Status Quo

Today was another day of aniticipation and awaiting for news. We were expecting the rest of our amnio results. After trying to work all day and be productive, we finally received news that structurally all the chromosones look normal. Basically that tells us that there are not three of any chromosones or missing/extra parts or pieces. That is what our Dr. and genetics counselor expected to see on the results today, so no change. The amnio is a basic analogy to a house. On the outside the house looks great, but what is on the inside could be a whole different story. Just like doing a house inspection there are all these nooks and crannies things issues could hide. While this gives us some good news in that it eliminates some conditions, there are still many lurking out there.

The main running diagnosis at this time still is the Osterogenesis Imperfecta (OI). The office contacted a lab that specializes in testing for genes that specialize in collagen mutations (as that is what is lacking/or altered form in OI). And while there are a handful of conditions that can be affected by collagen and mutation of genes, upon speaking to them, our counselor said they agree that as it presents clinically it looks like OI. They have agreed to test our sample. A second lab was contacted regarding a different possible diagnosis, campomelic dysplasia. At this point everyone agrees that it is pointing towards OI but since accruacy is pretty good on this disorder it would be an easy rule out.

The kicker to these tests is that they are extrememly expensive. At this point we are at the mercy of the insurance company now. The doctor and counselor are presenting their case to the insurance company on additional testing and we await their verdict. They feel pretty good on their chances as these tests will affects management of this pregancy and all future pregnancies (i could never imagine going through this again, but the insurance company doesn't need to know that). They go to the insurance tommorrow and hope to hear back soon. The tests then can take up to 3 weeks for results. More waiting. As you all know I am probably one of the least patient people on earth.

In the meantime, I have a regular OB check up Wednesday with nothing special going on there and I moved our ultrasound up to Aug 31 with the perinatalogist in Grand Rapids. Here we will be able to see if there are any more breaks, abnormalities of bones, or growth of bones slowing. Growth could drop off at any point or stay on track, no one can tell. I used to love ultrasounds and now I am terrified of them.

We are extremely thankful for all the prayers, words of encouragement, letters, dinners, cards, on and on. We can't believe how many people out there are praying for Paige. While we will never know in this lifetime why God has chosen Paige and us, we know why all of you are a part of our lives. When I feel down and can't being to think how I will face this challenge, a sign from one of you comes in time.

Meanwhile here is a view of our sweet Paige.