Upsetting Screening Results

They told my mom I HAD down syndrome, and asked if she wanted to abort on the spot.  Obviously she didn't and I did not have it.  You never know.  The reason they want to do the amino, even if it wouldn't change your thoughts on continuing with the pregnancy, DS children tend to have cardiac problems that can be dangerous at birth.  So in that sense it is very helpful to know.  Good luck to you.

Thank you for your post.  It is nice to hear about false positives!
Jenn

Before reading my answer, know that I am speaking from someone who has been there and as a medical professional.  I am a physical therapist that spent years working with kids alone, so I have a great deal of clinical experience with Down's kids.  Okay, here's my opinion/story:  My results came back greatly increased for Downs.  I had the Level 2 ultrasound, and it can't offer 100% assurance, BUT all studies show that the Level 2 ultrasound can generally pick up 90% of those with Downs, but most babies have certain physical characteristics that can be seen on ultrasound.  My blood tests looked bad, but the specialist I saw told me that after he did my ultrasound, he was 95% sure our baby was fine.  He told me that the only 100% sure method was amnio, but he didn't recommend it.  His words were "If it is not going to change your decision on whether or not to keep the pregnancy, I wouldn't do it.  The risks outweigh the benefits" , so I didn't have the amnio.   My last comment is thigs: amnio CANNOT show the "degree" of Downs.  There really arent degrees.  Most Downs kids are very functional, but how quickly they progress through their motor milestones (crawling, walking, etc) cannot be told ahead of time, and often depends on how much therapy the child gets and how hard the parent works to implement those things at home. 

Thanks Leslie,

I appreciate your observations.  I know that we will definately have the Level 2 ultrasound and after speaking to the Genetics Counselor, decide on next steps.  As an elementary school principal, I have seen both ends of the DS spectrum and can appreciate how severely each case can differ from another.  Just like "typicals" the needs of a DS child is as unique as their fingerprints. 

The risk of amnio is what stresses me out more than anything.  It is funny, I didn't think twice about the risks to me when I had my RNY or my Breast Reduction - I quickly saw that the odds were in my favour and went for them both.  It is so different when it comes to a baby. So different.  I am so used to being wraaped up in "me."  I guess I am beginning to understand what it feels like to be a parent...

Thanks again,

Jenn

When I was pregnant with my daughter (she will be 7 next month) I was at work and my OB called me about a day after my 18 week U/S and bluntly told me that the baby had 2 markers for downs..a short femur and thickened nuclear fold in her neck..he went on to say that the baby MOST likely had downs, and I had 3 choices...a medical abortion, an amnio or do nothing. I hung the phone up, sobbing (mind you again I was at work). So I decided on the amnio simply to know what we were going to deal with, plus my husband and I were both CF carrier. So we are in the amnio and my husband asks this OB what he thougt and he replies, (She has a greater risk of a miscarriage during this amnio than having a downs baby...) I thought my husband was going to jumo the gurney and choke this jerk. So we change OB's immediately and wiat and wiat. 2 weeks later we find out nothing was wrong. Now the CF came out fine but that is another story as they "forgot" to test for it....so we thought the rest of the preg she was fine and low and behold, she DOES have CF..anyways..so I like you did the amnio simply to know what we were in for and it wouldn't have changed a thing...but at least this shows you they don't know everything!! Keep us posted!

Thank you so much for sharing your story.  It is true, they don't know everything.  What an awful way of telling you about the initial results!  OMG.  My OB was great, but honest.  Urgh. 

How is your daughter doing with her CF?

Jenn

I also just wanted to share this with you.  It is very meaningful to me.  My last semester of being an undergrad I was 5 months pregnant.  On the day of the final, one of my psych professors gave this to me.  Maybe it will give you some comfort, whether or not your child has DS, it has helped me through my daughters other medical problems.

When you are going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guidebooks and make your wonderful plans. The Coliseum, Michelangelo’s David, a gondola ride 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 has 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 guidebooks. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It is 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; Holland has tulips; Holland even has Rembrandts.

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."

The pain of that will never ever go away, because the loss of that dream is a 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.

Wow.  Thank you for sharing that story.  It is beautiful  I am so touched by it and very moved by it.  I am going to save it, share it, and read it often.

Thank you, thank you, thank you.

Jenn

not a problem. like I said, it got me through some less serious but still challenging issues with my daughter when she was a newborn. 

I am so glad that she is growing up so well!  A real miracle!  Congrats - two beautiful daughters!  You are blessed.

I will post after our meeting with the Genetics Counsellor tomorrow.

J