Genetic Counselling – Good News!

Chromosome_15Yesterday we had an appointment that we had been waiting for with Dr Denise Williams and Professor Mark Kilby at Birmingham Women’s Hospital, to talk about the chromosome 15 duplication in Frankie and what it means for any future pregnancies I have.  They were both really lovely and gave us some good news, which is that the chromosome 15 duplication in Frankie is not, in their opinion, inherited from me or my husband and it was “de novo” which means it arose on its own out of nowhere in him. It was just bloody awful bad luck.

My chromosomes are completely normal and so are my husband’s, and the duplication in Frankie was on the maternal half of his chromosome 15 and not the paternal part.  Apparently when duplications are on the maternal part of the chromosome 15 the problems in the baby are always far more profound than if they are on the paternal part of the chromosome, so the life he would have had would have been devastating for him.  Frankie didn’t get that duplication from us, which is the main thing. I’m still getting my head around it, genetics are really complicated!

On the plus side we were told that the chances of it happening again are slim to none so we can try again if we want to. That said, Birmingham Women’s Hospital have already got a plan in place so if I am pregnant again I can have tests and scans and all sorts of things for reassurance – I just have to let them know if and when I have a positive pregnancy test.  One of the tests I can have at 11 weeks called chorionic villus sampling (CVS), where cells are taken from the placenta in the same way that as an amniocentesis test and it can check all the baby’s chromosomes within 10-12 days of the test, so I’m definitely having that if there is a next time. There is the same risk of miscarriage as with an amnio test, but for me I think it will be essential to have the test done when the time comes.

It was such a rare chromosomal abnormality in Frankie that the geneticists we saw said that they had to read up on it and consult various pieces of literature about it! I said to my Mum on the way back from the hospital as my parents came with me, trust me to have a baby with an extremely rare chromosomal problem, I don’t do things by halves it seems!

But seriously, none of this takes away the pain of me losing my Frankie, I miss him and love him SO much, and keep thinking why the hell was it him, why did he have to have this awful thing and be taken away from me. But I keep reminding myself of the life he would have had, which would have been awful for him. It was nothing I did wrong either, I did absolutely everything by the book from well before I was pregnant with him, in fact I went into cotton wool mode through the whole pregnancy “just in case”, and it didn’t make the blindest bit of difference because the chromosome 15 duplication happened from the exact moment he was conceived, it was always there from that very second.

So maybe, just maybe, there is a God up there who could see what was going to happen and spared him from the life he would have had if he had been born alive. It isn’t much comfort, but I must keep focusing on that…and the future.

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