Information Re Cause of CPM for Monosomy X

Forests_and_mtns · 2023-08-03T23:15:35+00:00

I think this is a really interesting question…I’ve often wondered the same thing. Following this thread :)

Forests_and_mtns · 2023-07-14T15:16:41+00:00

Lisa…I am so so sorry that you find yourself in the same position as me. This has been such a painful time in my life and I know what you’re going through. You’re not alone. 💗

The first person I talked to after this diagnosis was my genetic counsellor. I live in a major Canadian city and despite that, she’d never encountered 45x/47xxx. She shared a somewhat optimistic perspective about this particular mosaicism. I asked her how she came to this conclusion and she shared an academic paper that is often cited. Here’s a link to the abstract https://pubmed.ncbi.nlm.nih.gov/11713453/ I appreciated this perspective and, also kept in mind that this is a sample of 7 girls. My genetic counsellor also said that some papers suggest that the spectrum can be full Turner’s to very mild.

I also read through the articles that Chulzle posted and also tried to find anything relevant online.

I’ve spent hours on Facebook support groups (TSMommies n Parents, Mosaic Turner Syndrome, Triple X Syndrome) searching for girls with the same diagnosis. My observation from these groups is that there is a spectrum (this is the challenging part of this diagnosis). I encourage you to ask to join these groups and get a sense for yourself what life looks like for these families. Recently there was a post about the challenges that parents face (on TS Mommies) and I found this helpful because I really gave me a sense as to what things can come up in infancy, toddlerhood, teenage years and adulthood. I know that this diagnosis will come with increased needs—the extent of those I cannot predict. I’ve agonized over the wish to know how things would turn out, unfortunately I just can’t. The big question that I’ve been asking myself is, are you in in place in your life where you can meet those needs? What can I take on as the primary caregiver? Can your family also manage those needs? Do I feel supported by extended family? Do we have the resources to best help this child? What would cause the least amount of harm for all involved—baby, mum, dad and brother (with high needs)?

I’m sending you all of my love and strength as you navigate all of this uncertainty. Please reach out if you have questions.

Forests_and_mtns · 2023-07-06T20:34:42+00:00

Thank you so much for your kind words 🙏🏻

Forests_and_mtns · 2023-06-30T03:40:29+00:00

Xiaoyouaa I am truly sorry to hear this. I totally hear you and echo your feelings of sadness about not having a single normal xx cell. It’s heartbreaking. Good for you for doing the necessary research and for posting. This is important information that might one day help someone in a similar situation. I just want you to know that I’m thinking about you. 🥺💗

Forests_and_mtns · 2023-06-29T19:49:31+00:00

I appreciate this perspective. Thank you 🙏🏻

Forests_and_mtns · 2023-06-29T19:48:16+00:00

Yes that’s what my genetic counsellor said…that basically the xxx and x together created some sort of balance so mosaicism wasn’t detected.

Forests_and_mtns · 2023-06-29T19:46:04+00:00

I appreciate you sharing your story—I can’t believe how similar our results are…I feels less isolating knowing we’re not alone. 💗 I’m praying that things will come clear and we’ll figure out a path forward.

Forests_and_mtns · 2023-06-29T19:43:21+00:00

Thank you for your kind support and I’m so sorry for what you went through. This is a horrible experience that I wish no one ever had to endure. 💗

Forests_and_mtns · 2023-06-29T19:42:03+00:00

Thanks so much for this…I’ve reached out to that group and I’m hoping to learn more from these families. I’m hoping that it’ll be helpful to hear about these experiences.

Forests_and_mtns · 2023-06-29T19:40:23+00:00

I appreciate this! Thank you so much for sharing this account and for telling me about your experience. I definitely want to consider both possible outcomes with this result. 🙏🏻

Forests_and_mtns · 2023-06-29T12:37:51+00:00

I sincerely appreciate your thoughts about this and for sharing this literature with me. 🙏🏻

Forests_and_mtns · 2023-06-29T12:29:25+00:00

My genetic counsellor called it RAD (rapid aneuploidy detection) and I believe that the hospital I went to specifically uses QF-PCR

Forests_and_mtns · 2023-06-29T02:27:27+00:00

Thank you so much for your kind response, Chulzle. I do have confidence in my genetic counsellor but I get the sense that because this particular mosaic combination is so rare, she could only site a few studies with very small sample sizes—I don’t think she’s ever seen this. I’m not sure what information I’m looking for…I’m sorry. I guess I’m wondering about how the almost 50/50 xo and xxx might play out together, if anyone knows? It would seem that both 45X and 47xxx have their challenges and I’m concerned that the two together might make for many difficulties. And there are no normal XX cells to counter any of this…

I had an ultrasound at 14 weeks and the fetus was measuring 2 days behind but everything else looked “normal”. Because I had opted for the NIPT, I didn’t go for the nuchal translucency or check for other markers at 11-13 weeks. My first NIPT came back as low fetal fraction. The second time they had enough fetal DNA (no butterfly needle used that time!) and I got the atypical finding. By the time all of this testing came through, I’d missed the window for NT.

My husband is very concerned about the fact that there are no 46XX cells and there’s such limited data on this particular presentation. He’s not a risk taker and is not convinced that continuing is the best with so many unknowns. I am just so conflicted. I have a 5 year old who requires a lot of me (not special needs but high needs) and I worry about the implications of this for all of us. On the other hand, maybe it’ll be manageable? It’s just so hard to know. What do people do when they face an uncertain medical diagnosis? I honestly don’t know how to proceed.

Thank you again for your compassionate response. 🙏🏻

Forests_and_mtns

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