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OUR STORY

Chromosome translocation

I’ve pretty much always known I have a balanced translocation of chromosomes 5 & 7.  My mother had a stillbirth at 36 weeks and testing after that showed it was caused by an unbalanced chromosome translocation, passed down from my Dad. And Dad also passed a balanced version of this translocation on to me…

 

This balanced translocation causes no issues until you have kids. From there it gets a bit messy… Basically there are 4 options with every pregnancy all at 25% odds –

 

  1. A healthy non-carrier of the translocation (a completely normal bub)

  2. A healthy carrier of the translocation (just like me and my other children)

  3. A miscarriage

  4. A baby ‘not compatible with life’ (they carry an unbalanced translocation – they’re usually stillborn more than 98% of the time, though have a tiny chance of living but not for long)

 

So in every pregnancy at 12 weeks I have a Chorionic Villus Sampling (CVS). Two weeks later you get the news, and on #3 pregnancy the baby had an unbalanced translocation and was considered incompatible with life. This basically means there are just too many things physically wrong with the baby for it to be able to survive. And again with our #4 pregnancy, the same thing happened.

 

Now I had this possibility in my mind well before we even started having kids. We always knew there were pretty high odds of this happening. And had it in our minds that we’d continue on with the pregnancy despite knowing the baby was going to die… But the reality of it is far more confronting. And making that decision to carry on despite pretty much knowing the baby’s fate, was much, much harder in the light of day. I would not wish that decision on anyone.

 

For us, our Christian faith is our life. It’s a big part of who we are, how we live, and where our priorities lie. And so, trusting things to God is part of that. In the case of deciding what to do about babies with the unbalanced translocation – whether to terminate or carry on – it’s the same. We believe it’s in God’s hands how a life plays out and what happens. So we wait and see.... 

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Here's what happened with Nina, our #3 baby, and Molly, our #4. 

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