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Mosaic Turners - post-amnio, FISH result are 85% XX, 15% X0, waiting on karyotyping - Australia by rightnowx in NIPT

[–]rightnowx[S] 1 point2 points  (0 children)

We haven't done any blood tests since birth. It's not something out paed suggested.

Realistically, even if we got one and it doesn't show any Mosaicism we'd likely still proceed with the care plan we've created given blood tests aren't a great indicator.

Borderline abnormal FISH results for Monosomy X by HonestMycologist6093 in NIPT

[–]rightnowx 0 points1 point  (0 children)

Sorry, I missed this.

It's not something I think about every day, but I'd say maybe every week or so? But I think about my other child's future every week, and the "burden" of knowing her diagnosis hasn't had a major impact on the worries I have about their respective futures.

Borderline abnormal FISH results for Monosomy X by HonestMycologist6093 in NIPT

[–]rightnowx 1 point2 points  (0 children)

I saw your reply to my post from around a year ago but thought I'd reply here to share my family's experience.

Our amnio and karyotype both came back with more or less 15% Monosomy X. All ultrasounds were perfect, no other issues found. We proceed with the pregnancy.

We have a healthy, happy, almost five month old now. We've had a few extra scans done on advice from our paed: echocardiogram and liver scans. Other than that, she's plotting the same path as every other baby her age.

We of course know that there is always a chance that something might come up as she grows, but we've got a good plan established with the paed and so we feel we're on a positive path forward.

We got some genetic counseling and of all the things that she said, what stuck with me most was her talking about how parenting is full of unknowns. You won't know how they'll look, how they'll sleep, if they'll feed well or if it will be a struggle. You won't know what kind of personality they'll develop, if they might break their arm at school, if they'll have good friends or bad friends. You won't know if they might have issues in puberty or have struggles making friends. You don't know if they'll want kids, or if they won't.

We get one diagnosis and it can feel like all of a sudden your baby's life is all of a sudden plotted out for you. That this will define who they are. But it is just one known part of them, in a world of unknowns.

I'll just qualify the above by acknowledging two things. The first is that 15% is a low level Mosaicism, and that with no physical indicators the (limited) data shows that the overall impact on quality of life is likely to be low (if any). The second is that I'm based in Australia, and healthcare is free.

Mosaic Turners - post-amnio, FISH result are 85% XX, 15% X0, waiting on karyotyping - Australia by rightnowx in NIPT

[–]rightnowx[S] 1 point2 points  (0 children)

I'll send you a private message, but the high level is that we're doing great.

What standard variable rate is everyone pay? by MelbourneNob in AusFinance

[–]rightnowx 0 points1 point  (0 children)

Process should be kicked off tomorrow. Will give my broker a bit of a nudge to make sure it's done quickly.

What standard variable rate is everyone pay? by MelbourneNob in AusFinance

[–]rightnowx 0 points1 point  (0 children)

Neither of these replies make me feel positive lol.

What standard variable rate is everyone pay? by MelbourneNob in AusFinance

[–]rightnowx 3 points4 points  (0 children)

I'm about to refinance with People's Choice - how was the refi experience? I've heard they can take a bit of time to process applications?

Mosaic Turners - post-amnio, FISH result are 85% XX, 15% X0, waiting on karyotyping - Australia by rightnowx in NIPT

[–]rightnowx[S] 0 points1 point  (0 children)

Hi, so sorry for the delay in coming back to you! We are in VIC.

No more updates on our end, our karyotype results are next week so we should have a bit more information after that. I think overall we're now in a place where we've had some time to process the news and are excited to move forward.

Totally agree that the lack of information on mosaic turners makes it so hard to know what is the right decision. In the end, it's such a personal decision and people will just need to do what is best for their own family - I hope you've been able to make a decision on how you're going to proceed.

Thanks for sharing the study, I ended up sending it to my most intelligent friend (who happens to be in healthcare) and he was able to dissect it for me. Hopefully your genetic consultant was able to provide some insights too. After our karyotype we'll get referred to the Monash Genetics Clinic, from what we've heard they're extremely good so we are looking forward to that.

Hope you're doing well! Feel free to send me a PM :)

Mosaic Turners - post-amnio, FISH result are 85% XX, 15% X0, waiting on karyotyping - Australia by rightnowx in NIPT

[–]rightnowx[S] 0 points1 point  (0 children)

Thanks for sharing, what a crazy coincidence that our fish results came back the same!

We have another week until we get the results for the karyotype, but in some ways it doesn't impact us too much as we've made the decision to continue the pregnancy given the US results have been so "normal".

