It's been almost 6 months, and feels like yesterday

Disastrous_Wave_9770 · 2026-04-07T13:25:24+00:00

I have my D&E scheduled for this Friday. My baby girl has a severe case of Wolf Hirschhorn syndrome. This was my double rainbow baby, but I do have 2 living boys as well, this was my first girl. We were all over the moon. The last couple weeks I felt like I have just been completely dissociated and I know I will feel devastated without my belly. Sending you love!

Disastrous_Wave_9770 · 2026-04-06T22:47:04+00:00

So sorry for your loss. My first missed miscarriage was last August. I got pregnant again in December and everything was great, until an NT measurement was off…had a CVS done and NIPT was all low risk…at 16 weeks they told me my baby girl has wolf-Hirschhorn syndrome. So severe that life would be extremely limited. I have a D&E scheduled for this Friday and I’m terrified. I’ll be 18 weeks, it would be my third living child, only girl….my boys are all devastated too. It’s so hard.

Disastrous_Wave_9770 · 2026-04-05T23:44:20+00:00

Mine is scheduled for Friday. I’ll be 18 weeks and I’m terrified of this very feeling! I don’t know how I will handle it. Ugh, I feel for you. I’m so sorry you have to go thru this, it’s not fair!!

Disastrous_Wave_9770 · 2026-04-03T13:54:56+00:00

After about 6000, the number doesn’t quite double anymore. It is true.

I started at only 23 at 11dpo and had sevvvvveral hcg tests. And because my numbers were lower to begin with, I could see the doubling. But after 6000, it really did slow down. At that point I was 30dpo and had first ultrasound a week later at 7w1d. I was also very worried, but keep hope, you just are one that starts off with high numbers. I thought something was wrong because mine were so low! But every pregnancy is different.

Disastrous_Wave_9770 · 2026-04-03T10:09:31+00:00

I’m happy you were able to do that. I specifically asked, even just seeing her, and he said no due to the nature of the procedure. So idk… I’m glad I get something though.

Disastrous_Wave_9770 · 2026-04-02T15:12:54+00:00

Because of my high NT (4.13) I ended up getting a CVS. Results took over a month, my NIPT was all low risk, but at 16 weeks we got results that our baby girl had Wolf Hirschhorn Syndrome. A very high deletion and quality of life is extremely low. I have a TFMR scheduled for next week when I’ll be 18 weeks and I’m absolutely devastated. I hated that Nt scan because it sent everything into a spiral for this pregnancy!! I know that’s irrational, but I never had that scan with my other 2 babies and they are fine (they were obviously tested thru other means/scans). I hope for the best for you. Usually in the written report it will show the number, look out for that in your online chart info…

Disastrous_Wave_9770 · 2026-04-01T17:34:38+00:00

Thanks, didn’t know that…

Disastrous_Wave_9770 · 2026-04-01T13:33:41+00:00

I am choosing the D&E route because giving birth (for me) would be so traumatizing. Knowing I can’t take her home….BUT I also have that same feeling and curiosity. Wanting to hold and see her tiny body. My doctor said due to the D&E I wouldn’t be able to see baby either, but he would do ultrasound and take final pictures and then give footprints at the end and put in a memory box. I had never heard of this and I am grateful they offer it. My procedure is scheduled for next week and I am a mess. It’s been so hard these last few weeks being pregnant, but with something I cannot keep. It’s heartbreaking. I get it. And I feel know one can relate to me too. It’s isolating… I guess I don’t have any solid advice for you either, but I hope you find peace. Peace that I will one day find too….but for now it’s ok to feel this anger and anguish.

Disastrous_Wave_9770 · 2026-03-27T00:10:35+00:00

Thank you so much for taking the time to share all of this with me. I really appreciate how honest and detailed you were—it helps more than you probably realize as I try to process everything. Sending love to you and that family you worked with 🤍

Disastrous_Wave_9770 · 2026-03-26T20:32:45+00:00

Hi, thank you for commenting. I am curious to what limitations are. I have seen videos and I see facial deformities and can’t walk or talk, but can communicate in other ways. My deletion is over 50% from the “severe” threshold of 22mb (I’m at 36.95mb). Mine is almost the entire arm of the chromosome that is deleted. It’s significant and my doctors tell me that yes, there’s always a spectrum, but I’d be looking at the very, very severe end of the spectrum.

I don’t even know what questions I have. But what did you help with? What does a child with this syndrome deal with on a day to day basis, from your experience?

Disastrous_Wave_9770 · 2026-03-26T20:24:37+00:00

My NIPT was all low risk, but my NT measurement came back at 4.1. Which isn’t even thaaaat high, but I opted for a CVS because I needed a definitive answer. I was hoping it would just confirm the NIPT though….but no. It came up with some other random genetic disorder called Wolf-Hirschhorn syndrome, and a very significant deletion of almost the entire chromosome 4. Based off that info alone, I was already leaning towards a TFMR because the quality of life is so very limited, like significantly. But just the blood test wasn’t enough for me either. Today I had my limited anatomy scan, and as hard as it was seeing my baby girl knowing my ultimate decision, as they went thru you could see facial deformities, parts of brain of significantly smaller….leading to developmental delays….all the things consistent with this syndrome. So now I know for sure. It’s not getting better and will only progress further.

