The genetics of it all …again

Well there you go, I had not expected that telephone call whilst sitting in John Lewis with mum and Phoebe a week before Christmas.

It has been over 4 months since I was telephoned and informed that I was a carrier of DMD gene – it was very hard to accept and not feel to blame for it all. So, very soon after, I started counselling to get me through this aspect and well, everything else too!

Anyway, back to JL and coffee – a missed call and a sick sense that said listen to the message and call back. It was my geneticist, she had telephoned to tell me that she was very sorry but due to ‘human error’ I was not a carrier of DMD. ?!?!?!?!

I had no idea how to feel or react – I wasn’t angry, happy or sad. Mum saw the positive of it, which I know it is, however because of my counselling I’d kind of come to terms with it all by now anyway.

It means no odds for other children – it could still be in my egg cells and as we know they can’t be tested. So PDG is all we have still as an option for future children – we’ll see.

So there you go, some ok news. Everyone else is way more happy than me, and that’s fine and nice.

I just look at it like – ‘well that’s less hassle as I now don’t need the heart appointments’.

It took me a while and after a conversation with some other NHS professionals I was advised to complain about the incorrect results. The main reason I wanted to do this was to ensure this doesn’t happen to another person. It caused me such huge heartache on top of a devastating diagnosis, it could have tipped me over the edge. It definitely caused me to start counselling.

What rile me is that if we hadn’t gone for a discussion at Guys Hospital for genetic implantation we never would have found out – they spotted the mistake, not my genetic counsellor.

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