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!