Baby Kohr Chronicles

Our appointment this morning was pretty uneventful. There hasn't been much of a change since the last ultrasound 2 weeks ago. The baby still has a heartbeat in the normal range, and continues to grow at pace for gestational age. The cystic hygroma and fluid look to be about the same size as they were 2 weeks ago. The doctors' expectations for this pregnancy have not changed- the prognosis is still not good, and they think it is likely that the baby will not survive more than another couple of weeks.

They will be keeping an eye on Kara to make sure there are no increased risks. And if, at any point, they feel she is at risk, they will urge us to deliver right away. She is scheduled to go in on a weekly basis for blood pressure checks, where they can also check the baby's heartbeat. We will probably go back 2 weeks from now for another ultrasound to check on the baby, but the doctor left that up to us to decide how frequently we would like to continue doing those.

It is getting increasingly difficult to stay positive and hopeful about how this may turn out. Our expectations have been set appropriately by the doctors, and we have done enough research to know that our chances of a positive outcome are very slim. But then again, the odds of this happening to in consecutive pregnancies were very slim as well, so the odds don't do much for us either way. But, we are still trying very hard to be hopeful, and praying for a miracle. Even if it is unlikely, it is still possible.

Thank you all for being so supportive. Please keep us and the baby in your prayers. We will continue to update as we have appointments and as we learn anything new.

Warning- kind of a long post ...

We spoke to the genetic counselor again this morning because the CGH analysis is complete. The results, while good, are a bit ambiguous.

(CGH microarray looks for additions or deletions to each specific chromosome. If a chromosome has more or less than it should, it will show up in this test. The test will not, however, show if there is a translocation or inversion. That is, if a piece of a chromosome breaks off and flips over before sliding back into its original place. Or, if 2 pieces of a chromosome break off and trade places. In both cases, the chromosome would appear to be the right size, but the genetic material is flipped around.

CGH is typically used prenatally to determine if the baby has a specific genetic condition whose location is known. Or, it is used to test the parents to see if they are carriers for a specific condition. For example, if you test a baby for Tay Sachs Disease, the geneticist knows exactly where to look for that information- which gene to analyze and what it will look like of it the baby is affected.)

Because we are not looking for any specific condition, the whole picture was analyzed. There appears to be a small piece of the baby's chromosome 16 that is duplicated. Based on the location of the duplication and the specific material that is duplicated, there is no known affliction that they can say the baby has.

The geneticist also has our blood samples to use as a comparison. So, when they found this duplication, they automatically compared it to our chromosome 16's to see if either of us may have passed this duplication on to the baby. Turns out, Matt has an identical duplication on his chromosome 16.

Because Matt is a normal, healthy person, they are pretty certain that the duplication is not causing the baby's issues. Duplications such as this are not uncommon, and 99% of the time they are not of concern.

There is a threshold by which they measure such things to determine if the duplication of clinical significance. If the duplicated area is small enough, and a parent has clearly passed on the duplication, they will say that the duplication is clinically insignificant. The duplicated area in this case is a little too large for them to say that it is clinically insignificant. However, the duplicated area in the baby is the exact same size as that in Matt's DNA, so we have every reason to believe that it is, truly, insignificant.

At the end of the day, we really have very little new information. They have successfully ruled out many known conditions based on the testing we have done, many of which have no known association with the problems that the baby has. It appears as if the most likely explanation is that we are both recessive carriers of something that causes cystic hygromas. Because we cannot pinpoint where that recessive gene is, we will most likely not be able to test for it in future pregnancies. However, in an attempt to be proactive where we can, we are most likely going to bank some of the amniotic fluid from this pregnancy so we have a sample moving forward that we can compare future pregnancies against if we come across this again. Hopefully, in the event that we need the old sample, technology will have advanced enough that we be able to test for more things that we are currently not able to detect.

There is one more test they may still run, the uniparental disomy test that was discussed when we had the amnio performed. This goes back to the concern of mosaic trisomy 15 when our CVS results were inconclusive. There is still a chance that the baby's chromosome 15 is not representative of both of our DNA (and both chromosomes came from the same person). The genetic counselor is pretty certain that this isn't what is going on, but we can have them run the test if we would like to rule that out as well. We are still on fence on that one...

