Most people that know Myself/Terri/The Brodley Bunch, I'm presuming, already have a vague idea of what Cockayne Syndrome (CS) is. When telling people about her condition I tend not to go into too much detail unless the other person is asking questions (probably more the fear of them not giving two shits about what i'm talking about).
I don't mind talking about Terri's condition, nor do I mind answering questions. Someday's talking about it is harder than others.
Before she started to deteriorate, most of the time in our house she was a normal 16 year old. Treat no differently. If she wants something, she gets it herself. If she has an argument to start... trust me, she starts it.
There was even a time when my dad was watching the Formula 1 and she wouldn't stop screaming and being a pain and my dad sat her on the front door step and shut the door. (side note: don't worry we didn't leave her there, I took her upstairs till she shut up). I genuinely believe that if we had bubble wrapped her she wouldn't be here today. The reason she is such a feisty moody witch is because she had to be - and it done her well.
Now, we take everyday as it comes. Some days she will get up and be full of beans others she won't even wake up. Mum will feed her through her tube and change her bum while she sleeps. Some days she just wants held. I don't mind the cuddling bit though, that makes my days.
So this blog post is going to more informative than my brain spew.
I didn't want this to come across like every other post/article I have read on CS with just a listing of the characteristics and symptoms with a big old pile of doom and gloom of the life expectancy slapped in there somewhere.
I remember, prior to diagnosis, my Mum a.k.a Super Mum/Dr. Brodley was researching anything and everything she could. But she couldn't use a computer (she still can't now really, hi & sorry mammy).
Mum: "This is another one, search Cockayne Syndrome" - she spelt it out to me.
GOOGLE: First page that pops up is Wikipedia. Standard.
Mum was reading through it all and then there it was, a picture of a little boy, to this day I can still see it without looking at it. All i remember is thinking, no, there is no way she has that.
Mum kept quiet, she had obviously in her mind already diagnosed Terri. It wasn't for a couple of years we got her diagnosis (that's a whole other story about no communication between paediatricians and crap hospitals).
A short caption to explain CS: -
"Cockayne Syndrome is a rare genetic disorder which causes premature ageing and a shortened life expectancy".
So no, my mum didn't do cocaine while pregnant.
Terri has suffered a lot in her little life. Within her first few years of life she had cataracts removed and been prodded and poked by doctors more times than enough.
At one point, before her gastrostomy tube, she resembled the boy above. It saved her life. I would pick her up to put her in the bath and by the time I had let go my fingers would have bruised her tiny body. It took a fight to get her feeding tube, with doctors accusing my parents of not feeding her - when really, she just wouldn't eat. If we were lucky we would get her to eat some bread stick, a chip and maybe a pea or two. There is no doubt in my mind that if she hadn't got the feeding tube, we wouldn't still have her now.
Throughout the years since she's had the tendons in her legs shaved to allow her to flatten her feet (I just always presumed she was going to be a ballerina), multiple teeth removed from her mouth, anaesthetic just to get a closer look and most recently cochlear implants.
Her cochlear implant operation was probably the most terrified I've been when she's had a procedure done. She had gone completely deaf and was starting to be withdrawn. But was that worth the risk? Every time she would go under anaesthetic it would take her longer and longer to recover, she would struggle to keep her temperature up and would sleep for days. After the operation while at home and sleeping I'd message my mum any chance I got to check if she had woken up yet... going in from work to stroke her face just to see if she would open her eyes.
Mum and Dad made the decision to go ahead... and I am so pleased that they did. I can remember when she first had them switched on, I came home told her I loved her and her response... she hadn't heard my voice or those words for probably about a year...
"I'm going to batter you". That was what she said.
The cochlea's have came in very handy since now she is completely blind in one eye (she has a detached retina - the chance of correction was 0 and her eye is basically dying) and she has little sight in her other eye.
When Terri was first diagnosed we were told her life expectancy would be 12 years old. Every Birthday, Christmas and New Years Eve is bitter sweet forever wondering if it will be the last (I literally hate New Year just for that reason).
But she's still here. And that is all that matters.
My perfectly imperfect Best Friend...
-Jody Patricia
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