Amniocentesis

(Really long post, but it was that kind of day!)

What an exciting day! My appointment was at 10am up in Denver. That was perfect, because it meant we didn’t have to get up crazy early to get there, and has left plenty of time to relax this afternoon. My mom offered to drive us up there again to keep the stress levels down, and she had some errands she wanted to run up there anyways. She came and got us around 8, and we hit the road.

We got up there, checked in, and waited until the genetic counselors were ready for us. The whole thing took place in the same building and the same floor as where we did all of the in vitro procedures, so we knew the place well and there were some familiar faces. When the genetic counselors came and got us, they took us back to a room where they went over all of our family history. (To those family members that have been tested for MCADD, thanks a million, because that really helped paint a very clear picture for them!) They were really pleased to hear that when we did the in vitro procedure, that we took the extra measures to do the full chromosomal testing, rather than only look for MCADD (remember that we tested for all the more common issues like Down Syndrome, Spina Bifida, Cystic Fibrosis, etc). They were relieved to know that more than likely, there would be no hard phone calls to make when the results came back. This is just precautionary.

It was interesting to hear what a small world the genetics field is. They all know each other, and know their patients and their stories well. One of the two ladies we talked to today knew of us from when Noah passed away, and is currently helping to write the book on MCADD that the donations from the Noah Fund is producing. She was happy to meet us after hearing so much about us. When they asked which doctor has run the genetic testing on Aaron to date, we mentioned his formal name “Dr. _____,” and they responded “oh, yeah…Mark!” like they had known him forever. It is sad that there are not more that do this kind of thing, since we know all too well how important it is, but the fact that they collaborate so well with one another is comforting.

We had a lot to go over with them:

• Family history


• What is MCADD and genetic disorders from recessive genes (which we did awesome when she quizzed us on what we knew!)


• Our level of risk


• The procedure that we are doing today


• Signed off on all the appropriate forms

When they showed us the diagrams walking through the genetic testing they do, they had a cool one of the chromosomes as they mapped them. Chris asked if we could get a copy of Aaron’s when they are done with it. They said that yes, they would be happy to. I think Aaron is going to have just about the coolest middle-school science project when he is older between the picture of him that we have when he was only 100 cells big, and his chromosomal mapping, plus everything else we have saved from this process!

Next it was time to move on to the fun part. They had their ultrasound expert (who also has a specialty in diagnosing genetic disorders as well) take a full look-see over Aaron. Turns out she was the expert that worked with the fertility clinic on the day of implantation to guide the pipette into the right spot when he was put in. It was great to see her again. We were so impressed with her before, that we were immediately put at ease knowing she was going to be working with the doctor on the procedure today.

The whole ultrasound process was fantastic! He has grown so much and looks like a regular baby now. The funny thing was how active he was! He made the tech work so hard to get his measurements, because he kept doing back flips, and somersaults, and kicking, and moving his arms and hands. He seemed to like having his hands up by his face, though he didn’t hesitate to move them around a bunch too. Sometimes his butt was on the left, and his head on the right, and then he would quickly do a 180. Sometimes he was high in my stomach, and sometimes low. He always seems to prefer my left side, so at least that was helpful! The tech said that this preference of his is normal. Some babies just like it better on one side or another depending on what is more comfortable. I had been wondering about that, so that helped ease that worry!

Here’s what we learned about Aaron:

• He is 12 centimeters long from crown to rump (about 4.75 inches)


• He weighs 7 ounces


• He is definitely a boy (kind of funny because Noah was so modest and hid from us, but Aaron was a little exhibitionist in comparison!)


• He is measuring ahead of where he should be. About a week ahead of schedule. The experts said that this is great.


• His heart rate is 140. All four chambers were present and accounted for. It looked perfect.


• His brain measured right on and looked perfect.


• One thing that made us laugh and shed a tear is that his toes were all spread out. This is something Noah did that we loved. We won’t know for certain until he is here, but it looks like Aaron may get that same funny skill too.


• Lastly, they looked at my ovaries, and I really am healed back up 100% after what I put them through with in vitro. That was comforting to know. No cysts or anything. Perfectly healthy. Woo hoo!

Finally, it was onto the scary part: the amniocentesis. The ultrasound tech went and conferred her analysis with the doctor. Then the doctor then came in, and said that everything looks normal so far, and that I am in great shape to move onto the amnio. The doctor used the ultrasound to find a good spot to do the procedure. She found a pocket of amniotic fluid that was off to the side, away from the baby where they could safely go in and get what they needed. Because of the testing they needed to do, the plan was to take about 10% of of his amniotic fluid. The fluid will be going to three different labs to do the entire genetic makeup, so they had to get enough for that. Apparently, the baby sheds off skin cells that can be extracted from the amniotic fluid and used to get the genetic code. That is why all they need is fluid and stay completely away from the baby.

They swabbed me down with iodine, and administered a local anesthetic through a needle. Then she went in with the big needle to get the fluid. I had my eyes closed through the whole thing. I tried to take deep breaths and relax as much as I could. It didn’t hurt. I could feel some pinching as the needle went in. Then mostly it was just uncomfortable. One friend described it as a feeling like something foreign is there that shouldn’t be, and nothing more. That was my experience as well. They got the fluid out, and the baby never came close to where they were doing it. The needle was probably in there for a full 5 minutes or so. It kind of felt like forever, but in reality, they were efficient and got what they needed and got out. The doctor said that it mostly looked like it was baby pee, and in fact, it was yellow-ish. This is fine, and it made her feel confident that this will be low risk, and no problem. She estimated that Aaron would replace what was taken in the next couple of hours.

After that was done, the ultrasound tech stepped in again, and took a good look at Aaron to make sure he was still ok. His heart rate and movement was right where it was when she looked at him earlier. They took a blood sample from me for further testing, and then it was time to go home. After it was over, and it was just Chris and I in the room, I did let out a shaky breath and shed a few tears. The whole thing was pretty scary, but it was over. I got myself together and we headed out.

I will have to wait quite a while, about a month at least, to get the MCADD results back. If I lived in a different state, I would probably get it back sooner. As we have found out in this journey, Colorado is under-equipped when it comes to testing for these sorts of things. The babies with their newborn screenings go first, and my testing will go later. I am kind of ok with this, because when it is Aaron’s blood that will be run through their machine, I will want him front and center ahead of everyone else. I have 5 months left to this pregnancy, and as hard as it is, I can wait for our results. I will be sure to let you all know when it is here.

I have been relaxing a lot this afternoon. I have had some cramps, which they said is normal since they penetrated my muscle wall to get the fluid. After a nap, it felt a lot better. I plan on taking it easy for the next few days until I see my OB on Thursday. They say that women who experience complications do so within 2-3 days of the procedure. Until that time, no lifting anything, and laying low. Chris is taking great care of me. Both of us are just on cloud nine after seeing him today, and hearing how healthy he is. Another step taken, and on to the next part!