We are still praying for a miracle and hoping things can turn around. And most of the time it is encouraging to know that they haven't discovered anything that points to a definitive risk or condition that can be passed down. However, it continues to be really frustrating and disappointing that the tests keep indicating an otherwise healthy, normal baby. There are a couple (literally single digits) of documented cases where cystic hygromas and hydrops have resolved up until about 30 weeks. So, as long as there is a heartbeat, we will be hoping and praying that we can add another to the literature. Please keep praying that this baby can overcome the odds.

Thank you all for your thoughts and prayers! We will keep you posted as we learn more.

We had a level II ultrasound this morning. For a normal pregnancy, they do this between 18 & 22 weeks and determine that the anatomy is all developing correctly, etc. For most expectant parents, it is a fun appointment where they can relax and watch for 30-45 minutes as they take lots of pictures and measurements.

As soon as the ultrasound technician had her first look, she immediately told us we still have a heartbeat. We both let out a sigh of relief and were able to sit back and watch as she took measurements and checked everything out. The heartbeat was normal, and the growth measurements are all on track for gestational age (18.5 weeks). She pointed out the 4 chambers of the heart, the kidneys, a full bladder (the baby's- not mine), the brain, etc. She also pointed out the large cystic hygroma (which is hard to miss, so we already knew where it was), and she noted that there is definitely fluid around the lungs and in the abdomen. There is also quite a bit of swelling between the baby's skin and the baby's body (different from the fluid inside of the abdomen). So, while the growth measurements were on track, it was clear that we were still dealing with lots of problems.

Then the doctor came in to see us and he took a look via ultrasound. He said that the situation is definitely progressing and getting worse. He poked around on the ultrasound and tried to get some different views of the heart, and he pointed out different areas of fluid that he wasn't sure we were aware of.

When we were done with the ultrasound, he brought us into a room to discuss the situation and ask questions. He re-iterated a lot of what we already know- how rare this is to have it happen in two consecutive pregnancies, how we may not be able to find out the underlying cause, how the prognosis is very grim, etc. He did talk a bit more about risks to Kara's health as the hydrops gets worse. (This is the mirror syndrome the other doctor discussed with us early on.) So they will be monitoring Kara on a weekly basis for signs of pre-eclampsia moving forward.

We go in next week for a blood pressure check (today's BP was fine), and then we will go in a week after that for another ultrasound to see if things are progressing. At this point, the doctor is pretty confident that the baby will not survive more than 2-4 more weeks, given what was seen in today's ultrasound.

We are still trying very hard to hold onto some hope that this can still turn around. As long as we have a heartbeat and Kara is not in any danger, we will be holding out for a miracle. But, we also know that we have to prepare ourselves for what we will likely have to endure in the next few weeks.

Please continue praying for us. We certainly need all of the prayers and positive thoughts we can get at this point. We will continue to update as we get new information. We hope to have new test results some time next week that we will definitely share. Thank you to everyone for all of your well wishes and support! We are trying to hang in there as best we can. And we certainly could not get through this without everyone's support. Thank you!

We got the call today with the amnio results, and everything is normal! There are no signs of Trisomy 15, mosaic or otherwise. From a big picture perspective, this is good news. We still have plenty to worry about, but this is one hurdle along the way that we can say we have successfully cleared.

Now we wait until Friday for our next ultrasound to see how things look in there. And we continue to wait for our other test results.

The CGH analysis should be complete in the next week or so. The genetic counselor tried to rush those through, but that didn't work out. They have to let the cells grow and divide for so long before they can figure out what is going on there, so that takes longer than the amnio. The CGH is looking for any additions or deletions to the baby's chromosomes. If there are none, then that will be another hurdle cleared. While the CGH may not be able to tell us what is causing the cystic hygromas, it will at least help us eliminate what is not causing them.

There is still a chance that we are looking at a uniparental disomy- where the baby has 2 chromosome 15's from one parent or the other. But, according to the genetic counselor, the odds of that are so very slim that they will do that test once they have completed the other and ruled other things out.

Even if all of the testing continues to come back normal, we still have to worry about the cystic hygroma and the hydrops. But, at this point, we will take every small victory along the way that we can get. And every good test result we get along the way increases the baby's chances of being healthy and compatible with life if we do overcome the cystic hygroma and hydrops.

Please keep praying for us and for this baby. And thank you all so much for all you have done for us so far. We will update again on Friday after our appointment.