I did just get the call that the first results of my amnio are back and those are normal. So no trisomy 13, 18, 21, or any sex chromosome issues. I wasn't really worried about these since we had already been tested for this through bloodwork, but still nice to hear the confirmation.
@sparklingdiamond How is everything going? I saw Kelly post something sort of vague on Charly’s CDH FB page (I’m not sure if it was about you and your LO or not) but I’m thinking of you and sendinglots of positive vibes your way!
Me (33). DH (37). DD (2.2012). MCs x4. After 4 years & 7 months, due 4.2018!
@Mattel Yea that was about me. I posted about this in the randoms thread a bit, but forgot to post on this thread.
So the amnio showed that she has mosiac trisomy 15 (which is super rare), which means that some of her cells have an extra copy, but some don't. I was originally told that the lab would tell me a percentage of normal vs abnormal cells in the sample and that the number can sometimes correlate with how well they will do. But there was a mixup and that's actually not what they are doing. Instead, they are doing a test to check for translocation of chromosomes, which would help predict if this would affect future children, but wouldn't really tell us anything about her condition. I am actually super glad I am not going to be getting this percentage they originally spoke of because it wouldn't really mean anything. It wouldn't tell us which organs might or might not be affected or how much.
I spoke with a genetics counselor over the phone on Friday and asked her a few questions. She said most pregnancies with trisomy 15 end up with a miscarriage, so I choosing to believe that the fact that she is still here is a good sign that she isn't affected too badly. I am honestly more concerned about the CDH part of it than the trisomy 15 part. Hoping that the only issue we have is the CDH. The problem with this diagnosis is we really just don't know what will happen when she's born. So it gave me zero answers and just a lot more questions.
@sparklingdiamond I'm hoping and praying that these remaining weeks pass by quickly, reasonably stress free and that your little girl stays healthy in there. It is wonderful that you have found a supportive team to help you through this.
@sparklingdiamond I am just so blown away by your courage through this process, you are really navigating some hard waters and doing it with such grace. Jasmine may be coming into this world with some headwinds, but she has an incredible mommy steering her to safety. You are in my thoughts.
@sparklingdiamond I can't imagine how hard it is with all this waiting and uncertainty. I keep thinking about you and your sweet baby girl. I hope the dr. gets back to you soon today.
I am still rooting for you all SO hard. Please let us know what your FL doctor thinks (you mentioned he was unsure about doing the CDH surgery). The fact your Jasmine is developing on pace and is so far in HAS to mean that she has a really good fighting chance.
The other thing I tell myself is that if she were severely affected, wouldn't there be other signs that show up on the u/s? I mean she really only has the CDH and then a minor heart issue (I mean there is a compression issue on the left side of the heart, but that goes along with CDH). The only other thing that does concern me is that the MRI showed the lung tissue looking "not normal" whatever that means. But I had a CDH mom tell me her daughter's lung tissue looked cloudy and hers was the first that looked like that (that Dr Kays saw) and she is okay today. So just trying to remind myself that different doesn't automatically equal bad or nonworking.
@sparklingdiamond man, seems like tests are good, but sometimes provide too much info that doesnt add up, and you are left with nothing. I would try calling Dr. Kays again today, maybe he will get back to you sooner?
I just spoke with Dr. Kays. So I guess the lab DID run a test for percentage, so not sure why I was told they didn't...it came back with an estimation of 20% of the cells are abnormal vs 80% normal. Which to me is good! Anything 50% or over is usually pretty bad. I told him the number sounded okay to me and he said he feels a lot more comfortable with this number too. He said he spoke with the genetics person there and was trying to get an estimate on her chances of being affected or not. They agreed it's hard to predict, but that she probably has about a 1/3 chance of being severely affected by the trisomy and about a 2/3 chance of it being minor or not at all. His biggest concern is obviously the brain since trisomy can affect the brain and also being on ECMO can affect the brain. So he just wants me to be prepared for those possibilities, but still thinks she has a chance.
