Please or to access all these features

Add post

Watch this thread

Save thread

Start a new thread

Flip thread

Hide thread

My feed

Active Unanswered threads

Getting started FAQ's

Unanswered threads Acronyms Talk guidelines

Hide shortcut buttons

Talk

Antenatal tests

Get updates on how your baby develops, your body changes, and what you can expect during each week of your pregnancy by signing up to the Mumsnet Pregnancy Newsletters.

Flip

Original poster

TTC after TFMR - with a 50/50 hereditary condition

20 replies

pebbles3004 · 15/01/2023 16:30

Anyone else in this boat? It's a lonely old place to be... I feel like I will be ready next cycle to TTC again, however then I remember the dark cloud of the 50/50 chance of the same thing happening which is hanging over me.

OP posts:

CristinaNov182 · 16/01/2023 16:42

I don’t have this, but you can think of it this way. You already had the worst outcome, what are the chances of it happening a 2nd or a 3rd time in a row? Now that you got past the worse outcome, statistically the chances are in your favour.

Original poster

pebbles3004 · 17/01/2023 14:19

Hmm I suppose. Although the pessimist in me says that the chances aren't really I my favour - we were very lucky with my first pregnancy to conceive a healthy baby boy - we fell on the right side of the 50/50.

I know there's nothing to say either way and ultimately it's literally 50/50, but just a really hard outlook and was wondering if there was anyone else in the same boat for us to be able to have a moan to each other about how unfair life is 🤣

OP posts:

Jellycats4life · 17/01/2023 14:23

what are the chances of it happening a 2nd or a 3rd time in a row? Now that you got past the worse outcome, statistically the chances are in your favour

That’s not how probability works though. The odds are 50/50 every time, and the results of the first go don’t influence the odds of the second go.

Like with flipping a coin: flipping ten heads in a row is, statistically speaking, the same probability as five heads and five tails.

Sorry OP, I don’t want to make you feel worse. It’s shitty odds, and I’m truly sorry you’re in this situation.

Dueinjan23 · 26/01/2023 09:22

I just wanted to say, I have a condition which gives only 20% positive outcomes in pregnancy and after a TFMR and so many MCs we had IVF with PG testing, and our arms have been full since last week when our healthy daughter arrived. I gave up so many times but my husband carried us through - head down keep going was his motto after every loss and every positive test. I feel emotionally battered and bruised but I wouldn’t change it.

good luck xxx

MummyBearBoo · 13/02/2023 23:12

I had this and had a healthy baby first time then two babies that would not survive due to having the defective chromosome from my egg -then a healthy baby again! It's the worst wait ever but when we tried for a 3rd time as it's 1in 2 it's 2 in 4 so we felt we had to try a 4th time! It was 50/50 in my case but our 1st baby with the defective chromosome also had Down Syndrome so we also had to contend with the now increased chance being a 1% chance of the next baby having that too but they didn't!

Original poster

pebbles3004 · 14/02/2023 08:15

@MummyBearBoo great to hear you have had 2 healthy babies. I really want to start to TTC as I just feel like I am in limbo, as I know whats to come and what I have to deal with - but feel like I can't even start to feel like we've got the ball rolling until I get a positive test. But I'm also terrified of what's to come, I really don't expect this next time to be successful. I don't know why, maybe its self preservation...

It's horrible isn't it, I get so envious of people who get their positive pregnancy test and they are so full of hope and excitement. I wish I knew what that felt like...

OP posts:

Dyrne · 14/02/2023 08:18

Can you speak to your GP about your options? For example is IVF with genetic testing a possibility? It’s not the “easier” route but it’s at least one with peace of mind once an embryo is implanted.

Original poster

pebbles3004 · 14/02/2023 08:36

@Dyrne we have one healthy child so don't qualify for NHS IVF. It's would be about £15-£20k to self fund, with no guarantee of it working.

We've discussed it at length and honestly still not overly sure what route to take.

OP posts:

lopsees · 14/02/2023 08:50

50:50 is a really difficult situation to be in, but remember that means there is just as much a chance of things being ok, as there is of a bad news result.

You say you are not sure what route to take. I'm presuming you have had genetic counselling. Can you speak them again?

MummyBearBoo · 16/02/2023 15:34

@pebbles3004 -I know exactly how you feel with my first TFMR me and my Brother's wife (so my SIL) got pregnant at same time her EDD was day after mine -she posted her 12 week scan and announced all over social media I was happy for her but it was the same day I found out our baby had Down syndrome and the 50/50 condition.
I would love to enjoy being pregnant but tho I was excited to get a BFP I am then filled with dread and have the longest wait to get the ok from the CVS at around 12.5 weeks then wait til 13 weeks to make sure the CVS doesn't cause miscarriage!
As our first child was healthy (we conceived accidentally while waiting for appt with fertility specialist for PGD) we also were not entitled to funding and it was really expensive we would need to remortgage the house and not be able do much with our existing DD if we went this route 1 in 3 success rate meant it could be up to £45k and there is still no guarantee!
We never really had any problem getting pregnant it just took us 4 tries to get our 2 healthy children! Xx

Original poster

pebbles3004 · 16/02/2023 20:54

@MummyBearBoo oh wow its a very similar story. It's really nice to talk to someone who's been through a similar experience. We conceived our little boy when we were also waiting for PGD appts. We were over 1 year into the process and had literally got no where, all they did in that time was re-test my husband and confirm his condition. We took matters into our own hands as i couldnt bare the thought of waiting another 2 years for potentially an unsuccessful round of IVF... and we were very lucky, our son was healthy.