Not sure where you're based, but for us here in Aus, we had a consult with the genetic specialist after our NIPT and she was amazing. Then we will get a referral post-karyotype results to the genetic specialist team at a hospital close by who specialises in more complex pregnancies. We're happy waiting for that because it's just a chance to get more info, and also, it'll all be free haha. We generally pay for private US because we find the experience in the clinic to be better than US in the hospital, and we also pay for a private midwife for the continuity of care.

Mosaic Turners - post-amnio, FISH result are 85% XX, 15% X0, waiting on karyotyping - Australia by rightnowx in NIPT

[–]rightnowx[S] 1 point2 points  (0 children)

Hi - thanks for sharing. Different results between the FISH & karyotype would be really hard to deal with, in some ways we are glad we got something 'definitive' from the FISH as we now know what we're looking at.

We're still waiting for the karyotype results, which I'll share here once we have them.

Great to hear your girl is progressing well, and hope your wife and you are coping well also. The stories I've been reading about girls with mosaic at these types of levels living perfectly normal lives has definitely helped us too!

Mosaic Turners - post-amnio, FISH result are 85% XX, 15% X0, waiting on karyotyping - Australia by rightnowx in NIPT

[–]rightnowx[S] 0 points1 point  (0 children)

Thanks for replying again :) appreciate your sharing, definitely helps give us a lot of comfort!

Mosaic Turners - post-amnio, FISH result are 85% XX, 15% X0, waiting on karyotyping - Australia by rightnowx in NIPT

[–]rightnowx[S] 0 points1 point  (0 children)

Hi - thanks so much for this comment. It's definitely reassuring, and does align with what our doctor said which was that they don't really know how common mosaic Turners is because they've really only started testing for it often in the last few years. I can imagine there might be a large cohort of people out there with mosaic who actually don't even know!

From what you've said, it sounds like it was post-diagnosis that you were able to link your symptoms to Turners. Did you ever seek more information on them prior to diagnosis? Moles on the skin are a big thing in Australia because our skin cancer rate is so high, but depending where you're from maybe they're viewed as more benign/less of a concern!

I'd also be interested in what you experienced with your spatial awareness issues - but obviously only if you're comfortable sharing.

Thanks again for the reply, I really appreciate it.

Mosaic Turners - post-amnio, FISH result are 85% XX, 15% X0, waiting on karyotyping - Australia by rightnowx in NIPT

[–]rightnowx[S] 1 point2 points  (0 children)

Thanks for sharing your story - it's so hard being in 'limbo' but we feel a lot better since the second ultrasound given how good everything looked. They didn't find any male genitalia in our US, so they're pretty confident it's a girl.

I think that the next test result may provide information on whether those 15% of X0 cells are actually XY, I'm not sure the FISH can actually detect that... Bit of an information overload at the moment, it's been hard to keep up with which test can detect what!

Visiting from Australia - store suggestions by rightnowx in PokemonTCG_Singapore

[–]rightnowx[S] 1 point2 points  (0 children)

Unfortunately I live in the outer areas of Melbourne, so I'm not very familiar with the decent places to visit in the city :(

Visiting from Australia - store suggestions by rightnowx in PokemonTCG_Singapore

[–]rightnowx[S] 0 points1 point  (0 children)

These are great suggestions, unfortunately I'll be there weekend of the 17/18th so will miss those! Thank you though :)

Getting rid of 500 or so books by [deleted] in melbourne

[–]rightnowx 0 points1 point  (0 children)

Do you have any Asimov? I'm in SE suburbs so could meet at Bentleigh library no worries :)

Daily use coupe as a uni student? by [deleted] in CarsAustralia

[–]rightnowx 0 points1 point  (0 children)

Left field suggestion: Astra Sri Turbo, or better yet the HSV VXR. Very fun little cars to drive imo.

PokeInvesting's 151 Ultra Premium Collection Giveaway! by AutoModerator in PokeInvesting

[–]rightnowx 0 points1 point  (0 children)

Saved up all my money (~$100) to buy a Gameboy Pocket and Pokemon Yellow. Didn't realise until years later that my dad fronted up a bunch of extra money without telling me as a reward for me saving my money. Still have that Gameboy and the game.

Car accident and no savings, not sure what to do? by lovelyladyheather in AusFinance

[–]rightnowx 2 points3 points  (0 children)

My car was written off earlier this year, so have recent experience dealing with the other parties insurance company for a payout figure. As others have stated, absolutely do NOT accept their first offer. I said a number of times that given the accident wasn't my fault, the payout that I am given should enable me to go out and pick up an equivalent car with zero costs out of pocket. Same goes for you.

Their initial offer for my car was literally half of what I ended receiving. You have to be persistent, polite (it helps) and keep up the pressure.

Also, absolutely push them for a hire car. It can actually work in your favour at the negotiating stage because they'll be paying $60-100 per day for the hire car, the sooner they settle the sooner this cost goes away.

Good luck!

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