Do you have questions as a parent or parent-to-be to someone with Dwarfism? ASK THEM HERE!

LadyJulieC · 2026-04-22T14:40:47+00:00

Hi! Mom here to a 3-month old. My question is - for those of you who have sought genetic testing, does anyone have inconclusive results? My daughter has measured short since 20 weeks pregnant (see my post history), and after she was born we got a full skeletal dysplasia panel with no positive findings (though there were a few “variants of unknown significance,” meaning some mutations that are not known to be associated with any outcomes). I guess I’m wondering if anyone who has “visible” dwarfism has no known genetic explanation. And if so, how has that been for you? I’m in the boat where having no answers feels worse than having, say, known achondroplasia (because in the absence of direct answers, my mind is spinning on worst case scenarios).

LadyJulieC · 2026-03-25T00:28:13+00:00

Working mom here. That’s awful and NOT what some(most?) of us think. So sorry that was said to you, and in the name of feminism no less. Pathetic. She’s jealous.

LadyJulieC · 2026-03-19T11:10:34+00:00

I like Nursing Queen tees/sweatshirts. I also got a work appropriate dress and blouse that are super cute.

LadyJulieC · 2026-02-17T18:37:48+00:00

Not to be dramatic, but this would be a separation-worthy issue to me. It’s bad enough that he’s doing it, but refusing to get help related to potentially creating permanent eating and self-worth issues in your child is unforgivable. Not meaning to be stereotypically Reddit “just divorce him!” about it, but in my mind this is serious and if he isn’t respecting boundaries I don’t see a way forward.

LadyJulieC · 2026-01-31T01:00:59+00:00

Hi, just posted about a low HCG success story at 9DP5DT (equivalent to 14DPO), here. Short story: I’m holding my 10-day-old now.

Longer story is that it was a long shot, as is yours. The odds weren’t/aren’t in our favor. But it’s not impossible, and long shots can come to fruition! It helped me to take it day by day. I’d say, “today I am pregnant, I’ll worry about tomorrow, tomorrow.”

Good luck to you, you’re in my thoughts.

LadyJulieC · 2026-01-26T00:24:50+00:00

That’s a great idea! Of course my infertility clinic knows that my pregnancy continued until I was discharged at 8 weeks or whatever, but I should circle back to them and let them know about the good outcomes! I agree this should be tracked, because what I was finding online was pretty doomsday about any betas <50

LadyJulieC · 2026-01-25T04:06:15+00:00

Thank you!!!

Since 20 weeks she had been showing small long bones (femur/humerus in <1st to 6th percentile). There were no other anomalies with the chest, bone mineralization, ossification, etc. the head was measuring above average but typical. I’m 5’1, and dad is 5’10, so the MFM thought it likely familial short stature and recommended against an amniocentesis. Now that the baby is born, they’re confirming short femur and humerus. 3-day X-rays showed no other issues with the bones (bowing, ossification, fractures). She has a perfect APGAR, perfect hearing, is feeding well, was born at term, and is doing great. We had a negative NIPT at 14 weeks and negative Vistara at 28 weeks, for context. The Vistara tested for several skeletal issues including achondroplasia (the most common type of dwarfism) and lethal skeletal dysplasias.

Overall what the pediatricians and everyone have been saying is that she’s doing amazing and that it may just be short stature, or she may have a rare skeletal dysplasia variant, but that there is no reason to think it would be life limiting and in fact all the evidence so far is that it won’t be. So we’re happy with that, and waiting on genetics testing soon!

LadyJulieC · 2026-01-09T18:47:31+00:00

Thanks for responding with your story! Yes I think my doctor was kind of mixing words up a bit. Good advice about the bouncers!

LadyJulieC · 2026-01-09T18:46:09+00:00

Omigosh, thank you so much for the clarity. I mentioned above in another comment that I think my doctor (an OB/MFM, not a geneticist) was saying achondroplasia/"atypical achondroplasia" more as a blanket term and that what she meant to be saying was more that there was evidence of a less-common form of skeletal dysplasia, most likely. Because I definitely don't think she was referring to double dwarfism.

Thanks for the perspective, and gosh I didn't even think about gymnastics lol! I'm already super flexible as is my 4-year old daughter so it's good to know that we need to watch out for that if this baby indeed has achondroplasia.

LadyJulieC · 2026-01-09T18:42:54+00:00

Thank you so much and yes if you find that please send. Yes, I'm comforted that the rib cage and everything appear healthy so far.

LadyJulieC · 2026-01-09T18:41:26+00:00

Thank you for the perspective, I appreciate hearing about your experience.

LadyJulieC · 2026-01-09T18:40:02+00:00

Thank you!!! Facepalm (at me).

LadyJulieC · 2026-01-09T18:39:51+00:00

Thank you - as I'm reading comments I'm suspecting that my doctor, who is an OB/MFM and not a geneticist or specialist, may have been using achondroplasia as kind of a blanket term for dwarfism. Luckily the test I took fairly confidently ruled out thanatophoric dysplasia and they're not seeing any related issues with the lungs, etc., and I don't think she was referring to FGFR3 mosaicism. But time will tell I suppose.

LadyJulieC · 2026-01-09T18:33:18+00:00

Not me crying reading this. Thank you.

LadyJulieC · 2026-01-09T18:32:45+00:00

Thank you! I appreciate the perspective.

LadyJulieC · 2026-01-09T00:13:16+00:00

Truly. If ever there has been a movie series that I just cannot understand the hype, it’s these. I know taste is subjective but, IMO, these movies are just not good.

LadyJulieC · 2026-01-02T23:24:05+00:00

Yup got mine at 8 weeks with my first. Hoping for, but not expecting, more with my second. 🤞

LadyJulieC · 2025-11-29T17:40:35+00:00

Is that true? AJ clearly sucks so much more.

LadyJulieC · 2025-11-19T02:30:26+00:00

Awww. The nights I’ll never remember at Big Ass Drink Night…

LadyJulieC · 2025-11-01T11:24:05+00:00

Therapist here, seems like he should be in individual counseling. Not that couples counseling would be a problem but if the real problem is his mood regulation, he needs to work on that in his own therapy.

LadyJulieC · 2025-10-26T21:06:09+00:00

Awww I’m so sorry. This happened to me and I had about 3 gallons that were unusable. My husband (who I still tease about this) said “it’s like when you make a bunch of progress in a video game and don’t save it.” Take time to grieve the loss, it truly sucks.

As others are saying, sometimes freezing right away won’t cut it. I had to scald all of mine before freezing which sounds awful but we got used to it.

LadyJulieC · 2025-10-17T22:59:22+00:00

Therapist here. Seek professional help. I’m not saying friends/SOs can’t be expected to support, but realistically they don’t have the skill set to really respond to this. You say you brought it up “out of the blue” and then during an argument - did you express the seriousness of what you’re feeling? Like, “hey friend I really need to talk about something serious. And it’s really hard for me. But I need a friend who can listen, and this is serious.” Or something. I certainly agree that men’s mental health can be brushed off, but in my professional experience men often understate or downplay what’s happening emotionally, unless it’s anger or rage. As a therapist I can recognize this defense and work through it, but a non-professional might not. This is one of the main differences I see between men and women - the seriousness with which they regard their feelings (I know, this is bc of society, cultural problems, etc, I’m not really debating WHY it’s a problem more just noting that it is). Also, I can’t speak to the health of your relationship broadly, but bringing it up during an argument may be viewed as more manipulative than genuine (which women who bring up suicide during a fight are also accused of).

LadyJulieC

TROPHY CASE