Life after NICU and losing my baby girl

Two appointments later…

Ok, I know I’m a day late on updating everyone. Sorry. This week has been so torturous, I haven’t been sleeping very much at all. Kinda makes you REALLY tired when you can finally relax and let your guard down for a bit. Even if its just a smidge. But I’m getting ahead of everything.

Tuesday. Adam’s 30th birthday. We had a regular OB appointment in Little Falls. Didn’t expect much since she’s not the one we really wanted to talk to about baby’s risk. They updated their system (AGAIN!) and now they can easily share patient files between the two clinics. Believe me, this is AWESOME news. Until you’ve had to have your referrals sent 5 times and your files sent 3 times, you might not get how good it is to have such a system. BUT anyway, the dr did her routine measure, listen, and ask us what we were thinking for delivery options, when we would transfer to St Cloud, who we would go with, and why we turned down the guy she had mentioned with our pregnancy with Bailey (dude, that dr she referred us to was mean, rough, demeaning to me, and treated me like I was incredibly stupid and inexperienced. He didn’t care the difference in our case from a typical, easy peasy, no complications birth. Not someone I would go to at all if I could help it. I won’t even mention him. All I will say is I will deliver all my kids with Stocker because he may be a jerk to the nurses (they really don’t deserve it, but they take it in stride), but he’s SO gentle, real, and incredibly calm. We have to remind him of details that make us different, but he’s not over bearing and doesn’t sugar coat at the same time. When you have had a super rare baby, you don’t take sugar coating anymore. You have seen too much and know that bad does happen to good people.

Everything was looking good with baby, her heartbeat was in the 150s, right where it should be, my fundal height is right on for where it should be, and I’ll be doing my gestational diabetes test next month, at my last appointment with her.

The next few days were far harder to get through. The build up to a trying appointment that could be a HUGE deal is enough to cause you to only get a lone hour of sleep before needing to function again. Feeling the tears as you explain you already did the easy appointment on tuesday, the tough one will be friday.

Late night friday, Adam and I had a talk about what we each wanted to say, how we would handle resistance, and how we would push for the truth, for what we wanted. We both agreed we wanted to basically pull them out of their genetic counselor shoes and put them in the parent shoes. The shoes where you have already been in these offices, talking to these people, learning so much about genetics, you could educate a science teacher. Learning all the things that could go wrong vs what could go right. Finding your daughter has a heart defect and being told that a single surgery before 9 months old and she would go on with life, just like any other kid, then having things go horribly wrong and having several drs crowd around your daughter, scratching their head because the defect they found in utero isn’t what is causing these problems. Then, having to lay her to rest after a long, hard battle that you NEVER pictured you would endure. Then having a rainbow pregnancy, riddled with fear of a repeat and finding someone dropped the ball and you get answers you so deperately needed a matter of a week before delivery. Then finding you are pregnant again a year later. One screening comes back with AWESOME results, only to have another screening come back and contradict the first one. Luckily, we didn’t need to go into battle like that.

We showed up early for the appointment at 1:30, but didn’t actually go back until about 2. Yea, not amused! But, the tech we had was very quick, baby girl was cooperating very well, and she was able to get about an hour worth the measurements in about 35 minutes. I asked what normal nuchal fold measurements would be, but she said “after about 20 weeks, there isn’t a normal anymore. I was just measuring it because she was giving me a good shot at it.” Ok, makes sense. She told us she was going to go talk to the dr and then the dr would come in in about 10 minutes and handed us the disk with the pictures.

The genetic counselor came in and I can’t even explain the relief when I saw it was Amber. Amber was with us during our whole journey with Bailey, most of the journey with Crystian, and had just come back from having her own baby just days after our last appointment. She had handed our notes to another counselor (Emily) and Emily got an education fast. Emily told Amber “there were a few notes in there” and Amber said “A few notes? the file is HUGE!”

