When we finally received Terri's diagnoses I can only imagine how alone and scared my Mum and Dad felt.
They were taken into a room in the Hospital, where the doctors locked the door behind them and were given the news.
"your child has Cockayne Syndrome a rare genetic disorder,
we don't know much about it
so go home and look it up on the internet".
That is how they were told. They then had to drive home from Newcastle, with no idea what the future would hold for Terri or whether she would even have one. And when my Dad asked the question about life expectancy, all they could say was "She wont live as long as her Brother and Sister."
That was it.
After her diagnosis and informing her school one of Terri's amazing teachers looked into the syndrome herself and stumbled upon Amy and Friends. She got in touch with Jayne Hughes (the fairy godmother of CS). She passed these details on to my Mum and said there was support out there for us... if we wanted it.
I think it took my Mum and Dad a while to contact Amy & Friends, Terri was diagnosed in the April and Mum phoned Jayne in the November - and from then on the rest is history. I suppose it was the fear of the unknown, whether we wanted to know more or whether we were happy in our own little Brodley bubble.
The day Mum phoned was the 30th November 2008. She spoke to Mark (the godfather of CS) and was told that Jayne was away with Amy at the X Factor - she was meeting them all, getting sang to by JLS. Later that night Jayne called my mum back, the beginning of meeting out extended forever family.
We met at Lancaster, half way, with a few other families. And it was like we had known each other forever. Those people I met all those years ago now are still people I call friends and some are like brothers and sisters. We only see each other once a year but when we are together it is like we have never been apart.
Some of these people I have actually now known and been closer to for longer than the people at home that I call my friends and its crazy. There is nothing I wouldn't tell them. At the medical conferences we attend every year we cry and cuddle like we've known each other forever. We talk and mess around like we know the ins-and-outs of each others lives entirely.
We have attended the medical conference every year since and make the most amazing memories. It is a time for Mum and Dad to relax and speak to people they have the world in common with. It is a chance for Terri to play with children the same as her.
Terri has always been oblivious to being different, but at the retreat - she stood and looked at a little girl, pointed at her, turned to face us and went "She looks like me". That was the first time she had ever said anything like that. And it melted my heart.
It's a homely feeling. Meeting people who are going through the same as yourself, its a mix of emotions. In some moments we are sad, but the majority of the time we are laughing, making memories and lining up to have cuddles with the children. I remember meeting the families for the first time and feeling understood and recognising children that looked like Terri.
We weren't alone anymore.
Amy & Friends is a support system I can't imagine my life without. Our life would be very different if it wasn't from the guidance, advice and love we have received from them. When we first met, we were only kids, I was only 13. But now 10 years on, all those people I met in 2008 are adults too.
Some families will chose not to contact these support systems, and that is ok too, I just think it is nice for them to know that there is someone there for them if they decide they are ready.
It is hard, watching so many beautiful children grow up and fade away. You come to know and love them, even just in them few days we got together. I have cried happy and sad tears through knowing all these beautiful families and children.
If you have spent much time looking into CS or follow the Facebook pages, support groups you will have seen butterflies often used. Butterflies spend the first part of their life in a chrysalis, wrapped, tight and when they grown their wings they are free.
When a child with Cockayne Syndrome
goes in to their forever sleep we say
they have grown their wings and
became a butterfly.
They have spent their life being held back by their own bodies and are now free. Free of pain. Free of hurt. This is a comfort, that we never would have had without Amy and Friends.
Free of Cockayne Syndrome.
-Jody Patricia
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