u/Winter-Chipmunk5467

Just wanted to share my experience, hoping this will maybe be helpful to someone. I had read a lot of mixed things about reading the pathology report, people saying they don’t think patients should have access to it, that it crushed them emotionally to read. So I was nervous to read it but also know myself and I knew if the information was there, I was going to read it.

I am so glad that I did. He was so much sicker than we knew. We knew his heart, brain, and skull had abnormalities. We knew the likelihood of development delay was very high, but of course had no way of knowing the severity for certain and that was hard for me. The pathology report revealed other abnormalities we had not yet been aware of. His arms, his feet, his spine, his facial features, his adrenal glands. He was very sick. I am still devastated beyond belief that this happened and so angry with the universe but I feel like maybe I can stop being angry with myself. I know his quality of life would have been so poor. I know that we did the right thing.

Previous post: https://www.reddit.com/r/NIPT/s/Z7let2K01H

A week ago we found out our son had a large VSD and held out hope that may be the “only” issue. Unfortunately that was not the case.

We got the results back from the microarray today. Our baby has an incredibly rare condition called terminal 6q deletion syndrome. Less than 100 cases ever reported in medical literature. We had a better chance of winning the lottery than this happening.

A deletion can consist of a single change to the chromosome. Our son has 84 changes. Although this is incredibly rare and there is not much data to go off of, this almost certainly means a severe presentation of the syndrome. We have decided to TFMR.

I don’t know why I’m sharing this, I scoured for any and all information but truly this will probably not be helpful to anyone because the odds of it happening are near impossible. Just shouting into the void I guess. I would have been more likely to be struck by lightning and I wish that’s what happened. This situation is unbearable and something I would never wish on anyone. The pain is unimaginable. I’m so sorry to everyone else who is on a similar journey. This is a sick joke.

Thank you in advance for sharing your story and please don’t if you feel uncomfortable. I feel lost and not comfortable with the amount of information I was given and just trying to find information when I can. If you want to read my whole experience it is here https://www.reddit.com/r/NIPT/s/EVRvni02vA but I will give a synopsis too.

Today at 16w3d following an abnormal NT, the doctor is certain that our baby’s heart is abnormal. She did not say with certainty that he has ToF but that was the only condition she mentioned by name throughout the procedure. Our fetal echo will be moved up to this week.

She also said she had concerns about the baby’s head shape and brain. She said his head was slightly triangular shaped, and that she was seeing more fluid filled areas in the brain. She said she had “never seen a 16 week fetus present this way” and would not tell us any specific conditions on her radar. This is making me crazy. I feel like if I have a possibility, even if that is not 100%, I can start gathering information and thinking about how we want to proceed. I just feel lost. I don’t know how I can even think or make a decision when I don’t know what we’re even talking about. We did the amnio but I am confused what we are even looking for. If it was a genetic syndrome wouldn’t she have some idea of what it could be?

I guess at this point I am clinging to ToF because it is the one tangible thing I can actually research and wondering if anyone feels comfortable sharing if their child had other abnormalities beyond the heart and if so, what was the cause? Thank you for reading.

I am spiraling. The doctor said there’s a 97% chance that everything is fine but I’m still spiraling and just feel dead inside. Please tell me you’ve had a similar result and everything turned out fine. I’m just so angry at the world right now and if God takes this baby away from me I’m never trying again. I’m so sick of being in pain all the time. I don’t understand why nothing can ever just go smoothly.

That’s it, that’s the post. 💙

My daughter is 10 years old and I am 7w4d pregnant, so these children will be 10.5 years apart.

I keep hearing that the second birth is significantly faster than the first. Is this still true if there’s been many years between them, or does the body “reset”?

Hi,

We bought our daughter concert tickets to see one of her favorite bands at a large football stadium later this summer. We got her an extra ticket to bring a friend. I was very happy with the friend she chose because his mom has taken her on a lot of fun outings so I was happy to repay the favor. She asked him, he said yes, kids are excited.

I just realized I never thought the bathroom situation through. It will be myself and my daughter (females), with her friend (male). The kids are 10 so I feel like it’s pretty borderline if not way too old to bring a boy into the ladies room. At a less crazy venue like the mall or a restaurant or whatever I would just send him into the men’s alone, but with so many people everywhere I am so nervous about us all getting separated.