But now is different story. I knew deep down we weren't going to be as lucky this time, but what else can we do but try? So, one unsuccessful try down, and now I just need to muster up the courage to try again.

Really happy for you that you have two healthy rainbows x

OP posts:

Jomummy1013 · 16/02/2023 21:00

@pebbles3004 I am pregnant with a baby that has a 50/50 chance of inheriting a debilitating condition. Its father carries a gene for a condition which he has and displays and he has had so many operations. I'm worried - he said to me that he would never want anyone inflicted with what he has. This child wasn't planned.
I can have an amnio at 15 weeks to see if the baby is affected and go from there. X good luck with what you decide x

Jomummy1013 · 16/02/2023 21:03

Also, with the condition, even if I have the amnio at 15 weeks, they can't give me a quick result like they can with DS. It takes a week or so for the cells to cultivate to see if the child is affected. Perhaps I'm being selfish continuing. I mean it wouldn't be a terminal condition for my child, it would increase in severity as the baby gets older, and there are different levels of if. I don't want to post on here what it is as may out me but it is a worry x

Original poster

pebbles3004 · 16/02/2023 21:38

@Jomummy1013 sounds very similar - my husband has always been adamant that he cannot pass this gene on, if we have the chance to eliminate it we should, and I do agree with him... its just so hard in reality.

Can you not have a CVS? That is normally available from 12 weeks. We had to wait for our cells to culture too which took 2 weeks, so we got the result almost 4 weeks after the CVS. The test for our condition is very complicated and so they need a big cell sample and it takes 2 weeks to run.

How many weeks are you now - how long do you have to wait now til you get a result?

OP posts:

MummyBearBoo · 17/02/2023 19:37

Good luck -our 2nd was, I wouldn't say an accident, but was unexpected we're weren't actively trying but weren't preventing either, the third time we tried for 2 months had a chemical then tried for a further 2 months and got pregnant. Those two were both unsuccessful. I think coz we'd tried twice and had been pregnant 3 times it made sense to try a fourth time 50:50 we had 1 ok 2 not and luckily our fourth was ok! This was our last try tho I couldn't have gone through it again if this baby was not healthy! Xx

MummyBearBoo · 17/02/2023 19:44

With my condition it is a faulty chromosome -if my egg had the one from my mum it will fine if from my dad it won't! They know which chromosome it is so the give me a dating scan ASAP and do CVS at 11 weeks and I get the results about a week and a half later they test for the 3 trisomy's too and can tell with 100% accuracy the gender. I always wanted to know coz healthy or not I didn't want them to be an IT -by pure chance the 2 healthy ones were girls and 2 poorly ones were boys -obvs the sperm determined gender and my egg determined healthy or not!

valaston · 17/02/2023 20:30

I just wanted to wish you luck too and say you're not alone. We have a 1 in 4 condition between us and apparently the type of mutation I carry is more tricky to build a PGD test for - long story, but they need extra samples from my family members and those have been difficult/impossible to get so far.

so, I'm back to thinking about just giving our luck another go and TTC on our own. Trouble is, so far our our luck hasn't been great. We only found out we carry this thing after we'd already had 2 kids, then our firstborn got sick and died - then a third pregnancy that took a long time to conceive that ended in tfmr. It's scary to risk that again. But I'm not ready to say this stage of our lives is over.

Jomummy1013 · 21/02/2023 17:08

@pebbles3004 I am having a termination this Thursday due to concerns for this genetic condition. I have done so much reading up and I don't think I can put a child through this. My midwife doesn't even want to arrange any genetic testing. The condition is not well known and the father himself said he would never wish it on anyone.
I won't be getting pregnant again after this, I am going to make sure of it. And I am 41 so it's fairly unlikely anyway. I will be happy with the three kids I have.
I'm gutted and it's a sad end to this but even if the midwife agreed to the CVS, I am not 12 weeks yet and that would mean I have another 2-3 weeks of pregnancy and then maybe a termination. I am too scared to roll this dice tbh. They aren't keen on arranging any forms of testing for me anyway 💔X

Original poster

pebbles3004 · 21/02/2023 20:44

@Jomummy1013 I'm so sorry you are going through this. Do you have a genetic counsellor? Many of the normal midwives I've ever seen aren't clued up on reproductive genetics (with the exception of the screening midwives who are used to getting involved) but a genetic counsellor should be able to arrange a CVS for you?

Either way, I'm sorry you are dealing with this. We have one healthy child and about to turn 35 so all I can hope for is that we are lucky enough for 1 more. If we are so lucky we will 100% close this chapter and husband will get the snip. This is so so hard and all I ever think about.

Thinking of you this week x

OP posts:

MummyBearBoo · 21/02/2023 21:34

I turned 35 about 2weeks before i conceived my second healthy baby and even tho I still get a bit broody when I see new babies I'm not prepared to roll the dice any more - 2 healthy babies and 2 angel babies and done! Getting DH snipped! Also not sure I could do baby stage all over again now I'm 38! Xx

Flip