@ssag Still nothing! This is totally aggravating. I'm being a pest now and have decided to call the genetic counselor every hour. I normally don't do stuff like that but I need those results to move forward.
@ssag Well, after 5 voicemails I finally got a call back. The FISH results from the amnio are positive for Trisomy 18. The ultrasound shows the entire abdominal cavity outside the stomach. Also, one side of the heart is significantly larger than the other side of the heart. Thank you all for your well wishes, prayers, and kind words during these past couple of weeks.
@arcastro I’m so sorry to hear this. It’s all so heartbreakingly unfair. I will be thinking of you, and I hope you know that all of us support you, whatever you decide to do.
TW: 1 infant loss 8/17: Our daughter was born 8/18: Our daughter kicked open heart surgery ass 2/19: We lost our son to Prader-Willi/Paradoxical Vocal Cord/ Noonans at 6wks old 4/26/2020: EDD for baby #3!!!
@arcastro it breaks my heart to read this. I’m sorry you had to chase so hard to get these tough results. Do you know what the next couple weeks look like for you yet? Are you waiting for the karyotype or proceeding with your termination from here? i don’t want to offer the wrong words of condolence because you’re the one ultimately going through this nightmare; but I know if I had bad results I wanted it to be over as quickly as possible. If you feel up to continue sharing the rest of your journey through the process, I know everyone here will stay right along with you to listen and offer support. wishing you strength and peace.
So sorry @arcastro that you are going through this. Thinking about you, and hoping you find strength in whatever the next steps are. Be kind to yourself
@ssag We've chosen to terminate. Based on the ultrasounds and my own medical conditions it's the best option for us. I really wanted it resolved this week, but unfortunately it looks like it's going to drag on for a bit longer. I'm hoping my own doctor is able to do the termination, but she is having to wait to get permission from the hospital and confirmation from the perinatal group that I see that the baby's conditions are incompatible with life.
I went to a local clinic that performs abortions to have an initial consultation (my state's law requires that you have an initial consultation and then wait 24 hours before you have the procedure done) so that I would have that part of it done and could go see them as a backup if my own doctor does not receive permission to perform the termination. However, after going to the clinic I'm concerned because the main drug they use is contraindicated for one of my own medical conditions (ulcerative colitis.) Because I'm already worried that the stress of all this and the extreme change in hormones will cause me to go into a flare, I don't want the added concern of a drug causing a flare-up. Sooo, I'm waiting and hoping to get word from my doctor that she will be able to do the procedure. Hopefully we'll hear something next week, but they may want to wait until the full results panel comes back from the amnio. I'll keep you all in the loop, but I realize this has gone sort of past the origination of this post's purpose, so I won't post here if people prefer that or it's not allowed under the board's rules.
Thank you again for all the well wishes during this time. Luckily I have a wonderful support system in my family, friends, and co-workers, but it also helps to have you all here wishing me the best.
@arcastro I'm so sorry you're going through all this. I hope your doctor is able to receive the permissions so that she can help you through this, and I hope you get the answers you need in terms of a drug that isn't contraindicated. I'm glad to hear that you feel well supported by your friends and family, and I hope you can continue leaning on them. I will be here to listen and support you for as long as you continue to find this board useful, and I hope you continue to feel supported posting here. I'll be keeping you in my thoughts.
@arcastro it’s maddening the hoops you have to jump through for this. I read a couple articles/blogs over the past couple weeks trying to familiarize myself more with the procedures and it can be overwhelming. Our genetic counselor offered a contact if we’d chosen to terminate, a social worker who worked with couples who’d chosen to terminate wanted pregnancies. Hope you have similar support options available if you want it. Please keep posting here; this thread contains your story so I think it makes the most sense. If anyone disagrees or requires a TW, please speak up. I know I like having somewhere to talk while I’m waiting for answers and dealing with the worry. I think you deserve to have the communal support, especially when things are difficult and complicated. If it’s helpful to you at all, keep writing. Any chance you’ll be able to have the procedure next week?
@arcastro I’m so sorry you have to go through this. I can’t even imagine what you must be experiencing but I hope it all goes quickly and smoothly so you can move onto healing yourself. The last thing you need is complications from jumping through paperwork and procedure hoops. I echo PPs sentiments in that we are all here to support you and please continue posting here if you want to. We will be here for you as much as possible through this difficult journey.
@arcastro please don’t think you’re not welcome in this thread! We all want to support you, you can post here as much as you want. Anyone deciding to read a thread about genetic testing are aware there can be all sorts of results and difficult choices. This is a safe space for you and anyone in your situation, you belong here for as long as you want to.
DS born 2/18/2019 DD born 4/1/2023 Baby #3 EDD 11/21/2024
@arcastro - We're here to support you - if you'd rather create your own thread, that's fine too (and if anyone gives you shit, they can deal with me too). Nothing about this can be easy and you'll always be welcome here. I am still active with my F16 group even though I lost that baby and they were of great support to me after my MC and they celebrated with me when I got my rainbow baby. You're always welcome here and we're here to be a sounding board, let you vent, whatever you need.
