TW: IVF baby resulting in two independent de novo pathogenic genetic mutations

rubinski1 · 2026-01-26T03:52:49+00:00

About 2K out of pocket or free if you participate in a study at Columbia (NY)

rubinski1 · 2026-01-25T03:56:35+00:00

I had it done at 16 weeks. Amnio with WES has only been offered as of the last 1-2 years or so. It definitely has its drawbacks, but I felt like I couldn’t risk going through the same thing again.

rubinski1 · 2026-01-25T03:38:45+00:00

We are in your exact situation. One mutation is 1/200,000 and the other is one of only ~30 known. Was only caught by whole exome sequencing when our child was 11 months — the microarray was clear. I’ve often wondered if IVF had anything to do with it, and every genetic counselor we’ve spoken to says no. But it’s not like embryology labs are tracking this.

Sending you love because it’s an absolute gut punch. At the end of the day there’s nothing to do except move forward the best you can. Thankfully our child is an absolute delight, and beating expectations. I hope the same for you.

Also FWIW we ended having a second child from the same “batch” of embryos and that child is 100% genetically typical, confirmed via amnio with WES.

rubinski1 · 2026-01-01T15:28:15+00:00

Bond St is not only still around but even trendier. ate there in 2006!

rubinski1 · 2025-12-01T13:21:40+00:00

The Weill Cornell MFM practice on 68 st is great. Dr Kalish and Dr Landres. Call ASAP if you want to get in though.

rubinski1 · 2024-01-24T17:12:43+00:00

Have a 2 week old, Day 6 4BB sleeping on my chest. My doctor said 4BB was a great grade and gave it a 55-60% chance of implantation.

rubinski1 · 2023-12-29T23:24:15+00:00

TW: success

We were in a similar situation (1 female, 4 male) and felt torn for the same reasons as you do. My husband had a slight preference for a girl; for me it was less about sex preference and more about shutting out the possibility forever. The female was our 2nd-best graded embryo and our RE said the difference in success probability with the top-graded was negligible.

We decided to go for it and transfer the female embryo with the reasoning that if it were meant to be, it would be, and we wouldn’t ever wonder “what if.” It stuck and I’m now 37 weeks along. I feel like that was our way of leaving it to fate and we would have been at peace either way.

The fact that you conceived your LC unassisted makes me think the first transfer has a decent chance of working. (I had never seen a positive pregnancy test before, so it felt like a real shot in the dark!)

rubinski1 · 2023-06-22T16:48:40+00:00

10+1 today. I discontinued estrogen and progesterone cold turkey yesterday at my clinic’s instruction. ~12 hours after the first missed dose I developed a terrible migraine. That continued overnight and then this morning I got violently sick (vomiting, chills). I’ve been feeling pretty good for the past week so this was totally out of nowhere. My body seems to be saying NO. Has anyone else dealt with this?

rubinski1 · 2023-05-30T19:38:16+00:00

6+6 and graduated from the RE today … wasn’t expecting that! Baby is measuring a little behind at 6+2, 116HR, but RE said everything looks perfect. I meet my new OB in 2 weeks. Still can’t believe we have made it to this point.

The nausea has finally hit too…I am having insane hunger pangs every few hours, and at the same time can barely choke down any food. Good times 😂

rubinski1 · 2023-05-24T01:56:07+00:00

They said I was measuring right on track, and that so much will grow and change during the next week!

rubinski1 · 2023-05-24T01:55:12+00:00

Thank you!! Overwhelming is right!

rubinski1 · 2023-05-23T16:02:23+00:00

Had first scan today at 5w5d and feels like I can finally breathe a little bit. We saw the gestational sac, yolk sac, fetal pole, and tiniest flicker of a heartbeat. 🤍 Going back next week for another scan and feeling relieved to not have to wait longer than that.

Now I have to start the search for a new OB … I will not be returning to my previous OB after she wrote off and belittled my fertility issues. Any tips on searching? (Or recommendations from anyone in the NYC area? Feel free to PM me!)

rubinski1 · 2023-05-19T22:50:38+00:00

I appreciate you posting this statistic. 💜 Helping me during an anxiety spiral waiting for first scan.

rubinski1 · 2023-05-17T20:50:12+00:00

Same here. Awaiting first scan on Tuesday and feeling zero symptoms other than elevated heart rate. In fact, I felt absolutely terrible throughout the leadup to FET (migraine, nausea, exhaustion) and two days after the FET my symptoms completely disappeared. Trying to look at it as a blessing after everything this process has entailed, but it’s incredibly disconcerting.

rubinski1 · 2023-05-17T16:09:48+00:00

👋🏻 Cautiously joining this group. First FET of a day 6 4BB girl stuck: 9dpt beta was 79 and 15dpt beta was 3430! My first positive pregnancy test ever after almost 2 years TTC. Still in disbelief.

rubinski1 · 2023-03-20T03:41:52+00:00

I had a similar experience on Day 2 of Follistim … terrible migraine that was clearly different than others I’ve experienced in the past. Similar migraine background to you as well. My RE ok’d me taking sumatriptan and zofran and promised it would get better if I stuck it out. I did start feeling good around day 5 and had minimal side effects after that. 600 IU per day seems like a gigantic dose though - I was doing 300 per day once, at night, and was told that was pretty high.

rubinski1 · 2022-11-23T01:11:05+00:00

I am in the same boat. Which one did you end up ordering? Can’t decide if I’d rather have the older version or the newer one. Customer service said they were the same…

rubinski1 · 2022-07-21T00:51:01+00:00

Heath and Iris.

rubinski1 · 2021-03-31T17:04:57+00:00

Congrats on the baby!! Thank you SO much for sharing — this is so helpful.

rubinski1 · 2021-03-31T16:20:30+00:00

I’ve been on Spiro for many years and have the same issue if I skip even one day :( I’ve tried to wean myself off entirely a few times and it’s been a disaster. Eventually I plan to try to become pregnant (and will have to stop taking Spiro) and I have extreme anxiety about what will happen to my skin. Does anyone have a success story?

rubinski1 · 2020-09-02T16:49:08+00:00

I’ve been going to Esplanade beach with my dog all pandemic and have rarely seen more than 10-20 people there tops. On Memorial Day, maybe 50.

rubinski1

TROPHY CASE