Genetic Testing, Down Syndrome, and the Unfolding Drama.

25 Jun

Heads up warning, this isn’t a beauty post – in case the title didn’t clue you in.

If you haven’t been following my reproductive misadventures and want to catch up, here are a couple blog posts:
Disaster Strikes
Good News

To summarize: We got pregnant, we lost the baby (and one of my Fallopian tubes in the process) in a big way, and then we found out we can still conceive because my other tube is a-okay. It almost seemed like this story was going to have a simple happy ending, as I am now 17 weeks pregnant, but nothing in life is simple, including this.

SO my husband was very, very insistent we get genetic testing for the baby – the non-invasive quad screen test. I really did not want to. His attitude was there’s probably nothing wrong, and if there is, knowing will give us time to prepare. My attitude was. these tests are not super accurate, and on the off-chance it shows there IS something wrong, we are going to have to go ahead and have an amniocentesis, because I am not going to spend the next five months of my pregnancy crying and wondering. The trouble with amnio is there is a chance it could harm the baby or end the pregnancy, so it’s a more risky procedure. Additionally, we aren’t planning to terminate the pregnancy regardless (although I have been waffling on this in my emotional upheaval the last few days), so that means five months of knowing the baby inside me is disabled if we had the amnio and it comes back positive.

I finally gave in to my husband and had the bloodwork and genetic ultrasound done. The first bloodwork and ultrasound came back normal, and I stupidly, stupidly let myself believe that meant everything was okay – this was a month or so ago. I had a regular prenatal appointment this past Tuesday where they took more blood for the cystic fibrosis test – I didn’t realize it was also for the second part of the genetic testing. Funny enough, they had a really, really hard time getting my blood out. I have tiny veins buried far under the surface – even experienced phlebotomists sometimes have a hard time with them. In this case, my midwife first tried my arm, then my hand, before calling in another doctor to help. I should have taken this as a sign.

Friday afternoon I got a voicemail message from my midwife’s partner stating that my blood results had come back, and I had tested positive for a 1:12 risk that my baby has Down syndrome. I listened to this message sitting in a nail salon after getting a mani pedi, and promptly began silently crying, humiliating myself in front of the nail technicians and all the other patrons. Awesome. I tried calling, texting, and emailing my husband, and could not get a response. I finally got myself under control enough to pay the bill and make it to my car, where I began hopelessly wailing. My midwife’s partner said in the voicemail that the next step was to contact a genetic counselor, who would discuss our options with us. I called the genetic counselor immediately. The first woman hung up on me. It really seemed like life was punching me in the face at this point. Oh, I haven’t even mentioned the best part – it was POURING rain. Like a hurricane. So here I am in my car, in a parking lot, sobbing uncontrollably, unable to reach my husband, rain pouring down – what a fiasco.

I finally reached someone at the perinatal unit and she was super nice and sympathetic. Unfortunately, she could not find my paperwork. In a helpful manner unlike many I have encountered in the medical world, she actually offered to call my midwife and find out where the paperwork was, then call me back. In a matter of minutes she did this, and told me that they would be faxing the paperwork over shortly and I should call back Monday to make my appointment, because a genetic counselor would need to look at the paperwork first before they could schedule me – this was around 1pm Friday.

I finally got to talk to my husband and he offered to call and try to get more information from the midwife. He also said he was going to come straight home.

After the call from my husband, my midwife’s partner called me back. She had no other real information for me. I managed to get myself together enough to drive and made it home, where I continued crying and cursing myself for being talked into doing something I knew was only going to bring bad news. I was angry not just at myself, but at God (who I’ve had a pretty tenuous relationship with anyhow since my cat, my mother-in-law, and my father all died in a 6-month period), my midwife, my husband, and the baby. I was screaming in the car in rage and fear and helplessness. It’s actually lucky I made it home okay, driving that way in such awful weather.

My husband got home within an hour and we cried together and he apologized profusely for making me get the testing, repeating again and again that he was wrong. I am angry with him, I’m not going to lie, but it’s not his fault and I can’t hold it against him. He’s optimistic and I am sure he never imagined we’d actually get bad news.

At this point, as one does, I began reading shit on the internet. I would say that 9 times out of 10 – nay, 99 times out of 100 – this is a terrible idea. Typically it just freaks you out more and brings up crazy possibilities you weren’t even aware of. In this case, however, it turned out to be very soothing. Of the anecdotes I read through online, almost all of them were women who, like me, had been told they were at increased risk for having a Downs baby and ended up having a healthy baby. Some women said their “risk” ratios were as high as 1:4, 1:3, and even 1:2 – yet they’d delivered healthy, unaffected babies. Many women railed against the quad screen test, calling it inaccurate and unnecessary. I read one article that stated that of the women who test positive for “increased risk,” NINETY PERCENT end up delivering healthy, unaffected babies. In addition, if you do the math, 1:12 comes out to about 8% – which means I have a 92% chance of having a healthy baby. All this information didn’t ease my mind completely or erase my worries, but it did help me get through the weekend.

(I realize at this point I am rambling a bit, kind of scattered, and probably overusing certain words and phrases, but this isn’t an essay, it’s a blog post, and I’m a bit scattered myself. So, apologies.)

This morning – Monday – I woke up at 7 because my hens were making a hell of a racket. Of course: I instantly thought, “Call the genetic counselor,” so there was no going back to sleep for me. I tried to call and got the voicemail stating that they opened at 8. I called at 8:05, 8:12, 8:16, 8:21, and 8:28, and each time got the voicemail stating that they were closed and opened at 8. Let me interject here and say AGGGHHHHH! This is NOT the first time this has happened to me – if you open at 8, open at 8! Good grief! Finally at 8:38 I got a person and after holding forever while she searched for my paperwork, found out that the genetic counselors STILL needed to review my case before they could make me an appointment. WTF. I realize this is their job, and they do this every day, but this is my LIFE. Have some empathy!

I asked WHEN they would call me back and was told, “sometime this morning.” At this point my husband awoke and came downstairs. I got off the phone and he asked me the details and I told him and then broke down again. I spent about fifteen minutes crying, calmed down, took a shower, and then lost it again, and cried for another half an hour. The worst part of this is I KNOW all this stress and sadness and worrying isn’t good for the baby, but I can’t stop it. I have never felt so helpless and confused in my life. I have no idea what to do, and right now there’s not much I CAN do except wait, which is totally counterintuitive.

I finally called my midwife, and she was sympathetic and understanding. She called the perinatal unit and told them to hurry up and call me back already, and they said they would do so before noon. It’s not quite 11am right now and I am just watching the minutes tick tick tick away and wondering what is next.

That’s the story as it stands. Generally I love being the center of attention – I danced burlesque, for God’s sake – and enjoy having a unique, interesting story to tell. In this case, however, I’d give pretty much everything I have to have a boring, no-drama, standard pregnancy. But I guess it’s too late for that now.

5 Responses to “Genetic Testing, Down Syndrome, and the Unfolding Drama.”

  1. Wendy June 25, 2012 at 11:22 am #

    Sending prayers your way. And hugs. Lots and lots of hugs.

    • katej78 June 25, 2012 at 11:36 am #

      Thank you. ❤ Both are much appreciated.

  2. Liz June 25, 2012 at 1:05 pm #

    Kate, I just know everything is going to be fine. With our last pregnancy we chose not to get the genetic screening because I know I would have had the same response as you if it came back with any sort of posative result. It is scary to be told that there is the chance something is wrong with the baby, but hold on to that knowledge that the chance is slight. 8% is not great and my understanding is that that number could still be wrong. My fingers are crossed for you that you are able to find some reassurance that the baby is fine.

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  1. If you want to make God laugh, tell him your plans. | Holy Crap, I'm Making a Person - November 12, 2012

    […] Genetic testing […]

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