@arcastro glad to hear you have a strong support system! I am so sorry you have to go through this. Hopefully your doctors office can look at the results of everything and make the appropriate decision for you guys. Many prayers to you guys during this tough time
I started this post, So I feel more than comfortable saying you belong here and should continue your journey with us as long as you feel comfortable! Prayers for you, baby and DH.
Thanks everyone for your kind words and support. Just a quick update to say I'm still waiting. I spoke with my doctor Tuesday night and she said that we have to wait for the full amnio results and then a second opinion from my high risk pregnancy group. I'm hoping to get the full amnio results back this afternoon or tomorrow, but we'll see.
@ssag have you received your full amnio results yet?
yes, I got my amnio results back. Negative for mosaic trisomy 13. Unfortunately the amnio picked up something else, a small supernumerary marker chromosome, an extra piece of material. Since last Wednesday we’ve started a whole new round of purgatory, waiting 2-4 weeks for micro array results. It sucks, it’s unreal, feels totally unfair after “passing” the first round of distress. We likely won’t know our results till the end of September and even then they may not be definitive.
if you’re still reading here, please keep me posted on your progress. Thinking of you.
Re: Genetic Testing
btw how did your baby look on the amnio ultrasound?
The ultrasound shows the entire abdominal cavity outside the stomach. Also, one side of the heart is significantly larger than the other side of the heart.
Thank you all for your well wishes, prayers, and kind words during these past couple of weeks.
BFP 6.8.2018 EDD 02.18.2019
1 infant loss
8/17: Our daughter was born
8/18: Our daughter kicked open heart surgery ass
2/19: We lost our son to Prader-Willi/Paradoxical Vocal Cord/ Noonans at 6wks old
4/26/2020: EDD for baby #3!!!
Do you know what the next couple weeks look like for you yet? Are you waiting for the karyotype or proceeding with your termination from here?
i don’t want to offer the wrong words of condolence because you’re the one ultimately going through this nightmare; but I know if I had bad results I wanted it to be over as quickly as possible.
If you feel up to continue sharing the rest of your journey through the process, I know everyone here will stay right along with you to listen and offer support.
wishing you strength and peace.
DD born 4/1/2023
Baby #3 EDD 11/21/2024
I went to a local clinic that performs abortions to have an initial consultation (my state's law requires that you have an initial consultation and then wait 24 hours before you have the procedure done) so that I would have that part of it done and could go see them as a backup if my own doctor does not receive permission to perform the termination. However, after going to the clinic I'm concerned because the main drug they use is contraindicated for one of my own medical conditions (ulcerative colitis.) Because I'm already worried that the stress of all this and the extreme change in hormones will cause me to go into a flare, I don't want the added concern of a drug causing a flare-up. Sooo, I'm waiting and hoping to get word from my doctor that she will be able to do the procedure. Hopefully we'll hear something next week, but they may want to wait until the full results panel comes back from the amnio. I'll keep you all in the loop, but I realize this has gone sort of past the origination of this post's purpose, so I won't post here if people prefer that or it's not allowed under the board's rules.
Thank you again for all the well wishes during this time. Luckily I have a wonderful support system in my family, friends, and co-workers, but it also helps to have you all here wishing me the best.
Our genetic counselor offered a contact if we’d chosen to terminate, a social worker who worked with couples who’d chosen to terminate wanted pregnancies. Hope you have similar support options available if you want it.
Please keep posting here; this thread contains your story so I think it makes the most sense. If anyone disagrees or requires a TW, please speak up.
I know I like having somewhere to talk while I’m waiting for answers and dealing with the worry.
I think you deserve to have the communal support, especially when things are difficult and complicated. If it’s helpful to you at all, keep writing.
Any chance you’ll be able to have the procedure next week?
*TW*
TWIN LOSS 7.2.15
BFP 9.7.15 CP
BFP 12.31.15 MC 2.28.16
BFP 10.14.17 CP
BFP 3.10.18 D&C 4.13.18
DD born 4/1/2023
Baby #3 EDD 11/21/2024
BFP 6.8.2018 EDD 02.18.2019
Like a few others mentioned, please know that you are absolutely welcome here for as long as you feel comfortable.
MMC 2.12.11 @ 8w
PVM 5.8.12
GWM 3.17.15
RPM 2.21.19
@ssag have you received your full amnio results yet?
any update since you wrote?
yes, I got my amnio results back. Negative for mosaic trisomy 13.
Unfortunately the amnio picked up something else, a small supernumerary marker chromosome, an extra piece of material. Since last Wednesday we’ve started a whole new round of purgatory, waiting 2-4 weeks for micro array results. It sucks, it’s unreal, feels totally unfair after “passing” the first round of distress.
We likely won’t know our results till the end of September and even then they may not be definitive.
if you’re still reading here, please keep me posted on your progress. Thinking of you.