Monday 4 November 2013

The day my world began to crumble.....

As to be expected, I was so excited for my forthcoming 20 week "gender" scan, not only because it meant I was half way there to meeting my little baby, but to find out if we were having a girl or boy? pink or blue? ballerina or footballer? Our wedding was creeping up fast (3 weeks after this scan) where we had planned a balloon explosion with pink or blue balloons announcing the gender of little  one. I had visions of me in my white dress being twirled by my new husband under a veil of confetti and balloons, everyone gasping and cheering when they found out which "team" we were on. Little did I know this is all it would ever be, a vision, and now a completely irrelevant one.

Let me just note... As you know this was my first pregnancy, any information given to me with regards to what a 20 week ANOMALY scan entailed was given to me in not much detail at my first midwife appointment 14 weeks prior to actually having it. I did not know how in depth the scan would be with regards to measurements etc, I merely thought, as many first time expectant mothers do I've come to realise, that they would check the heart (which I knew was grand having used my Doppler) make sure everything looked normal ,tell me the sex and that's it. Off on our merry way. Don't they say ignorance is bliss? I really wish I'd been a bit more informed before we went into that room.....

Sitting waiting for the scan, for what reason I will never know, I turned to my partner and said I was scared. Completely out of the blue. I was feeling fine, no problems...like I said was blissfully unaware what was going on...I can't explain why I said it. Lying on the bed, bubs was found quickly once again, sleeping away all cosied up, we even got a little yawn. Heart beat, brain, all organs were looking good but the little tinker was in an awkward position to take other measurements and wasn't budging. So after some gentle persuasion, a little jostle and me wriggling around a bit he eventually moved and the lady continued with her measurements.

This was it. The moment I will never forget. She seemed to take a long time with the measurements, but again I was unaware what to expect so it could have been normal for all I knew? Then she turned to me and said "There's a problem with the babies limbs"....I didn't understand, I asked what she meant. She explained that the femurs were measuring 3-4 weeks behind the rest of his body and we needed to see a consultant straight away. She asked if at this stage we wanted to know the gender...I knew I did and she said "It looks like a boy". My instincts had been right all along. She left the room to speak with him and I broke down. My OH was comforting me and all I could think of was "no, she's got it wrong" He was in a funny position, she couldn't take the measurements properly. He's fine, I'm fine.

A consultant took us to another room where I sat in a haze of what's happening? He went on to explain that Harry (we had chosen this name from the beginning of the pregnancy) wasn't developing as he should be. All 4 limbs were affected, the long bones in his legs and arms were measuring too short. He said his initial diagnosis would be Achondroplasia, or dwarfism as most people would know it as, but that we would be referred up to specialists at the RVI in Newcastle in foetal medicine for a second opinion.

I left in a daze. How could this be happening? They must have it wrong....We'll go for a second opinion and he'll be in a better position and everything will be fine. At the time both mine and my OH's mam's were out the country on holiday which was also difficult. In the confusion we left the hospital without any scan pictures...but luckily the midwife we saw was lovely and offered to bring some copies to our home for us. Staring at the picture it was hard to believe anything was wrong, he looked perfect to me and so cute. My heart melted every time I looked at it (and still does...)



I googled for hours, what was Achondroplasia? Is it something he could live with? Of course I found a lot of information, and started to relax after the initial shock and came around to the thought that of course he will be fine! How many people are living perfectly happy lives with this condition? He'll be a little shorter than most people, but so what? He's my son and I'll love him and support him with everything I have!

How I wish this had been the case. Nothing could prepare me for what the next few days held for us.....

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