Write Like No One's Watching: It's all in my genes...

Tuesday, 13 December 2011

It's all in my genes...

This whole pregnancy thing has been a rollercoaster of ups and downs so far, but from the beginning I knew I'd always have a few extra hurdles to scale, as well as the usual sickness, tiredness and general feeling shite-ness.

I was born with a cleft palate and Marshall Stickler Syndrome. It's not often that people know what this means or what it is, so medically speaking:

A cleft palate is a "variation of a type of clefting congenital deformity caused by abnormal facial development during gestation. A cleft is a fissure or opening—a gap. It is the non-fusion of the body's natural structures that form before birth. Approximately one in 700 children born have a cleft lip and/or a cleft palate."

I was born with an incomplete cleft palate, which is probably the easiest to fix from a surgical-perspective. I didn't have the easiest start in the world, and I had several operations to try and fix my cleft, along with speech therapy to correct my speech.

With my syndrome, I didn't suffer too badly. It's essentially a genetic disorder of the connective tissue which can affect the eyes, joints, mouth and facial structures. Hence why I have perhaps flatter features than others; with what is described as a "French nose" and "cute" features. Some babies are known to be born with learning difficulties or with severe hearing or sight impediments. Symptoms also include arthritis and hyperextensibility (double-jointedness).

As I write this it makes my head spin because it is all so confusing!

I was a genetic mutation (not quite at X Men standard) so, at birth, they didn't realise that I had a cleft palate or the syndrome, so I struggled a lot to breathe once I arrived by ceasarian section and as far as I know my heart stopped for a short while. I'm absolutely fine now and since then I've had glasses and grown out of them and I've had a hearing aid and grown out of that too. I even sported a sexy pair of orthapedic shoes when my arthritis kicked in as a child. But, I'm fine. I'm not just fine actually, I'm great.

My only worry is that any child of mine has a 50% chance of being born with the same syndrome. At least I have the chance to prepare, unlike my parents who describe my birth as one of the hardest moments in their lives.

Last week, me and Stephen had genetic counselling. It was basically to inform us and prepare us for the future and for baby and for birth. I went in shaking - Stephen will vouch for me. I was frightened. I was scared. And, stupidly, I couldn't help but blame myself. They are my dodgy genes afterall.

We arrived at the HUGE St Mary's Hospital in Manchester and waited nervously in the waiting room. I had a few wees - a combination of nerves and a baby that likes to use my bladder as a trampoline.

Finally, we were called in and the door was shut and it all started.

We discussed me in detail - something I was quite at home with. I love talking about myself - can you tell? I was shocked to find that they had a huge file on me from when I was born and that they even pulled out my genetic family tree that was so old that my little brother wasn't even on it! He's 21 now. We updated the details, adding James and Stephen to the genetic tree of life and then I was asked if they could take photographs of me to show other doctors and surgeons who worked with me as a baby - they were still there today and information about me would prove valuable to their own research as such a good-case scenario. I was blown away and had to stop myself from laughing as I held open my mouth so my scar could be photographed.

Then, once that was over, we talked about baby.

A good hour later, we emerged. Smiling.

Baby's worst-case scenario, as it turns out, is to be just like its mother. I can't pass anything on that I don't have and cleft palates and Marshall Stickler Syndrome are much better catered for these days than when I was born.

And if another little me is the worst-case scenario - we're fine with that.

6 comments:

  1. Glad to hear you got some good news! And that you're taking it all in your stride :)

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  2. My cousin was born with a very bad cleft lip/palette, he is 18 now and you would barely know. They really can work miracles! Glad to hear that you are reassured, and I hope you and the bladder bouncing baby have a great Christmas!!x

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  3. And you are just lovely! I just found your blog today and so glad i did!

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  4. There ain't nothing wrong with you baby, little bubba will be just fine. Do you have a baby bump yet? Get a pic on! I want to ooooh and aaaaah at it! xxx

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  5. Sounds like your way of thinking is just perfect.

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