But Amber walked in, gave me a hug, and we got down to business. Told you, we aren’t much for the ones that want to do this stupid idle chatter about the weather, weekend plans, and whatnot. We want someone ready to do business and treat us like they would want someone to talk to them. She went over what she saw with the results and I was able to explain what had royally irritated me about the third counselor we had encountered, Joy. Amber got what I meant when I said that I didn’t appreciate Joy talking to me like our baby having downs would end the world. That my fears had NOTHING to do with downs. It has to do with this screening that is WORLDS apart from the first one. Joy didn’t get it. But Amber did. Amber jumped in with both feet, handling Adam and I firing off questions. We got her to explain WHY we couldn’t redo the quad screen. After 22 weeks, the standard deviation (normal range) is much bigger than it was before. It just wouldn’t be fully accurate. That’s why the first screening is the most accurate for down’s. Another thing that was brought up was that it could be something with my eggs or with Adam’s sperm and that’s where we went talking about amnio.

Now, Amnio has a 1 in 300 chance of something happening. That’s the national average. Each dr that does these tests has a different number, based on their experience and their attitude toward them. Given everything we are dealing with, they wouldn’t want to do an amnio before 32 weeks. That is the point at which they are very likely to make it, should something go wrong. Obviously the more time inside they get, the better. But this is when they feel is best to do it. They can get baby to work more with them to get what they need. Then you have enough time to get results, but not so early that it isn’t worth it, it causes too many problems. With us, they would like to do it between 32-36 weeks, depending on how fast they can get the cells to grow and then analyze them. Its something she needs to look into more, but that’s the range she thinks would be best. And the dr that would be doing the test, she’s very experienced and very confident, but she doesn’t take stupid risks. If she doesn’t feel 100% she can get what she needs safely, she won’t do it. It still scares me, but I feel somewhat better knowing how she approaches it and having met her. I feel I *could* do it. Remember, this is the only way we could look at if baby has ACD or not. There is no non invasive way to get these results.

Why does this result to eggs and sperm? We have to look a the fact that we have two healthy boys, but we’ve had things come back in a pattern with the girls and it feels the pattern is repeating, to an extent, and we wonder if its not something with how the two parts come together and based on if baby is a boy or girl, things either go right or wrong. What they would look at in the amnio would basically be just this one nonsense mutation that Bailey had. Why this one? Why not the whole chromosome? Because with how things happen, it would be a real shock if baby has ACD, but not the same mutation. It goes back to when my eggs or Adam’s sperm are formed. Its basically the same code being printed in each part, over and over. But some don’t form quite the same as the “normal” ones you have. With what happened with Bailey, if it happened again, it would most likely be the same mutation. Its really hard to explain, but with how it was explained to us, it wouldn’t be logical for another mutation/deletion to pop up. Like lighting strikes. Yes, we’ve all seen videos of people being hit by lightning and even some where the person is hit more than once. But it would be very unusual to have ACD repeat without that same mutation. That’s exactly what they would look for and why they think it would be very simple, compared to some where they have to analyze much more.

Baby girl’s heart looks good, we will be doing an in depth Echo in October with Dr Chip, along with another follow up ultrasound with the peri office the same day (you think your dr appointments suck, an Echo takes 3-3 1/2 hours and the peri appointments take about 1-2 hours). Everything looks good so far, we are just going to monitor things more. Basically, because we have had a history of things being weird, they want to keep an eye on everything. When you have a child born with a heart defect, they like to keep an eye out on all future pregnancies as well.

Just more monitoring to prepare ourselves for what can happen and be ready to deal with things better.

We did give a plan should ACD be found. If its found, we’ll be working very hard to deliver in St Louis. That’s where they’ve done the only successful full lung transplant on an ACD baby. That lil girl is now about 2 years old. If it comes back nothing is alarming, we’ll just deliver like we did with Bailey and Crystian, with lots of people on hand, NICU notified, and everyone knowing EXACTLY what they need to do.

