wish I had two! I sure didn't when I was first in that SHOCK stage but after seeing the reality of my family and MANY others...I can say I wasted so much time being sad and scared! Please visit my blog if you want more insight! I can't wait to follow your journey!

  18. Many congratulations regarding your twin girls! How splendid! I’m Michelle, just another momma with a blog. We have three kiddos: Nora is 7; Elliot, our cherub with Down syndrome, just turned 3 and Isaac will soon turn 2. We did not learn of Elliot’s chromosomal enhancement until birth – and it took a few hours to determine that markers were present as he was born at 32 weeks gestation. I must say that I was indeed devastated at first, but, as it stands now, I would not change a thing about him. He’s truly a saint and has taught our family more about life and love than I ever thought possible.

    We’ve too dealt with the ‘dear’ geneticist. I became pregnant with Isaac when Elliot was just a few months old. He pushed to kingdom come for the amnio. I refused. Isaac is of a typical chromosomal make up, but it did not matter to us one way or another, for we knew just how perfect and normal a child with Down syndrome actually was.

    I know the words are hard to hear – I know how the ‘matter of fact’ tone hits like a ton of bricks – I know that you just want to smack the doctor(s) – and I know that many doctors (not all, of course, but many) need a lesson in compassion.

    If you’d like to read more about us, you may find our family here: or shoot me a comment on the blog and I’ll send you my email.

    God bless and again, congratulations on the upcoming arrival of your twin baby girls!

  19. OH, and I see you live on an Island in SC...I live in Myrtle Beach! Let me know if there is ANYTHING I can do for ya!


    Please, come visit Brook's world. Down syndrome is not scary. It has to be the best thing that happened to my family. Bless you and your family. {{{HUGS}} and best wishes!

  21. Hello there,

    I am the referrer to your blog post. I shared it with my facebook network because I know so many sets of twins that have one who has a little bit of something extra by way of that twenty first chromosome aka Down syndrome. I am the mother of many, my littlest child who just turned five in July, also happens to have Down syndrome. I did not find out prior to her birth but knew immediately when I saw her.

    I am the Chapter four author in a book called Gifts: Mothers Reflect on How Children with Down Syndrome have Enriched Their Lives. It is a book full of stories about parents experiences becoming parents of a child with Ds. Details about the book can be found at:

    If you are interested in having a copy please email me at rebecca[dot]phong[at]q[dot]com and I will gladly send one out to you this week. If you have a facebook page please feel free to add me, I have a large amount of friends who are also parents of a child with Ds. I also have a comprehensive list of blogs in my daughter's blogroll.

    Finally, another amazing support system can be found at:

    Since Ds is one of the most common genetic anomolies, estimated at 1 in 733 (or 800 depending on whose running the numbers) it's fairly easy to find support by way of the world wide web. Beyond the web there are also local support groups. If you aren't sure if you have a local group but would like to find out more please let me know. I will be more than happy to locate that information for you.

    Please know that while no one can say that have walked in your specific shoes there are so many who have had similar experiences that can provide that strength, comfort, and reassurance. Even if your not ready to reach out to anyone all of the resources I mention are readily available online and so easy to view. Read, read, read, you will be glad that you did.

    In closing, I'd like to link you to two of my favorite sets of twins:

    Jennifer, mother of three, has two twin boys Avery and Bennett. She is the author of "Roadmap to Holland" it is a book devoted to the process of becoming a mother to twin boys, one who has Ds. Here blog can be found at:

    Beth, mother of many, has two twin boys named Simon and Jude. Her blog is can be found at:

    Congratulations on twins! If and when you find out if one of them has Down syndrome try not to be too hung up on the uncertainties. Don't let others, especially older generations, fill your heads with negativity. Don't allow anyone to tell you what your child may not do. Because honestly, children with Ds have a wide range of strengths and abilities. Those common myths and stereotypes are just that, nothing more than the thoughts of those who have never taken the time to know anything about Ds.

    I can't tell you how thankful I am for my daughter. She has taught our family so much about the real meaning of life, and I'm so glad she is who she is, she is amazing!

  22. good morning.

    I'm to molly kate, and some of the moms i network with sent me your way. Molly is 9 years old...which means that nearly 10 years ago, i was sitting down, trying to digest this same information. KUDOs to you for taking the time to get educated.

    The amnio IS the only way to tell...which, since Molly was a late in life blessing, I opted for it instead of hit & miss blood test. I dont like surprises...just the facts, jack...all the way. Since it does carry a risk, it's a very personal decision, though.

    Should you happen to have a baby with an 'enhanced' chromosome (odds are rare that both will have the duplication, but i do know a mom who beat the odds....Judi, i'll send her along) let me leave you with a few things i tell the newbies!

    First, and foremost CONGRATULATIONS ON THE BABIES!! TWINS!! how exciting!! No matter have to get to the mindset that this birth is something to be celebrated! We can help you get there. Only the 21st chromosome is affected in a baby with DS, all the rest are you and him.