He will still take the case. I told him I want to give her every possible chance and don't want to just give up on her. So my plan is still the same. We will go there and give this our best shot. I told him I know we are dealing with even more unknowns, but they are just that...unknowns. She could thrive and do amazing. I have to give her that chance.
Even with CDH, you never know how they are going to react until they are born. One born with him recently had a low chance of needing ECMO, but ended up on ECMO anyways. So it just goes to show you can't predict it. I feel so much better after speaking with him.
That is great news! I did a bit of online reading, and I have seen women post about low percentages like yours and had children go on to show no ill effects. I am glad Dr Kay wwill take her and help you fight for her
Such a great update!! Hoping you are a little energized and more hopeful after talking to him as it sounds like the most positive news you’ve gotten in a while. So glad he is still going to take on your case and you can proceed how you were planning to. I know we’ve all said it a hundred times but Jasmine is so lucky to have you advocating for her every step of the way! Continuing to keep you guys in my thoughts.
I am so happy you got some good news, @sparklingdiamond! I hope this helps put your mind at ease somewhat; I would imagine that this all must be so stressful for you and your family (but especially for you). We are all on your side and will continue to be thinking of you and rooting for you!
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I'm so happy to hear that Dr. Kays will still be taking your case and I'm cheering so hard for both you and Jasmine, @sparklingdiamond. Your grace and strength through all of this is just astounding. Your baby girl is so lucky to have you as a momma.
I'm so glad to hear it's a low percentage! And that the doctor is still going to proceed with your plan. You are doing an absolutely amazing job of doing everything you possibly can for this LO. You are such an incredible mama.
@sparklingdiamond So glad to hear this news! I'm so glad you are feeling better after speaking to him. Sounds like you got some more insight and answers questioned.. I will continue to think of you and your family!
It sounds like you've got a good doctor you're working with. You are really amazing. You're being realistic but full of hope. That's not an easy tightrope to walk. You are doing fantastic. Thank you for keeping us updated. So many people have your in their thoughts and prayers.
So happy for the positive news @sparklingdiamond! And can I just say, you inspire me so much with every post. Your courage and fierce mama love is incredible!
Re: CDH- Update
Me (33). DH (37). DD (2.2012). MCs x4. After 4 years & 7 months, due 4.2018!
So the amnio showed that she has mosiac trisomy 15 (which is super rare), which means that some of her cells have an extra copy, but some don't. I was originally told that the lab would tell me a percentage of normal vs abnormal cells in the sample and that the number can sometimes correlate with how well they will do. But there was a mixup and that's actually not what they are doing. Instead, they are doing a test to check for translocation of chromosomes, which would help predict if this would affect future children, but wouldn't really tell us anything about her condition. I am actually super glad I am not going to be getting this percentage they originally spoke of because it wouldn't really mean anything. It wouldn't tell us which organs might or might not be affected or how much.
I spoke with a genetics counselor over the phone on Friday and asked her a few questions. She said most pregnancies with trisomy 15 end up with a miscarriage, so I choosing to believe that the fact that she is still here is a good sign that she isn't affected too badly. I am honestly more concerned about the CDH part of it than the trisomy 15 part. Hoping that the only issue we have is the CDH. The problem with this diagnosis is we really just don't know what will happen when she's born. So it gave me zero answers and just a lot more questions.
Me (33). DH (37). DD (2.2012). MCs x4. After 4 years & 7 months, due 4.2018!
He will still take the case. I told him I want to give her every possible chance and don't want to just give up on her. So my plan is still the same. We will go there and give this our best shot. I told him I know we are dealing with even more unknowns, but they are just that...unknowns. She could thrive and do amazing. I have to give her that chance.
Even with CDH, you never know how they are going to react until they are born. One born with him recently had a low chance of needing ECMO, but ended up on ECMO anyways. So it just goes to show you can't predict it. I feel so much better after speaking with him.
Married: 10/3/15
TTC: May 2017
BFP: 7/20/17
EDD: 3/29/18