THURSDAY 27TH SEPTEMBER 2012...The day our life flip turned upside down (and not in a fresh prince of Bel Air kind of way!). The day we received the diagnosis that our unborn baby had MONOSOMY X ~ Turner Syndrome. Support was limited, Google was a scarefest, and all that stuck in our minds was that our baby was most likely to die.
Fast forward nearly 7 years, and oh my we have the MOST incredible girl: fiery, funny, loving, stubborn, athletic, caring, cake-monster, vocab beyond her years, and sporting the most beautiful curly bonce. We couldn't be any luckier, and thank God for giving such a gift to us as a family.
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So, you all know how passionate we are about Turner Syndrome/our little G/our Turner Syndrome family....pretty please just do one thing for us over the next 24 hours - refresh yourselves on what Turner Syndrome is and perhaps share your knowledge with someone you know!
Much love xx
P.S. Our little G is doing amazingly well - an ENT appointment tomorrow to make a decision on grommets, and then 4 remaining weeks at school in Year 1 ! How time flies.
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Watch this, pretty please <3 https://www.youtube.com/watch?v=rXAR5nqXDkQ
BACK TO AN OLD POST FROM 2012...
Our Turner Syndrome Q & A
Was it something that we 'did' ? Almost instantly we found out the answer to this was no, it was pure fluke or whatever you wish to call it.
How many pregnancies does it affect? Around 1 in 2500.
Will it happen to us again? The chances are extremely slim.
Will our child be able to live a 'normal' life? Many people with Turner Syndrome go on to live a happy and fulfilled life. They will face some challenges that others don't, but to what extent will depend.
If the pregnancy makes it past half way are the chances of survival better? There are no statistics to support this. In fact, no statistics other than 98/99% end in miscarriage or stillbirth, seemed to exist. That one keeps haunting me.
How many people in the uk have Turner Syndrome? Around 10,000
So you may be wondering what Turner Syndrome is, or involves. We won't go in to great detail here as many pages (such as NHS and TSSSuk) will have much better info. For us the key info is:
- Our baby is a GIRL- yay!
- She is missing one of the sex chromosomes, so only has 1 x in pair 23
- She will have growth problems, without treatment most girls are between 4ft 4 and 4ft 10 at full height (though as her daddy is a shortie-no one will guess!)
- She will need hormone treatment, possibly injections, possibly for much of childhood and teen years
- She will have fertility issues
- Heart problems are a potentially major complication during pregnancy, and possibly after
There is a list longer than my arm of other potential problems -speech, ears, maths, spatial, social...... HOWEVER these are only potential problems, and could also affect Joe Bloggs.
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