Did we get all comforting answers? No. But we didn’t get left in the dark. She explained things that were dismissed. You take a look at this counselor, she looks kind of ditzy. But this girl opens her mouth and she’s SUPER well versed in what she’s talking about and has done her research VERY extensively. She’s VERY proactive about everything and very real about how she talks to you. I can’t explain why this girl brings me such comfort, but she and her answers do bring me more comfort than I had before walking in.

So, bottom line, we are feeling a bit more calm and comforted, but we are still anxious. There are still a lot of unanswered questions that we can’t get the answer to until at least the amnio. One thing that was brought up was Bailey’s protein levels that came back on the quad screen. Hers came back on the extreme sides of normal. For example, their cut off for normal with the hcg would be a 2.5. Bailey was a 2. This baby is a hair over 1. They don’t look at each protein alone, but they look at the pattern. The girls have the same pattern. Bailey’s was more extreme, but still there. Part of the problem is the umbilical cord, heart, and placenta working together for baby, if something goes haywire with those parts, it can come out in the screening as something isn’t right.

I know I’m throwing a lot out there and basically leaving others to come up with questions, but there are a lot of things that need a ton of explaining. we are willing to help those who don’t understand.

More fun details to remember, yes, we are confirmed as being pregnant with a girl. She’s about 1#4oz, measuring right on schedule with my timing of the pregnancy with another bigger head. As she was doing a more intensive scan, I did get to see the details of her face and she looks JUST like her sister if you ask me. I’m so excited and nervous for this little lady. I think I’ll be more calm when she’s here, but in the mean time, I’m enduring her going crazy.

Ugh, now I really need to crash out. Many days to catch up on with sleep. Keep praying, but I wanted to share with everyone how things are going and what we have learned.

Off to bed. Sleep well.