We plan to get there early so I will of course have them both go before it gets too packed, hopefully that will hold them over 😩 how would you all handle it?

A few days ago I read someone else share their success for their fourth IUI, and it gave me hope, so I am hoping that sharing this story gives someone else hope too 🫶🏼

Two mature follicles, 8.4 lining, 20.9 million sperm. Clomid and Ovidrel. This was very likely our last IUI attempt as we both were becoming down in the dumps that it’s pointless, however we had mixed emotions about IVF too. First of all we can’t really afford it and would be borrowing the money from my dad, which is a big ask for something that’s no guarantee. Second, I’m already overwhelmed with the constant appointments with zero scheduling flexibility for IUI and I understand IVF is significantly worse. So we were strongly considering heading that direction, but apprehensively…

Yesterday 11 dpIUI I took a test and it was veryyyyyyy very faint. Like I didn’t even show my partner because I think he would have said there was nothing. I also knew it could potentially be the trigger, but I have always had stark negatives by this point so I remained hopeful.

This morning? Clear positive. 😭🥹 no question about it. Significantly darker than yesterday.

Wishing everyone here all the best of luck no matter which direction this journey takes you!

4th and likely final IUI today. TWO follicles (first time ever for me), 20 million sperm… really hoping this one is the charm because I’m still not fully on board with IVF but feeling like that’s where this is headed

Best of luck everyone ❤️

4 year old basset hound woke up yesterday totally normal. Got up and took a walk. Came home, brought him in, I stayed out in the yard for about 20 minutes. When I came in I could tell something was wrong but couldn’t tell what. He was pacing, couldn’t get comfortable, and whining. This went on for about an hour and a half before I brought him to emergency vet.

ER vet ruled out bloat and urinary blockage and diagnosed IVDD by feeling up and down spine. The only thing that caused him to be reactive was manipulating his neck, so she diagnosed that as the issue.

We were sent home with medication protocol for 2 weeks- carprofen, methacarbamol, gabapentin, and trazadone. And limited activity for 2 weeks. However she did *not* say he should be crated. She actually said I could continue bringing him to daycare if the meds keep him sufficiently mellow. Everything I am reading says crate rest, and typically for 4-6 weeks, not 2… was I given bad advice? Or is his protocol shorter because his case is “milder”?

He is very very out of it on the meds and is pretty much staying stationary, but I am not sure if it will stay that way. Luckily my schedule in the summer is more flexible and I can stay home most of the day 3 days a week but typically I am gone all day Tuesdays and Thursdays and he must go to daycare (under normal circumstances) because his separation anxiety is so bad. He is not crate trained at all.

4 year old basset hound woke up yesterday totally normal. Got up and took a walk. Came home, brought him in, I stayed out in the yard for about 20 minutes. When I came in I could tell something was wrong but couldn’t tell what. He was pacing, couldn’t get comfortable, and whining. This went on for about an hour and a half before I brought him to emergency vet.

ER vet ruled out bloat and urinary blockage and diagnosed IVDD by feeling up and down spine. The only thing that caused him to be reactive was manipulating his neck, so she diagnosed that as the issue.

We were sent home with medication protocol for 2 weeks- carprofen, methacarbamol, gabapentin, and trazadone. And limited activity for 2 weeks. However she did *not* say he should be crated. She actually said I could continue bringing him to daycare if the meds keep him sufficiently mellow. Everything I am reading says crate rest, and typically for 4-6 weeks, not 2… was I given bad advice? Or is his protocol shorter because his case is “milder”?

He is very very out of it on the meds and is pretty much staying stationary, but I am not sure if it will stay that way. Luckily my schedule in the summer is more flexible and I can stay home most of the day 3 days a week but typically I am gone all day Tuesdays and Thursdays and he must go to daycare (under normal circumstances) because his separation anxiety is so bad. He is not crate trained at all.

My daughter’s 10th birthday is in a few weeks and she is having her party at an outdoor high ropes course in the woods . A few of her friends are afraid to participate in the course, but still want to come. I’m trying to think of what to bring that’s interesting to this age group, easy enough to schlepp through the woods, not going to leave a huge mess, hopefully not a billion dollars as the party itself is already close to $1000. Any thoughts? So far the only thing I’ve thought of is giant bubbles.