Why do I always have to wait for bad news?

I was at work when I got the phonecall. It was my old doctor’s office, and the nurse was ringing to tell me they had the results of my genetic blood tests. The catch was, she couldn’t tell me the results, as I had changed doctors. Now I was slightly concerned at this point. I had an IVF scan appointment with my doctor the next day, and it was curious to me that she would be calling me, and not just sending the results through to my new doctor.

I told her exactly that, and she said she was calling because I should contact my doctor immediately. Could it not wait until I was to see him the next day? – I asked. Apparently not. Apparently it couldn’t wait one day.

This is when the figuarative red flashing lights and sirens started going off. Now, if you know me, you know I have a tendency to get a bit stressed/over-excited/lose the plot. So with my head spinning, I frantacially called my new doctor. And, of course, he was unavailable. Awesome.

So after leaving a rather emphatic message with his receptionist that he must call me ASAP, I attempted to make it through a day of teaching with the mystery blood results hanging over me like a storm cloud. To say my mood was a little stormy would be quite the understatement.

Finally, at lunchtime, I got the phonecall from my doctor. He had my results. They weren’t good. I had been diagnosed with ‘Robertsonian Balanced Translocation of the 13th and 14th chromosomes’. I didn’t catch much of the rest of what he said. While he was telling me that he would explain it in more detail the next day at my appointment and discuss my options, I was desperately trying to remember the name of the disorder so I could consult Doctor Google as soon as I hung up the phone.

For those of you interested enough to read the medical stuff – the link below is probably the most succinct site I found to explain it. For those of you who are not, in a nutshell, I am a carrier of mixed chromosome pairs, which has no effect on me, but a huge potential effect on any pregnancy or baby I may (or may not) have.

So, as a result of the translocation, I have approximately a 70% chance of producing an ‘unbalanced’ egg. A pregnancy with one of these eggs would most likely either not even make it to implantation, or if it did, miscarry in the first trimester.

I would have a 15% chance of producing an egg with the same balanced translocation as myself – which should result in a normal pregnancy – and a 15% chance of producing a completely normal egg and subsequent normal pregnancy.

Add this to my PCOS diagnosis, and things were not looking good at all.

http://www.rarechromo.org/information/other/robertsonian%20translocations%20ftnw.pdf

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Posted on March 25, 2014, in 2014 - The year of living uncomfortably and tagged . Bookmark the permalink. Leave a comment.

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