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Baby #4 due in mid January

So, I’m sure many if not all of you have heard, we are expecting baby #4 in January. Right around the beginning of the month. Pretty exciting since it happened so quickly and things have been going somewhat smoothly.
Back in July, July 3rd to be exact, we did the routine 1st trimester screening and scan. We ended up getting the results back while on vacation in Colorado that everything was great. Our risk was 1 in greater than 10,000. Basically, the risk is so low, they can’t even measure it. Great news! I cried and worried everyone around the table. I tried to give a thumbs up, but it wasn’t until I was more composed I could explain. We were excited!
We still needed to do the afp screening in the second trimester to test for neural tube disorders like spina bifida, but that really wasn’t a concern for us. The 1st trimester results are much more reliable, like 90+%, whereas 2nd trimester quad screen results are accurate in the 80%. The only thing is, 1st tri screening can’t screen for neural tube defects, but you can test for the trisomy markers. We set up the next appointments and went on our merry little way, thanking God for the good results and praying that the good results keep coming.
Keeping with our agreement with each other, we didn’t want to know what we were having unless something came back as there could be issues, then we would find out. We went into our most recent appointment on August 29 with very little nerves. We had been told our results came back good from the afp. Well, it started out nice enough.
She started doing all the measurements and everything was going pretty normal. Baby was being a stinker and not allowing very good views of the heart and its various workings, but that has been with all the kids. I started thinking to myself “Its pretty sad when you spend so much time in the perinatal office, you can pick out exactly what is what, like baby’s diaphragm, the leg bones, the organs (bladder, stomach, etc).” I even happened to notice as she was doing the measurements from head down and happened to see and was able to tell pretty sure what we were having. Was kinda bummed because the tech we normally got would tell us to look away because she knew we knew what to look for. Not this tech. She didn’t say anything while in that area, but she also didn’t warn us to look away.
Then she went back to measuring baby’s heart and still couldn’t get very good pictures. She then moved to the nuchal fold and I noticed the number, something about it didn’t seem right, and I noticed that she was measuring the same thing over and over and over. She never said anything was wrong, but she wasn’t saying anything at all either. Finally she says she thinks she has what she’s best going to get.
Then the perinatologist comes in with a resident and we allow him to come in and consult with us (all the more we get the chance to educate another person about acd and all that we know about it). She mentions that the heart pictures weren’t the best, we’d need to come back for sure for better pictures. We knew to expect that. But what she ended up bringing up was the nuchal fold (the skin on the back of your neck) and mentioned it was thicker than it should be. Normally, it should be below 5mm. Our measurements were between 5.2-5.8mm, depending on the image she got. She brought up the first tri screening results and said that was a good sign, but what were the second tri results from the afp. No one had them on hand and all I had been told was that they were good, they came back negative. The genetic counselor (who came in with the dr) decided to go get them so we could all talk. This is where things got even stranger. Turns out, when they did the afp screening, for some reason, the lab did a full quad screen. And it had come back somewhat worrisome.
My age related risk for having a baby with Down’s is about 1 in 760. After first tri screening, it dropped to 1 in 10,000+. But second tri screening came back 1 in 319. Ok, there’s a HUGE jump in the numbers. But mixed with the measurements, the risk jumped even more. From 1 in 300+ to 1 in 30. Ok, this is not cool.
We talked about what else we could do as more testing and see what is going on. What we came back with was either doing another quad screen and seeing if it came back just the same (the two screenings were drawn at different clinics and sent to different labs) and the free cell dna test. After seeing everything laid out before us and still reeling from the blind siding results, we decided to do the free cell test. Accuracy is 99%+ All they need to do is draw my blood and send it off. Then, they seperate my blood from baby’s and see if there are any markers for downs. Takes a week to get results back. Mind you, this is on a friday. Before Labor Day. This was going to be a very busy week with the holiday, Anthony starting school, and all the other normal stuff that pops up without warning all the time. Great to know someone will be able to enjoy their weekend!
Fast forward to Monday, September 8. While I was getting ready to go pick up Anthony up from school, the call came in with test results and I didn’t make it to the phone. I instantly started praying. I had a feeling I knew the results, I just wasn’t totally sure.
I finally got to call back and the genetic counselor I talked to made it seem like she was telling me the best news of my life. The test came back negative for down’s.
It took a lot of talking to get her to realize why I was so upset with the results, I think I finally got it through her head that this was a pattern much like Bailey. That down’s wasn’t our worry, acd was. that down’s means there’s at least some chance at life. Acd is pretty much certain death. She was pretty dismissive of redoing the quad screen to double check and rule out any lab inconsistencies and advised all that is left to test for things like acd are invasive. Like Amniocentisis (Amnio), which carries a 1 in 300 chance of something goes wrong. I refuse because any chance is a chance too great, especially before viability. There’s just too much at stake. I might consider it down the line, but there are a lot of moving parts to this whole situation. Basically, we learned nothing except that baby doesn’t have downs, there is no more non invasive testing (the kind of testing they can do on just drawing blood from me, invasive testing would be drawing blood or fluid from baby or the amniotic sac), and we have even more questions about what is going on inside my belly.
So, recap.
1 we had screening done in 1st tri come back beautifully, 2nd tri didn’t come back nicely, but we weren’t warned.
2 baby doesn’t have downs, very reliable test
3 there is no more testing before we get invasive, which we both feel very stongly against,
4 oh yea, I totally forgot. Its been confirmed through ultrasound and through the testing (and I was right when I saw that area, told you, I know what to look for). We are having another baby girl. No names are picked out for sure and won’t be until likely baby is born. So asking won’t get you anywhere.

If you have questions, please ask Adam or me. Its a lot of confusing stuff to try to explain to others if they don’t have experience in things like this. where it literally hits the fan. I’m going to try and keep everyone posted with each appointment (regular ob appointment on the 16th (yes, Adam’s birthday) and september 19th (another ultrasound scan to try and get heart pictures.
Keep praying for our baby girl. So much uncertainty, its hard to know what to pray for. But we would appreciate it.

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