I am a carrier of Cockayne Syndrome.
That buggered little gene is in me too. And it is literally the weight of the world.
To have Cockayne Syndrome you need to have both a mother and father that carry the faulty gene - these couples then have a 1 in 4 chance of having a child with CS. Terri was the unlucky sausage.
Mum and Dad would never have known they were carriers of the gene if they had decided to not have anymore children after me an Lee. Over the years my Mum lost a few babies, with one she was, i think, near enough 5/6 months pregnant. The day before my christening she lost another baby. I've never known a woman as strong as my Mum.
When we talk about Mums pregnancies we now think that those babies might have had CS and just weren't strong enough.
But Terri made it. Along with me and Lee.
I decided to get tested to see if I carry the gene, and since we knew which of Terri's genes had the mistake, it was simple for the clinic to test.
My Mum and Dad both have a fault in there ERCC6 gene, Terri got both, I got one.
I remember getting the results. I was at work, I told Dad just to open the letter because I wasn't expecting the results for another couple of weeks. But they were there. On the second page.
Dad sent me a picture of the letter. I shook, work sent me to get myself a bottle of coke and chocolate bar since I couldn't stop crying and shaking. Mum and Dad phoned me to check I was ok. I don't know what I was expecting when I got the results. But I suppose they say you don't know how you'll react until it is happening.
I have never been career driven or wanted to travel... I have always and always will be a home bird who wants a family of her own. I can't think of anything better. My dreams were maybe not how my life would go.
The chance of me having a baby with someone who also carries the gene is probably one in a million. But my Mam and Dad managed to do it, along with many other couples. If I was to ever decide I was ready to start a family there would be the option then for my partner to be tested.
But would it make a difference to my decision to want my own family? Would I choose to abort a pregnancy with the chance of me having a child with CS?
Personally, no, I wouldn't. But it is a decision now that not only I would have to consider, but if I have healthy children myself, they would have to. They could be carriers too.
All it takes for Cockayne Syndrome is that one little mistake in one of two genes. ERCC6 and ERCC8. That's it. There are three different types of CS.
Terri has Type 1. With the life expectancy of 12 and symptoms and development slowing down from her toddler years and some symptoms existing at birth.
Type 2 is where the children don't develop much from birth and don't usually make it out of their toddler years and never develop enough to walk/talk.
Type 3 is classed as late onset. These children will often begin to develop normally and then begin to deteriorate.
In my eyes - all are just as severe. Life expectancy doesn't make any worse than the other.
Something came into my mind a few months ago and it all came into perspective. For you to understand the relevance of the blog/dealing with CS. I realise it is blunt, but it is the truth. And why, all because of 1 gene.
I am spending my sisters life telling
people that she's dying and after,
I'll have to tell people she isn't here anymore
and it is terrifying.
-Jody Patricia
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