Potential Setback :( (long)

2MamazInSeattle · May 2013

So when we had our autopsy for our loss, it was clear the cause of death was an umbilical cord clot, rare and a fluke, it's not likely to happen again and basically is just bad luck.

However - in the midst of that, we also did a karyotype of the baby. He was perfect except there was a small 'find' in terms of a chromosomal deletion on one of his strands of his second chromosome. In other words, one of our donors is essentially a carrier of a small deletion on Chromosome 2. This area impacts kidneys, and causes some pretty gnarly physical and mental conditions that no one would want to sign up for. However, BOTH donors would have to have the EXACT same deletion for any affliction to show up. In the case of our lost baby, he would not have had anything wrong with him - but would have been a carrier of this deletion - which apparently many of us have small deletions like this.

The good news is for both donors to have the exact same deletion is like 1 in a million kind of odds. Lots of people have a small deletion, it's just super rare they happen to mate with someone who has that same deletion.

So last night my RE got around to reading everything now that we finished up my adhesion surgery and I am on track to begin my 'real' FET cycle on the 18th. She called last night and said "Well, I don't think we should call this 'nothing'..." and had a few recommendations for us.

So, first step is testing our egg donor, who happened to be in the clinic for a blood draw for something else earlier this week, and my RE said they took her sample and already sent off a karyotyping request on her (their expense) to see if she is the carrier of this deletion. They also notify CCB so they can reach out and hopefully do the same testing on our sperm donor. Of course we all know sperm donors come and go - so it's not a sure thing they will get that test done/have that result. This is the bummer I guess of using two donors - if it was my egg or known donors, we could just test easily and know.

So - if our egg donor is negative, we basically know that the same thing could happen which we are ok with - our baby could be a carrier of this deletion (25% chance) as the sperm donor would be the one who passed it on. It is also possible that it was just a cosmic thing that happened when that egg met that sperm and would not recur. The bad thing would be if our egg donor is a carrier, then we have the risk that our sperm donor has the same issue - in which case we'd have to look at waiting for his testing to come back, or, PGD our embies which I'm not even sure how to go about since they are already frozen.

The second recommendation was to have my further tested for clotting factors/issues. So I had a blood draw today to get that going. And finally, she said we should talk to their genetic counselor regardless just to understand the whole thing better - esp. if our donor does come back as the carrier.

Oy. Something tells me it will all turn out ok. But it is just stressful to have another potential wrench in our plans, but of course, we don't want to knowingly bring a little life into the world only to suffer. Our MFM didn't seem to think a thing of it; but I suppose our RE thinks differently since they provided the egg donor. They said if our egg donor is the carrier, they won't use her anymore - she's done 5 or 6 cycles and loves doing it, so I hope she's not the problem! She has made many people happy!

Sorry, long ramble for a Friday...

LittleLady77 · May 2013

That's a lot to process. FX she comes back all clear and you two are off and running but I can understand why you're frustrated right now. This whole process takes so long and any set back is devastating!

BeckyP005 · May 2013

Aww man I'm sorry to hear this. FX that you get good results and your able to move forward! Big hugs!

happywifemomofone · May 2013

Hope that your testing comes back in the clear for both your clotting factors and to dind out that donor is not a carrier for this chromosomal issue. Hoping that results come back in a timely manner and you will be able to gear up for your planned FET. Any setback in the process seems like forever, we are all rooting for you to be able to move forward when all the pieces in the puzzle are complete. GL!

udc22 · May 2013

Hang in there it will all workout. FX.

JM1977 · May 2013

I'm sorry you are going through this. It sounds like you are receiving excellent and very thorough care, and I hope it will all come out alright and won't cause a delay. (((HUGS)))

Lacyj67 · May 2013

Geez what are the chances of that ... Both of them possibly having that deletion. Hopefully just a bout if bad luck and will be fine next time around GL!

stinkerbell6879 · June 2013

Hang in there! And sending T&P'S that everything turns out ok for you to move on to your FET.

DoublePortion · June 2013

FX it was just a fluke! I hope the situation works out quickly and everything is back on track.

ArgyleBride · June 2013

Hi 2Mamaz! You may remember that my field is science and engineering. I do not want to be flippant about your problem, worry is always going to happen when it comes to your kids.

However, I have to say that based on your description, I would not worry for 2 seconds about this. We all have deletions and genetic hiccups, a handful of them at least. I am frankly surprised they're going to test your donor, let alone exclude her. Odds are ridiculously in your favor. Let's hope she doesn't, just so you can have that peace of mind and the docs can drop this. Best wishes!

BabyVDM · June 2013

Hi 2Mamaz.

Just wanted to let you know that when our Donor went through the genetic testing it came back that she was a carrier of a very rare genetic disorder. So rare I can't remember the name. DH was tested and proven not to be a carrier. We chose to stay with our donor as there was no risk to any of our potential children (except that they might be a carrier).

Don't worry too much, I hope everything moves forward in your favour and you can stick to your calendar.

Km672 · June 2013

Hey Lady,

I am so hoping this does not change your current plan. FX your donor tests neg for being a carrier and you can move forward asap!

I would be nervous too, but the chances are really slim that their is a problem.

I agree with everything you have said and would most definitely be diligent with testing, but try to keep in mind the worst case scenario is highly unlikely!!!

Keep us posted!

liz4paws · June 2013

I'm super late to this post....sorry about that.

But I want you to know I'm thinking about you and have my fingers crossed that this turns out to be nothing. As PP have said, odds are majorly on your side. But I totally get the worry. Try to focus on the positive best as you can and keep us posted. I'm so excited for your next transfer.

MrsT4 · June 2013

liz4paws:
I'm super late to this post....sorry about that.
But I want you to know I'm thinking about you and have my fingers crossed that this turns out to be nothing. As PP have said, odds are majorly on your side. But I totally get the worry. Try to focus on the positive best as you can and keep us posted. I'm so excited for your next transfer.

Ditto all of the above!! If it makes you feel any better, just think that the majority of people that conceive without medical help don't get tested for a fraction of what some of us have been tested for. For example, we elected to have my husband and my egg donor have the Counsyl panel run on them and b/c they check for so many things, there was bound to have something pop up. Sending T&P's your way for getting a quick resolution, so that you can cycle again very soon!!

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