    Second. It's ok to be a little afraid...we are always afraid of what we do not know. It is also ok to grieve for the baby you didn't get...take some time and come to terms with that. Then???

    Get ready for the ride of your life! Our babies are beautiful (especially at birth) We are given a few years to get to know them, before you really see anything remarkable...if even then..these babies will just be your babies to snuggle and love.

    Molly did have a heart defect...a VSD, which was monitored and actually closed all on it's own. THAT'S IT! She's a perfectly healthy little girl, whol spends more time at the doc with skinned knees than DS related ailments.

    I put together this little help welcome the new parents into a world of wonder that now? I just couldn't live without...the parents i have met online, IRL and at various meetings...are the best in the world.

    Molly has totally changed the mindset and dynamics of our family, and she changed it for the better. I'm not sure how to describe it...just that i don't think i was a whole person until i had molly.

    I rattle on...these are things you will learn as you go...just don't be too scared. Now? after 10 years? I wouldn't change a hair on her head.



    eileen miller wilson on facebook...come find me and my friends!

  23. First of all, congratulations! And if your baby or baby has Down's Syndrome, congratulations again! Just to let you know, when I found out Max had Down's,(at birth, since I declined ALL testing)I was devastated. My husband needed smelling salts, he collapsed right on the delivery room floor. They gave me the poem, "Welcome to Holland" and I crumpled it up and threw it on the floor.
    And let me tell you....all that lasted about 3 weeks. Yes, 3 weeks. We laugh about it now. Because this little kid has brought more joy,happiness,innocence and laughter to me,our family and the world than I could ever imagine. You are truly blessed. Keep your chin up and don't hesitate to contact any of us moms! Whether it be questions,concerns or just to vent or cry.
    Lots of hugs for you,

  24. Hi - My friend Eileen sent me a link to your post. (((((Hugs))))). I'm Judi, mom to Sam and Patrick, identical twins boys who both happen to have "a little something extra" (Down syndrome). First off, I had ultrasounds out the wazoo once they found out I was having twins and not once were any markers detected. My boys were born almost 14 weeks early and we didn't get their dx of DS until they were a month old, but that's a story for another day :)

    Seriously, a lot of people have "markers" on their ultrasounds and they turn out to be nothing.

    However, I wanted to let you know that I moderate a multiples group for down syndrome. We have families with identicals (like me), fraternal twins where only one has DS, and families with two or more kids with DS either through birth or adoption. Over the years we have had many expectant parents join our group for support when they've had news similar to yours. You can find us at: and follow the instructions to join. We'd love to help support you through your journey.
    You can also find me on facebook: Judi Reichardt Grossman. (((((Hugs))))) No matter what happens, It will be ok. :)

  25. Hi, I'm a little late in posting, but that's me. A little behind the times. LOL. I just wanted to chime in, we DID opt for the amnio, so we knew in advance, we were going to be getting someone with a little something extra. He's absolutely my glue, and I didnt WANT another child, let alone one with special needs... well, here we are, almost 2 years into this new direction, and I can say with certainty, I'm so in love with this little mess maker, I can't imagine there was ever a time I was happier. Feel free to contact me if you would like, I'm Kathy Barr on facebook, or you can email me,, or contact me thru blogspot. Best of luck and congratulations, either way. :o)

  26. Wow kudos to the facebook community. I had a much easier time dealing with my emotions after I discovered the Down Syndrome network on facebook. The unknown is so scary. I must say my life is much enhanced by my little one and my new friends. Feel free to add me too on facebook. (I am way too busy to keep up my blog right now but I am an avid facebooker).

    Kati Arthur

  27. I hope this will encourage you.

  28. Hi- I'm a little late in posting this- sorry! I just wanted to encourage you to stay positive! At our 20 week ultrasound they detected 2 EIF's on our little boy's heart.
    I was so upset when I left the doctor's office. After two more ultrasounds and declining the amnio- I think I am finally at peace and have allowed my anxiety to pass. I know no matter what happens that my husband and I will love this baby and that everything will be okay. I do belong to a private group on Facebook. This group consists of women who all have had EIF's appear on their baby's ultrasounds. It's encouraging to talk with them and hear about their experiences. Please let me know if you are interested.
    P.S. I am due in December as well :)

  29. Both of your girls will bring you a lifetime full of love!

    Our Level II ultrasound with our daughter (Bridget, our fifth child) showed an EIF on her heart and no other markers for Ds. We chose not to have any genetic testing.

    Bridget does have Down syndrome, which we discovered officially the day she was born (although I "knew" in my heart way before that). Today, she is a happy, healthy, and expressive three-year-old who is thriving, by anyone's standards. She's hilarious, and sweet and sassy. She sparkles.

    I am happy to answer any questions you may have! You can find me on facebook: Lisa Peele, or find us at: