NT Screening, Take 2

Week 13

The only good thing about my first appointment was that the specialist wasn't very concerned.  John and I decided if she wasn't worried, we weren't going to worry.  At least not obsessively.  I had told my bosses at work so they were aware of why I was missing work on a weekly basis and we got the neighborhood under control.  Now it was a waiting game.

The other good thing was John was around to come with me to the second appointment.  We went back and were in to the sonographer almost immediately.  Will Peanut cooperate this week?



13 weeks, just chillin'

High five, dude!

That would be a no.  Not only would Peanut not cooperate, this child doesn't sit still.  It's pretty amazing to watch a tiny human doing somersaults.

Again, the specialist came in and tried to get my little fetus to cooperate.  No such luck.  But we did learn a few very reassuring things. 

1. The specialist said she has done enough nuchal translucency screenings that she can usually tell if there is an issue even without the measurement.  In that case, even before the bloodwork comes back she recommends the parents to schedule chorionic villus testing (an invasive diagnostic test that can be done before an amniocentesis).  She thought Baby K looked normal and did NOT recommend any invasive testing. (Whew!)
2. She explained the reason that an enlarge/abnormal yolk sac indicates chromosomal defect when noticed between weeks 8-10 is that at that stage, the yolk sac is larger than the embryo and it's the chromosomal defect that causes the yolk sac to grow and not the embryo, eventually leading to miscarriage or serious defect.  My abnormality was noticed at week 11, at which time the embryo was already larger than the yolk sac, and in all of the sonograms the fetal development was tracking perfectly with my due date, so she didn't see any reason for concern.  For reference, the yolk sac is the embryo's primary source of nourishment until around week 12 when the placenta becomes attached.  Once the placenta attaches, the yolk sac dissipates completely.  This is also about the same time the embryo is officially considered a fetus.  That is also why week 12 is when it's considered "safe" to tell the whole world you're pregnant.

I almost started to cry again, this time with tears of relief.  The nurse advised us of our last option, the blood test after 15 weeks, and we agreed.  We didn't go through all of this for no results, so I gave a sample of blood before we left with a card to come back in 2-3 weeks for blood draw number 2.

We were both relieved.  And we both decided after this roller coaster that we were not going to worry about it.  There are no guarantees, but we both agreed there is no reason for us to stress out about something we have no control over.  If the specialist wasn't worried, then we wouldn't worry either.

Still No Answers

Week 12

Monday I was worthless.  I spent a few hours again on the phone, still trying to get the insurance coding from my first ultrasound straightened.  I will give Blue Cross Blue Shield of Kansas City recognition for their fantastic customer service.  You don't hear that very often about an insurance company.

John had to travel for work, so he was out of town for my appointment Tuesday morning.  It was hard to sit in the waiting room with all of the other hugely-pregnant women.  I spent most of the wait examining my fingernails.

When I was finally called back, I was taken to the genetic counselor first.  She is the contact person for all patients, which makes sense but I really didn't care about a single thing she was saying.  If you listen to genetic counselors, everyone should be tested for everything under the sun.  I must have been giving her a pretty good "What the fuck?" look because she stopped partway into her spiel.

"Did you have a question on something?"

Me: "The only reason I'm here is because of the abnormal results on my ultrasound from last week."

GC: "Oh, I don't think we have your sonogram on file."

Me (already agitated and getting more so by the minute): "No, you have them.  My doctor's office sent them over twice and I double checked to make sure they went with my file."

GC:  "Let me see."

She went to her computer and pulled up my file where, lo and behold, there were my sonograms.  She muttered to herself and wrote something down.

GC: "Well, it shows you have an enlarged and abnormally shaped yolk sac.  I've never seen that before and this is outside my area of expertise so I'm uncomfortable commenting on your risks other than it increases your risk for defect."

Now, I know I was slightly irrational and completely stressed out, but it seriously took every ounce of my self control not to cry and not to jump across the table and punch this women.  At that point, she was just wasting my time when all I wanted was to do the stupid nuchal transluceny screening.  She blathered on, pretty much oblivious to me.

For the NT screening, they take a blood sample from mom and using ultrasound images from between 10-12 weeks, they can compare measurements of skin and fluid on the fetus and relate that to hormones and proteins in mom's blood and that is how they determine likelihood of chromosomal defect.  At least that is my understanding. 

I finally was called in for the ultrasound, the specialist would be in later.  The sonographer started taking images and while I was thrilled to be able to see the Peanut again, I was nervous as hell.  For the screening image, they need the fetus in a very specific position to get the correct measurements.  Peanut was not cooperating.

The sonographer had me cough, got to the bathroom, and jump up and down to try to get the Peanut into the right position.  No such luck.  I shouldn't be surprised - no child of mine will do anything that he/she doesn't want to do. 

I was almost in tears.  No image meant no answers.  The specialist came in and started looking herself.  The good news: she thought everything looked good.  The bad news: no results today.  But I had 2 options.  Option 1) Try the sonogram again next week.  Option 2) Take a blood sample today and then again after 15 weeks 2 days.  They accuracy was about the same for each option but the blood test only obviously takes a lot longer to get results.

I went with Option 1.  Another week until we could try again. 

12 weeks and completely stubborn.

The Longest Weekend

Week 11, Day 6

There are some definite benefits to being an engineer. 1) An affinity and talent for performing research.  2) A logical approach to just about everything. When stressed out, it is definitely easier for me to be an engineer first and respond emotionally later.

After being told my 11 week sonogram showed an enlarged and abnormally shaped yolk sac, I did some research.  I found three research articles in British and American medical journals, which are good sources of information, as far as the internet goes.  The statistics were depressing - 80-100% correlation between an abnormal yolk sac and an abnormal outcome (i.e. miscarriage and chromosomal defect).  But all of the statistics were for yolk sacs measured between weeks 6-8.  My results were from week 11.  That doesn't help.

One of the articles made the connection that if the measurements were more than one standard deviation away from normal, then the risk for miscarriage and chromosomal defect increases.  John and I took grad school approach: where did they screw up the numbers?  How big was the sample size?  What was one standard deviation?  What was their reliability coefficient?  Was their sample pool skewed to begin with?  Ultrasounds at 6-8 weeks are not standard, so maybe they're looking at a high-risk population and the sample is not representative of the general population?

Even with the questions, there wasn't any relief.  John and I were no comfort to each other; we were both scared and thinking the same terrible thoughts.  To make things worse, the neighbor John had spilled the beans to had assumed we were telling everyone and told the other neighbors.  I made John go and do damage control and tell everyone to keep their mouths shut.  I spent the weekend basically in hiding.  I knew the neighbors all knew and I just couldn't face them.  I couldn't even wave or make eye contact.  Any question or comment would put me in tears.  I felt them staring when I stepped outside.

I was still planning on slowly jogging a half marathon and had an 11 mile training run planned for the weekend.  I thought maybe that would help relieve some stress.  Wrong.  With nothing to do but think, I could only think about the worst possible outcome.  Every mile or so I'd start hyperventilating.  I threw in the towel at 6 miles and decided I really needed to talk to someone.

The only person I had told was Kelly, and she was out of town that weekend.  I didn't want to bother her when travelling.  I couldn't talk to the neighbors so that meant telling someone else I was pregnant.  The first person I called?  My mom, of course.

Except Mom didn't answer.  I called her cell.  No answer.  I called the house again and left a message.  I called my brother to see if Mom and Dad were out on the farm.  He said they were travelling to northern WI for the weekend.  I tried Mom's cell again and left a message.  I was working myself into a panic with every unanswered call.

OK, Mom is out.  Next I tried my friend Jenn.  She's a mom and one of the few people who knew we were thinking about having kids.  She also lives in Hawaii.  I assumed even with the time change she'd be awake since she has an 18 mo old.  The phone rang and rang and then "Your call cannot be completed as dialed.  Please try again."  Argh!!

Alright, I still don't want to bother Kelly, so I'll try my cousin Becky.  We've always been close and I hadn't planned on telling her just yet, but I need to talk to someone.  I called.  No answer, just voicemail.

I gave up.  I was sitting on a park bench at 9 am, crying into my sunglasses.  Sobbing, really.  I felt so alone and so helpless.  I sat in the park long enough to regain some composure and drive myself home.

John and I kept busy all weekend and didn't talk about it.  Later, my mom got the voicemail and called me back.

"Well," I said "I have good news and I have bad news.  The good news is I'm pregnant and the bad news is..."
I couldn't even finish the sentence before breaking into tears.  My poor mom.  I can only imagine how much it broke her heart.  I tried to explain everything and I couldn't tell you what all was said.  But no matter how old you are, talking to your mom when you're upset makes things a little more bearable.  I felt marginally better.

I wish I could adequately describe how helpless we both felt.  But I am not eloquent enough to put into words just how my heart broke at the thought we might lose the Peanut.  I was amazed at how attached I already was to something the size of a AA battery.  Maybe I will make a good mom after all.

Leave of Absence

I didn't want this to turn into a Mommy-blog but other than the Tiny Human, there's not a whole lot going on.  I promise after the Tiny Human is born that this will return to a training blog as I try to make a return to athletic endeavors.  But between now and Nov. 12, I just don't have a whole lot of training-related things to talk about.

Instead, I'll catch you up on the Peanut.  But I need to go back a few weeks first.

Week 11

I had my first appointment with my OB's office that Wednesday.  It wasn't with my doc, it was with their OB coordinator, so a pretty generic appointment.  Step on the scale, pee in a cup, give some blood, talk to the nurse, and since I was past 9 weeks, we were going to listen to the heartbeat.  Cool.

At the end of the appt, the nurse pulls out the doppler and tries to find the heartbeat.  No luck.  Ok, let's not panic, they're pretty little at this stage.  The nurse ordered an ultrasound since she couldn't find any heart sounds and they wanted to make sure everything was OK.  I was able to get in later in the day and called John.  We went in and thankfully, everything was OK.  We got to see the little bugger, hear the heartbeat, see some in-utero gymnastics, get some pictures and go home.

11 weeks, 2 days heart rate of 172 and about 2 inches long.

This whole pregnancy thing was feeling a little more real now that we had photographic evidence that I was, in fact, pregnant.  John was so excited he may have had a few too many beers that night and told one of the neighbors.  Up until this point, Kelly was the only one we had told.  The next day I told my boss at work the good news.

Later that Thursday afternoon, I got a phone call from my OB.

OB:  "I saw your sonogram and we found an abnormality in the yolk sac."

Me:  "I'm sure that's not a big deal, right?"  I was still on the saw-my-baby-for-the-first-time high.

OB:  "Well, it could be nothing.  But there is some research that shows this is an indication for increased risk of miscarriage or other defects.  I wanted to talk to you about first trimester screening."

That was like a blow to the head.  I wasn't quite absorbing all of the information as we talked but it slowly sunk in that suddenly there might be cause for concern.

Me:  "We talked about it but I'm not sure if it's covered by my insurance so we weren't going to have any screening done.  Aren't the second trimester testing options just as accurate?"

OB:  "They are about the same accuracy but you will know much sooner with the first trimester screening.  Even if it's not covered but is applied toward your deductible, I think it would be worthwhile for you to see the specialist.  She might just say it's nothing, but it would be good information for you to have."

Now things had sunken in.  I was expecting, "it's nothing for you to worry about" and instead I was highly recommended to see a high-risk maternity specialist.  What the hell just happened?  I asked a few questions about being referred and other logistics.  I wanted to talk to John.  Maybe I was reading too much into this.  Genetic screening can be expensive and the best answer I got from my insurance company was it would be covered if it was "medically necessary."  But no one could tell me what was considered medically necessary and what was voluntary and it was up to the specialist to decide. 

I called John immediately.  He didn't even hesitate.  Do the screening.  Who cares if it's $1000, just do the screening.  I called my doctor's office back the next day and told them I wanted to do the nuchal translucency screening.  They take it from there.  It's all very overwhelming - my doc's office calls and schedules with the specialist group.  You don't have a say in which doctor you see, which location they see you at, or when the appt is. 

They called back in about an hour - next Tuesday, 9am, ShawneesMission Hospital, Dr. Wickstrom.  Drink lots of water before you come in.  That's it.

At the same time, through dealing with my insurance company on the phone, I realized there was an error in the billing of my first sonogram.  The nurse coded it as routine, instead of medically necessary (I have now learned the importance of the distinction) and so I was also on the phone repeatedly with my insurance company, my doctor's office billing dept, and the diagnostic imaging company who did the sonogram trying to get it straightened out, besides the issue with my abnormally shaped and sized yolk sac.  I'm glad I told my boss what was going on because I was turning into a stress-crazed woman, locked in the conference room glued to the phone.  By the end of the day on Friday, it was all I could do to keep my composure.  After the final call scheduling with the specialist, I had to sit in the conference room to keep myself from crying.  Since the conference room is all glass, I was sure my co-workers thought I was crazy.

At the end of the day, I did the stupidest thing I could possibly have done.  I went online and searched "abnormal yolk sac".  I knew I shouldn't be doing it while I was typing it into the search engine.  But there was surprisingly little information.  No wikipedia page, nothing on the Mayo Clinic web page, just several mommy-blogs and a few research articles.  I opened some of the journal articles and was met with words like "miscarriage" "chromosomal defect" "abnormal outcome" and "embryonic demise".  The current research is on two different abnormalities - enlarged yolk sacs and abnormally shaped yolk sacs.  Mine was both.  My stomach turned into a sinking pit that threatened to swallow me whole.

I was the only person left in the office at this point and I think my bosses would forgive me for doing personal research on company time.  I started to cry.  Depending on the study, the chance of miscarriage or chromosomal abnormality for an abnormal yolk sac at 6-8 weeks was between 80-100%.  After reading the abstract and conclusions for 3 different research papers, I closed my computer and headed home, crying most of the way.  That was the start to the worst weekend of my life.