12/11/2008

So confused...


It doesn't seem like I'm ever going to be released from limbo-land. CGH was supposed to be our answer. But it looks like even the most high tech thing out there isn't even able to help us. I feel like I've been holding my breath all this time and thought I could start breathing again once we get the results. At least we would know one way or the other. But I was wrong. I don't even know if I could ever breathe again...

I received a phone call from our genetics counselor around lunchtime today. I so was not expecting a phone call from her at this time. Although my heart was excited for a very brief moment, I sort had a feeling that there's going to be bad news. She asked if we had time to discuss things. It cannot be good news if a genetics counselor is calling about CGH results and asks if you have a moment to discuss things. I asked her if it's bad news, and she said, "Complicated." Immediately, I knew that there was a problem. My first thought was that maybe our cells got lost in transit from Colorado to New Jersey. I was not prepared for what she was about to say.

The genetics counselor told me that Dr. Mandy Katz-Jaffe (CCRM's genetics research director) received our CGH report via phone from Reprogenetics, so she does not have a detailed, written report yet. Out of the 15 blasts biopsied, she said that 8 of them were abnormal. Ok, I guess that's to be expected. I was prepared for that. I wasn't prepared to hear what she was about to say next. The rest of the blasts were 'no results,' meaning that they aren't normal nor abnormal. Huh? She then went on to say that it has nothing to do with our embryos but that it's a limitation of the technology. Huh? I was confused. If CGH could determine 8 embryos as being abnormal, why can't they determine the rest one way or the other?

She said that Dr. Schoolcraft and Dr. Katz-Jaffe had a lengthy discussion about our situation, and she informed me that they never do that. They either defer it to one or the other, but I guess they wanted to discuss the best way to proceed given the circumstances. For the seven embryos with no result, Dr. Schoolcraft and Dr. Katz-Jaffe are recommending that Dr. John Stevens (CCRM's director of the embryology department) thaw the 7 embryos, re-biopsy them, and re-vitrify them. Then send the biopsied cells to Reprogenetics next week where they will perform FISH analysis for the translocation only (13 & 15). The genetics counselor emailed me papers that we will have to sign to have the 7 embryos re-biopsied and re-tested. Dr. Stevens would be able to re-biopsy them next week and we could get the results before Christmas.

Our second option is to do the re-biopsy and re-vitrify them. Instead of doing FISH analysis for only 13 & 15, they could also do aneuploidy screening (14, 16, 17, 18, 21, 22, X, and Y chromosomes). Because of my age, she said that I am not at an increased risk to produce eggs that have an abnormal number of chromosomes. Dr. Schoolcraft and Dr. Katz-Jaffe both agree that screening for aneuploidy (14, 16, 17, 18, 21, 22, X, and Y chromosomes) in addition to the translocation may reduce the number of normal embryos that would be available for transfer. As with any PGD (FISH and CGH), it is only 90% accurate and, therefore, it is possible that a normal embryo could erroneously be scored as having aneuploidy. They don’t want to risk that. Their goal is to eliminate the embryos with an unbalanced translocation, thereby preserving the embryos that are normal for the translocation and offering them for transfer.

Our third option is to do nothing and take our chances with the transfers. I asked her the consequences of transferring aneuploid embryos. Embryos with trisomy 13, 18, and 21 all could result in live-births; however, babies born with trisomy 13 and 18 would die within the first couple of weeks of life. Abnormalities with 14, 15, 16, 18, and 22 would always result in a miscarriage.

Before we decide what to do, I want more information on the 8 CGH abnormal blasts. Do all 8 have the translocation? If so, is there a pattern as to what other chromosomes are abnormal with the translocation? I still don't really understand why the 7 blasts had no results. She said that it has nothing to do with the embryos but with technology instead. But she said that CGH could screen for translocations. She said that ours is the first case using CGH to screen for translocations. I guess I'm just confused, just so confused.

8 comments:

Heavy heart said...

oh Linda.. life can be a bitch sometimes..just hang in there..I really feel for you but just dont know what to say to make you feel better..(hugs) and prayers..HH

DAVs said...

Linda
My mouth is just agape over this. I am so confused too...to me it seems like it should be able to be more exact than this. I feel your frustration, and boy do you have ever right to be frustrated. Frustrated is an understatement!

I think you're smart to want to know all the specifics about the 8 definitely abnormal embryos. That should help guide you as to your next steps. And listen to the experts of course...and also, listen to you and DH's hearts. I'm thinking of you and sending you lots of hugs.

The Kyler said...

Lifes not fair!!!!! I know you are very confused and upset right now, but stay positive. I know it probably makes it harder having 3 different options, but follow your heart and of course whatever the doctors think is best. I will be praying for you. Sending you a great big HUG!!!!

Sue said...

Oh, that just isn't right! It's like they gave you a choice between A and B and you ended up with C, not ever knowing it was an option! I am so sorry for these confusing results! I know you and your DH will make the decision that is right for you. Praying for your little embies and your family.

kayjay said...

Oh Linda...I'm so sorry CGH has confused the issue rather than clarify it. You were supposed to get more answers, not end up with more questions. Life is so unfair sometimes. I don't have any words of wisdom for you unfortunately but I wanted you to know that I'm here for you as you face this difficult decision.

mlg- believe N miracles said...

Linda
I wish I could be of more help, I think you are asking all the right questions. You are entitled to better answers than what they are giving you. I know the wait must be difficult. I agree with everyone, just listen to your heart, you will make the right choice.

Nikki said...

Linda - firstly I'm so sorry! Big hugs to you!

I agree - I think you're asking all the right questions, and since CGH is a newer technology (yours being the first time they are using it to test translocation), it definitely would have limitations. I wish they had some history where they could check and see what the outcome was.

We have always been told to not do the aneuploidy testing as well - because of the false positives. Our RE here, as well as Dr. Schoolcraft have said that to us. We are testing only for DH's 2 affected chromosomes through FISH.

However, I think it would be prudent for you to check the details of the 8 abnormal blasts and see if there is a pattern there. If so, maybe testing for an additional chromosome or two would be helpful.

God, this is not easy - I hope you get some answers and some good news soon.

Christi said...

I'm so sorry for your confusing results, not an option that you were prepared for. You will be in my thoughts and prayers while you make your decisions.