Coming Back To Earth: 13th to 15th December 2013

CaptureContinuing in the theme and spirit of “life goes on”, I decided to go to Bushwackers in town for my work Christmas do on December 13th.  I didn’t feel like it at all, but like everything else I decided to be brave and face it head on, and I was really glad I went.

It was lovely to see everyone and have a good laugh, and join in with Christmas Jumper Day.  I had bought one from Primark earlier in the week and it helped to get me into the Christmas spirit a bit, as did pulling some crackers and listening to come Christmas songs.  But I couldn’t stop thinking about Frankie, he was always on my mind and in my heart.

The food was lovely at Bushwackers, and the company was great too.  It was the first time I’d been out properly with people having only been with my husband and parents over the last few weeks apart from the funeral, and it was great to just chill out and enjoy something festive.  When everyone started to go round various pubs in Worcester I called it a night, I wasn’t drinking and going round lots of pubs isn’t really my scene, but I wasn’t the only one as Matt, Donna and Karen left when I did leaving the others to carry on drinking.  I got as far as the Slug and Lettuce in Worcester before I called my husband and asked him to come and pick me up.  There is only so much diet coke I could drink.

Then over the weekend I set about doing as much research as I could on chromosome 15 duplication syndrome, but the majority of information online was written in a very clinical way and wasn’t too easy to understand.  And there was no information in the UK about the condition apart from a factsheet on the website www.rarechromo.co.uk.  I did however find a website in the States called www.dup15q.org that had lots of information on it, and after reading it all I can honestly say that if Frankie had had Downs Syndrome it would have been a walk in the park compared to everything he would have had with chromosome 15 duplication syndrome.

Having an amniocentisis test is a very emotive issue, and it cannot be forced upon a pregnant woman because there is a 1 in 100 risk of miscarriage having the test.  But I wonder whether I would have known about Frankie’s condition earlier if I’d had the test done at 15 weeks when it is usually done.  Now I am kicking myself about not having the test done then, but having had six miscarriages in the past I thought it was too much of a risk to have it done.

But I would like to raise awareness of the importance of having the test, particularly if a pregnant woman is over 35 when the risk of abnormalities in an unborn baby increases.  It not only picks up on the main syndromes such as Downs, Edwards, Patau’s and Turners but during the full karotype test it can look at the whole range of chromosomes and whether there are any problems with any of them.

I know I wish I’d had the test a lot sooner than I did.

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