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What's a Balanced Translocation?
We had been waiting quite a few weeks for the results of our chromosomal analyses.
We’d already both had tests taken twice before, which showed nothing, so even though our OB was pretty sure he’d worked out what was causing our miscarriages, we still wanted some form of confirmation.
Finally, we got it.
I received a phone call from our OB just over a week ago basically saying that Sam and I would need to go into the office to speak with him.
He didn’t really tell me much, other than it wasn’t my results he was concerned with… so obviously he couldn’t discuss Sam’s results with me, which meant we had to wait another week until we could both go to see him to
find out what was going on.
He sat us down and explained that Sam has what is known as a Balanced Translocation of Chromosomes (it’s a bit of a mouthful - we had to ask him to repeat it about 5 times!)
Which basically means that two of his 46 chromosomes have broken off and switched places with each other.
Before you start making jokes about how you always knew there was something wrong with him, it actually isn’t a problem for him from a health and wellness point of view, because his chromosomes that have moved are balancing each other out.
Problems only arise when chromosomes translocate and don’t balance out, which is what happened to each of our foetus’.
It can be a little tricky to explain so, if you’re interested, take a look at this youtube video which pretty much sums up the scenario:
So, we now have confirmation that each time we conceive there is a (roughly) 50% chance of it ending in miscarriage.
You might be wondering about our chances of conceiving a child with disabilities or learning difficulties.
This was something we were both worried about too and something we wanted to check on before deciding what to do next.
Our OB has reassured us that it is highly unlikely that this particular translocation would cause any abnormalities.
My understanding is that, because it is chromosome 1 and chromosome 21 (both responsible for DNA development) that keeps going awry, the foetus wouldn’t be able to survive anyway if it had an imbalanced translocation.
So, after all that we were told we pretty much have 2 choices.
We can keep trying to have a baby naturally, and hope that we hit the jackpot when it comes to chromosome selection eventually, or we can go down the IVF path.
Since our difficulty is a genetic one and not really to do with infertility, we would have pretty good chances of a successful pregnancy with IVF. The downside is that it is extremely expensive and quite an intense process.
At this stage, I’ll just be blunt and say I don’t want to do IVF.
I’m not saying I would rule it out as an option in the future, I’m just not prepared to do it right now, knowing there is still a chance that we could have a successful pregnancy without going down the IVF route.
For now, we will take our chances, feeling relatively comfortable with the knowledge that we might have to go through this process a few more times before we have some success.
Since we can’t predict how we will feel in the future, we’re not going to put any limits on ourselves in terms of a timeframe or pre-decide a number of miscarriages we’re willing to deal with before turning to IVF.
In some ways, we actually feel a sense of relief in knowing that we have some answers about why we keep having miscarriages and confident that we can deal with going through this process a few more times if we need to.
Lastly, in case you’re interested (it was something we wanted to know just for our own info) we found out so far we have lost 1 boy and 1 girl.
From our current perspective, we’re glad to know that this issue isn’t gender specific and lucky that we’re both able to look at our scenario from the bright side, being grateful for the options we have and feel fairly optimistic that it’s just a matter of time before things work out for us.
Let’s keep our fingers crossed that the next ones a keeper 😉
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