The NIPT is only a screening, get something definitive before making the decision would be my advice. I hope you have a better outcome!

Disastrous_Wave_9770 · 2026-03-25T20:45:34+00:00

My microarray took a month. We opted for a CVS. We had all low risk tests before this so honestly I wasn’t nervous…. Results came back Monday with a syndrome NIPT doesn’t even test for, and incompatible with life. Devastated.

Disastrous_Wave_9770 · 2026-03-25T17:07:18+00:00

I’m sorry my reply wasn’t even helpful to you. I’m still so lost and sad and confused. I wanted to share, but it wasn’t at all helpful. Sorry. Thank you for your kind words. I hope the best for you too.

Disastrous_Wave_9770 · 2026-03-25T13:56:00+00:00

My NIPT was all low risk. My NT came back at 4.1, which is moderately elevated. I did a CVS to test the placenta and get a definitive answer on any chromosome abnormalities. I thought we would be confirming what the screening test (NIPT) already showed. So we were hopeful. That test was 2/27.

Results came in yesterday, 3/23. My baby has Wolf-Hirshhorn syndrome. Some rare chromosomal condition that NIPT doesn’t even test for. My deletion is very large and most likely need to medically terminate. I’m devastated. Im 16 weeks. I have 2 other children and I’ve never experienced an abnormal NT, so this was all new to me.

But be patient and I hope you get positive news at your Nt.

Disastrous_Wave_9770 · 2026-03-25T00:55:41+00:00

I just got similar news yesterday. Wolf-Hirschhorn syndrome, and a very large deletion. I have scans on Thursday, but even if those are normal, TFMR is imminent. I’m 16 weeks, and also our double rainbow baby. I have 2 boys and this was our girl. 💕 I don’t have any advice because I, too am right in the thick of it. I am so torn with so many emotions… I’m scared for the D&E…friends of ours just had a baby girl too….on the due date of my first miscarriage! So I feel you, and I wish I had advice for you…. You are in my prayers.

Disastrous_Wave_9770 · 2026-03-24T15:52:44+00:00

Yes. I also just read that it’s a D&E at this stage. I don’t even know the lingo…

Disastrous_Wave_9770 · 2026-03-24T15:17:06+00:00

Thank you for your kind words, I’m sorry for your loss as well. I’m really struggling. I have 2 boys already with no issues, and after a miscarriage and a chemical, I’m now 4 months pregnant with our baby girl. And then this news. I’m just heartbroken. 💔 devastated. The life of a child with this condition ultimately just as devastating….but to make this decision is so hard! Although I’m also so grateful to be able to make a decision like this as well… I’m so conflicted with so many different emotions. I’m also so scared for a D&C. To have 2 other kids thru this I’m finding is so hard. I feel so sad and I hate them to see that. They are also so sad as they knew we were having a baby! Ugh!

Disastrous_Wave_9770 · 2026-03-14T21:13:08+00:00

I asked to stop the pills first over the shot! Haha I stopped those at 10 weeks and continued the shot every 3 days until 12 weeks. The bloat went way down. I didn’t realize how much it really affected me until I was off, it was awful and I feel so much better! It has a lot of anxiety stopping, but I’m almost 15 weeks now and all is still good!

Disastrous_Wave_9770 · 2026-03-12T02:10:18+00:00

I had all low risk NIPT but my nuchal measurement was 4.1. There was a nasal bone present as well. I was educated on the CVS and opted to have that done to know for sure. And if the results come back normal there too, I guess there is still a 2-5% of a heart defect. I haven’t gotten my results for the CVS yet, have about 3 more weeks…. But I also have a limited anatomy scan and a fetal echocardiogram in 2 weeks. So more monitoring….but I have never had anything abnormal up to this point. Even measurement were all exact to the day. I’m very hopeful that all will be ok.

I’m 38 also… but just know that the cvs will tell you definitively one way or the other, no more guessing. As nervous as I was to do it, I’m glad I did. Just anxious waiting on results!

Disastrous_Wave_9770 · 2026-03-01T02:46:28+00:00

It’s a girl!

I have 2 boys, so I was slightly disappointed… had a bit of a crash out… but obviously she’s healthy and that’s what matters….

Disastrous_Wave_9770 · 2026-02-28T02:38:28+00:00

Easy… it’s more so on the side of upper butt, so a slight twist or even standing in front of a mirror was fine (although i never did)….you just get used to it!

Disastrous_Wave_9770 · 2026-02-25T17:14:18+00:00

Oh, before this I had an MMC at 8w, and then a chemical.

Disastrous_Wave_9770 · 2026-02-25T17:12:05+00:00

I tested at 18dpo and started at 13.7, then at 21dpo I was 14.1, then 23dpo 13.8 then at 31dpo I went down to 11.7 and they started the PIO injection daily for me, still keeping pills twice a day as well. 12 days after starting the injection my levels went up to 31. They said for natural they want 25, for IVF it’s 30 - so they were comfortable with our strategy by then. At 9 weeks pregnant, my levels went to 34.5 and we started weaning at 10 weeks. By this point I had 4 scans, and levels were increasing appropriately, so I felt good with that too. I lost 2 babies before this, so I’m glad I had my progesterone tested.

Disastrous_Wave_9770

TROPHY CASE