Update: OBGYN Appt.

Last night, Nick and I went to our follow-up appointment after the miscarriage. As you know, I thought we were having all of the genetic testing last night. But as it turned out, the baby's genetic testing results were back and they had found that she (yes, she was a girl...I am devastated, because I wanted a girl so bad) had Trisomy 16, which means a third copy of chromosome 16. Normally we all have 46 chromosomes which means we have 2 of each. Each parent supplies 23 (22 numbered chromosomes and either an X or a Y, which are the sex chromosomes). Chromosomes are long strands of DNA. If you have Downs Syndrome, as my sister Madison has, you have a third copy of chromosome 21. Some chromosomal abnormalities can result in full term babies. Some, such as Full trisomy 16, cannot. However, there is a mosaic version of Trisomy 16, which means that the third chromosome 16 is attached to some cells but not all. Our genetic testing result said Aneuploidy 47 XX, +16 translating to 47 chromosomes, female (XX), extra 16. I can find a ton of research on the mosaic variety of Trisomy 16. I think the reason for that is that those children live and research is done and published. But I am finding that I can hardly find any research on Trisomy 16. I am baffled. The little research that I have uncovered tells me that Trisomy 16 is the MOST COMMON trisomy that occurs and the most common chromosomal abnormality resulting in miscarriage. Full trisomy 16 does not ever result in a viable pregnancy, as its not compatible with life. This trisomy is called a fluke. I find opinions that say its age related. I find opinions that say its not. What I have yet to find, as you may glean from all of this is the answers I need. I had no testing done after the first miscarriage as the first miscarriage is written off by medical professionals and civilians alike, as "natures way of weeding out the bad eggs". OK, I can accept that. So I try to get pregnant again and voila, I have a second miscarriage and this one with a "fluke" genetic problem. The doctor cannot tell me if this could have been the issue the first time, because I had no testing and it could have been anything. What I need to know is really could this have been the problem the first time? Could this happen again? Are we carriers? Can we be carriers? I only read one place that you can be a carrier. Apparently, the parents (usually one) can have a balanced or unbalanced translocation. Balanced translocation means that the total amount of DNA in each cell is correct however DNA material is missing from its normal chromosomal location and it is found attached to another chromosome. Unbalanced is a rearrangement between 2 or more chromosomes that results in a change in the amount of DNA that is present. You can either have missing DNA or extra DNA. If a parent has one of these translocations, you can have a baby with this problem. No where have I found any information that tells me if we already have had a genetically "normal" child, for lack of a better word, that we are not carriers. So basically all of this is to say that we will be meeting with the doc to have a genetic meeting and then Nick and I will undergo genetic testing. Right now, the only thought process I am having is that I really hope, pray, wish upon a star, that we are not carriers. If our genetics come back as normal, I think I can say that I will feel better about getting pregnant again. If it doesn't, well I have a whole other thought process to go through and I guess we will cross that bridge when we get to it. May 22 is our appointment to discuss the testing and then it begins. Nothing can go fast enough for me. I just need to know everything now. Wish us luck. Please.

This last couple of weeks...

To give you an idea of what life has been like lately- last week unexpectedly, we all were off from our jobs and school. Some of us for planned vacations (Nick and Gavin) and I was off because I had my second miscarriage in 5 months. It was actually great that Nick and Gavin were home because it forced me to deal with it in a different manner than if I was home alone wallowing in my self-pity. Not that I do not think I am allowed, because I do think its perfectly fine if thats how I choose to deal with it. However, it made me choose not to cry constantly and to concentrate on the wonderful things I have in front of my face. My wonderful husband and our son (and lola too...not that it always seems that way!) Its been nuts attempting to have a second child. Especially given that it was so easy with Gavin. With him, it was one, two, three. With this its been like an emotional rollercoaster that seems to have one stop- heartbreak. We want another baby so badly, we have the means, the space, a loving family and a great relationship that we have worked to keep that way. So why not us? Why can't we have another? Doctors say because we had one, we can. They went on and on about how there is a 90% chance nothing is wrong with me or Nick. But, that remains to be seen. We will be having testing done on May 5 and will get the genetic testing results of the baby about one week later. I am really interested to know if there is something wrong and something that could have been easily detected after our first miscarriage in November. Being a med mal lawyer, doesn't help all these thoughts. Anyway, I will keep updating on how the test results go and what we find. I hope that we find that we can try again and will be successful.