Friday, May 21, 2010

Breathing a big sigh of relief!

Not that we were expecting anything different, but all of the labs are now reporting in from the amniocentesis (much sooner than expected too!) and the news is all good. The news is great in fact!

Just a quick recap, they pulled out 10% of Aaron’s amniotic fluid and sent it off to three different labs for the genetic testing that was needed. Phase 1 came in a day or so after the procedure, and came out perfectly normal. (See post on that below)

Phase 2 of the testing came in next. This was the chromosome study where they fully identified all 46 pairs of his chromosomes. They found once again, the XY chromosomes indicating that he is a boy. They also looked for spina bifida, and he came out negative. We found this out on Wednesday.

When they called about phase 2, I missed the call, and so I called in today with my questions, and fortunately right at that time the MCADD test was in. He came out negative for MCADD. Whew! The really interesting part is that all this time, we have been going along with the knowledge that he is a carrier of the illness like Chris and I. This is what the PDG lab told us when they tested him when he was just an embryo. Now they are showing that he is, in fact, not a carrier! They have run the test twice, and both times it showed this result. They are going to run it a third time just to be sure, and then they plan to call the PGD lab we used and talk to them. The PGD lab will likely re-run the test on their end as well. Either way, this lab that has done the amnio is telling us that they are certain that Aaron is not a carrier!

This is a huge relief for us. There is so much that is unknown about this illness. We guess at some things. For example, many of us on my side of the family that are carriers have issues with hypoglycemia and high cholesterol. These are minor things that can easily be controlled. But, think about me as a mother that has already lost a child. Any kind of complication that can be avoided means more than it would to anyone else. Also, when Aaron gets to the age and place in life when he can have his own children, we will not be holding our breaths through the whole thing. His children will not have to worry about MCADD. So amazing!

Chris and I are in great spirits tonight thinking about this incredible child headed our way that is healthy. After all of this work, and after all that we have been through, he is coming, and it is going to be awesome!

Thursday, May 13, 2010

Amnio Follow Up

I had my follow-up doctor’s appointment today to get checked over now that it has been a few days since the procedure. It is kind of a relief to get to this day. I have been a little nervous making my way through the last three days, worrying about having complications. I have been over-analyzing every little symptom I have had since the procedure.

Last night I was thinking about what it would take to make me feel better, and I decided a quick ultrasound just to make sure he really has replaced the amniotic fluid that was taken and to know by looking at it that the placenta really is ok. I went in today and expressed my concerns, and fortunately, my doctor had no problem doing this. I got to see him again, which is always awesome. He was sleeping, so for once he was sitting still. Everything else looked good. She felt confident that I have healed up, and the baby is fine. The cramps and soreness (feels like bruising) I feel is totally normal and nothing to worry about. I am breathing easier now.

The first leg of testing is back. He came out negative for down syndrome, trisomy 13 and 18, and the other more common chromosomal issues. They also confirmed again that he is a boy as well. That all feels great to hear. We now have to wait on the remaining two labs to report their results. The confidence level the genetic counselors expressed over the health of our boy has stuck with me. I don’t feel that anxious over the rest of it. I will feel awesome when they tell me that the rest of it came out clear for sure. In the mean time, I am trying to relax and not think about it so much.

Monday, May 10, 2010


(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!

Thursday, May 6, 2010

16 Week Update

The last few weeks have been mostly uneventful, which is nice. I am enjoying getting more time in between me and first trimester. I don’t think that I am 100% yet. I am not nauseous very much anymore, but I do still seem to be picky on food, and have been eating out way more than I ordinarily would. I get kind of frustrated with myself about it because I am ordinarily a very health-conscious person, and to eat junk on a regular basis is REALLY not me at all, and I hate the feeling that I am starting Aaron’s life by feeding him this stuff. Honestly, if I truly remember back, I think it was probably like this with Noah as well, but I was less sensitive to it because I hadn’t yet started Bradley Method classes to know what an appropriate diet was when you are pregnant. Many people out there are so eager to tell you that you are “eating for two” or that “this is the time that you get a free pass on food and can eat whatever you want, so live it up.” That couldn’t be further from the truth. Oh well. I do what I can, and trust (hope) that this will end soon, and I can get back on track with my normal regimen.

Chris and I are doing some last big house projects before the baby comes, since we know that that will not be the priority for a good long while. We had new countertops installed in the kitchen, and Chris put up a new backsplash as well (see pictures below). It looks amazing! Our cabinets are in great shape and worth keeping, and to add this update makes it look like a completely brand new kitchen. We also ordered new shutters and a new storm door to put up. We are scheduled to have the exterior of the house re-painted in June, and want these new things to put up once the painting is done. Chris will also spend a lot of the summer gutting the front and back yards as well. After these things are taken care of, that should tide us over for a while.

We are also planning some last trips since travel will be very difficult once Aaron is here. Chris always likes to do some big bike rides in the summer. I love going along since it takes us through some of the small mountain towns that are very peaceful, quiet and cute. All of them are just a few hours from home, so not such a big deal to slip away for long weekends here and there. Chris plans to do two trips this summer. One will be a mountain biking trip with my father and a good family friend. The wives all tag along too and support the guys as needed while they ride and enjoy one another’s company. This trip will be in the Crested Butte area.

The second trip is called the Courage Classic, and it is a 3 day, 200 or so mile trip covering at least 4 mountain passes. It is done on road bikes, and this ride is set up to raise money to benefit the Children’s Hospital in Denver. In particular, Chris plans to ride on the Gene Team, which raises money exclusively for the Inherited Metabolic Disease Clinic. These are the folks that have provided a tremendous amount of support after Noah died to help us understand what happened. After Aaron is born, he will be on their care plan until his newborn screenings come back that will tell us once and for all if he has MCADD. If you would like to support Chris and his ride in memory of Noah this summer, please go to: Chris’s Courage Classic Page

I have no updates to report on a recent doctor’s visit right now. I am on hold with them until I get the amniocentesis done on May 10. There was some stress surrounding that. I made an appointment with the doctor that my OB recommended. At their request, I faxed over all of our genetic paperwork that indicates that Chris and I are carriers, and Noah’s results as well showing the extent of his illness. They took one look at our stuff, and immediately called me back to tell me that I needed to go further up the food chain in terms of doctors that do this kind of work. Given our issue and level of risk, there is a group that handles screening for more severe genetic disorders and issues. It was a little unsettling to go through this. We have always known what our risk was, but to have experts in the medical profession react this way was scary. Logically, I want the very best people looking at our boy and making sure he is ok. Emotionally, I had appreciated our OB’s take on sending us somewhere where this is normal and healthy, and there would be ultrasounds which is always fun, etc. She knows our situation and was probably toning the whole thing down to keep us from freaking out like how we have been. Either way, I will feel better when it is all over, the results are in, and it is what we expected and he’s healthy. In the meantime, I am just kind of holding my breath on the whole thing.

Finally, I want to wish everyone a happy Mother’s Day. I am feeling grateful for Aaron, because this holiday would be pretty painful without him. Instead, I will be enjoying the fact that I have two children to think about this year. I am grateful for both of them, no matter how tough it can be at times to be their mother. I love them very much, realize so much more how precious each of their lives are.

Here's the kitchen before and after pics. For the "before" picture I used the one when we were just looking at the house before we bought it. It is a bit blurry, but you can definitely see how much we have done! (You can click the pictures to make them bigger.)