Good News and No News

I cannot even begin to describe to you the roller coaster we have been on. Last week we hit our lowest of lows when we got the news about the possibility of having placenta accreta. And this week? 

We finally had a victory.

On Tuesday, my maternal fetal medicine (MFM) doc called to tell me that our next genetic test results came in. I'll get to those in a minute. After a bit of conversation about that and the next steps we will be taking there, she moved on to the placenta accreta. I currently see two sets of physicians- MFM and my regular OB. The news we got last week came from my OB, and although we do appreciate his wanting to prepare us for the worst case scenario, my MFM doc was none too happy to hear the fear that had come out of that appointment for us. "Kaila, I can tell you beyond a shadow of a doubt, you do NOT have placenta accreta. I have done all of your ultrasounds and I would have made sure to tell you if I had seen it. Please. I do not want you to worry about this, because I assure you, it's not something you have." She went on to tell me her extensive experience with that particular condition, and then said, "I do have to say though, if you DID have it, and you don't, then your OB is extremely talented and he would do an excellent job with your surgery."

So. Whew. Yay? I got off the phone and looked at Jamey. He asked for details and then said,

"Gosh, I don't even know if I can believe any good news at this point."

So that's where we are. We have good news as far as the threat of a hysterectomy goes, and although there is always a risk anytime you have a baby, we are feeling much better about that part. And at the same time...good news scares us. We aren't typically people who wait for the other shoe to drop, but at this point it's been hard not to. I have had more joy this week than I've had in the last few though, so I'm just going to take it and enjoy what I can. This journey is far from over, and being intentional in finding joyful moments is crucial for me. I do not want to fall into a permanent pit of despair (but I'm okay with hanging onto the edge for a little while when I need to ;) )

So, on to genetic testing. When we were pregnant with Sam, we did 3 different tests. We did what's called a karyotype test (that looks at the size, shape, and number of chromosomes), a microarray (that measures the expression levels of a large number of genes), and I was also tested as a carrier for Polycystic Kidney Disease (PKD). Sam's karyotype came back normal. The microarray came back normal. I was not a carrier for PKD. It was this knowledge (or lack thereof) that gave us confidence in having more children because we didn't think our recurrence rate could be very high. No answer was a good answer.

We have gone a slightly different route with Gabriel. We did not do a karyotype because that was likely to be normal as well. Our MFM doc started with a microarray. Normal. After the microarray, our doctor focused in on a specific test and disease that we had never heard of before. It's called Pierson's syndrome, and it affects both the kidneys and the eyes. Sam never opened his eyes and we never really had them checked out, so we had no information to confirm if there were problems. The test for Pierson's looks for mutations in a particular gene called LAMB2. She was sure she had the answer for us. We gave the go head to sequence that gene.

Normal.

We have no idea what we are carriers for. Our next step is running a polycystic kidney disease panel on Gabriel, and we should have those results fairly soon. However, none of this information changes anything as far as prognosis goes. Gabriel is still out of amniotic fluid, and his lungs are not going to develop the way they need to for him to live long after birth. I am grateful we have a plan to keep looking for answers, and my doctor has been open and honest about what she's looking for and why. I don't fool myself in thinking I understand everything completely (or even that I explain it all that well to other people), but having a biology degree has given me a one-up as far as understanding most of what's being done. Because of that, I'm not frustrated we haven't found our answer yet. I'm not even all that surprised. I do have a sense of peace about this whole process.

When our doctor first suspected Pierson's, I asked if Gabriel could be an organ donor. The answer is no. Now...he possibly could be, depending on these future test results. If you've been praying for us, please keep praying for our miracle to bring him home. And if he doesn't get to come home, please pray that he could be an organ donor. The thought of him being able to do that for another family is more bittersweet than I can describe. 

I know this is a very long update (and goodness, I still leave out SO MUCH), but I know that the prayers are flowing and it's useful to know what to pray for. Thank you all so much for doing this with us.