It Is Just a Piece of Paper

I see the envelope in my letter box, marked with their logo of blue, glistening as the sun catches the corner .  His name glows like a beacon on the white paper, bouncing from the page into my heart.

Mast. Caelan Tatton.

I realise instantly what I am holding in my hands, but I refrain from opening.  I have somewhere to be, and no time.  My heart is pounding between my ears.  What if yes? What if no?  What if, what if, what if?!

Parking the car, I bear it no longer and slide my keys through the paper as a makeshift letter-opener, ripping and tearing at the seal.  The paper within is yellow, soft and buttery with a stark white cover letter. I read the cover letter  - a single sentence – and the words bounce through my head.

“Please discuss with your specialist at your next appointment”.  It says nothing and everything all at once.

Sitting down I dare turn the cover page over. I cannot hear the conversation around me, and my mind is focussed simply on digesting what is emblazoned on that pastel sunshiney paper.

All I can absorb, no matter how many times I try to get the details from the letter within my hands, is a simple phrase repeating itself over and over and over in my head.  Echoing and bouncing through my mind and my heart, richocheting through my limbs, my fingers, my toes.  I catch my breath as the realisation dawned on me.  I was right.

Chromosomal Abnormality.

Part of me wishes to fist pump the air, while another begs to collapse in a pile.  Ner ner ner ner ner…  I told you so!

I told you so…

I attempt to google, but it is futile.  My mind is not ready and I put the phone away.  I try and focus on the rest of the day, but with the occasional flash of numbers and words interrupting thoughts, I find am distracted and head to a friend’s house.  I am greeted with warmth and joy, small chatter that lifts the fog swirling in my mind.  We consult Dr Google and I look up Facebook support groups.  I memorise the numbers. Repeating them over and over in my head.  They are part of me now.  Part of my story. Part of his story.

arr 22q13.32 (48, 685, 628-49, 010, 207)x3.

Or 22q13.32 Duplication for short. It is rare. Rare enough to not have a colloquial name. Not like Down Syndrome, or William’s Syndrome, or DiGeorge Syndrome.  It is simply 22q13.32 Duplication.  And don’t get it confused with 22q13 Deletion. They are not the same.  That is Phelan-McDermit Syndrome.  There is slightly more information about that, but still not enough.  No matter what I read, it is not enough!

I inhale the words from the screen.  I have read what I can.  Though each night I try to read more.  I have been accepted with open arms to communities that may help us – sharing information, factual, anecdotal, researched and suspected.  He is young. One of the youngest diagnosed.  Most are at least 2-3 before they are given their numbers.  My mama instinct has helped.  Early Intervention may play a part.

I was right. There was something “Not Quite Right”.

We ask “what does it mean?” of ourselves and of others.  And of course, others ask it of us.  Puzzlement and a shrugging of shoulders.  He is young.  We do not know.  It may not mean anything or it may mean everything.  It is all just a course of riddles and confusion.

And many answers.  There are so many answers in those numbers.  Answers to 6 months of questions and worry.

Phone calls are made, asking to speak to new paediatricians, or genetic counsellors, our social workers.  I am struggling to know which way to turn.  The paediatrician we have seen previously dismissed my concerns and never returns my phonecalls.  I want someone new. I wait for more calls.  Thoughts of Avery float through my mind.

They never could grow his chromosomes.  We never will know.  But we do know with Caelan. Be cause I was right.

I hold him close and stare into his beautiful face and am greeted by that glorious smile.  The smile that lights up his entire body and the entire room.  The smile that 22q13.32 Duplication is likely to have given him.  The smile that beams an exuberant love of all people, friends and strangers.  The smile that takes your breath away.

What does this all mean?  The words tumble around in my gut.  What of his future, what is to be made of all these numbers? There are scary things floating through some of the fact sheets, and it is a lot to swallow.  What does this mean for all of us?

I hold him close to my chest and inhale his scent, sending it deep into my cells.  It means he is my son.  A beautiful boy who is exactly who he needs to be. Life did not change when I opened that envelope. He is the person he was before it arrived.  The boy we love with all of our hearts.  The boy we are blessed to have.

Nothing has changed.

After all, it is just a piece of paper.

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12 Comments

1
Tuesday 8 October 2013 - 5:32 am

<3. Numbers or no numbers, we love that little boy, that glorious smile xx

2
Robyn Coopstock
Tuesday 8 October 2013 - 5:49 am

Much love to you all Kristie. Fuller reply is circling in my head and not quite making it into sentences, so for now lots of love.

3
bernie
Tuesday 8 October 2013 - 6:45 am

he is your son.. and he is beautiful.. and just the way the universe intended him to be.. he is perfect..
You and your family can face anything K.. you have faced the best and the worst life can throw at you .. and you face it with dignity and grace.
You are surrounded by people ( IRL and internet land) that love and cherish C.. and we will be there for you.. no matter what..
sending much love to you my beautiful friend..

xoxo

4
Funkylamb
Tuesday 8 October 2013 - 7:07 am

And what a gift that smile is! Sending you my love honey, I’m sure you’ll face this with your usual grace and good humour but if you don’t feel like being strong, text me and I’ll bring you cake. Xx

5
Tuesday 8 October 2013 - 7:33 am

Thinking of you . My son has a genetic disease (& I) and when I knew I was overwhelmed and devastated but I came to the same conclusion.
It didn’t change anything and together we will meet any challenges as they arise.

6
Nicki
Tuesday 8 October 2013 - 8:52 am

We have never found the genetic cause of our daughters medical issues and yet everyone knows it’s a genetic condition, and at first I was obsessed with getting answers for her thinking knowing would make it okay, easier to understand. While some of that is true the realisation that you and many of us come to is so very true. They are just them, nothing changes when you know you where right, when that Mumma gut has been proven right, nothing that matters anyway.
They are them, or to copy Dr Suess the are there is nothing more amazing than being youer than you :)
Take time to breath, give your self time to absorb and process , it’s even okay to mourn this diagnosis, it doesn’t mean you love him any less.
He who he was yesterday, the day before and who he was the first time you held him, a diagnosis is not who you child is. Much lovexxx

7
Cally
Tuesday 8 October 2013 - 9:22 am

Hi
It is a feeling of grief but at least you know now why your beautiful and special boy is how he is. I am a mother to a son who is vision impaired, has other issues and we don’t know why he is why he is.
I have heard of the deletion you are talking about there was a web page I saw when I was researching for my son.

Caelan is a beautiful boy and knowing early means the best outcomes for him

8
Liisa Kersevani
Tuesday 8 October 2013 - 11:57 am

He is the boy that we have ALL fallen in love with. The boy who, maybe because he loves everyone and everything, has everyone and everything in love with him. The boy who generates love and joy just by being in the same world he exists in.

The boy who was born into the perfect family to help him with whatever challenges he faces.

Off to do some googling myself, but please let me know if there is anything I can do for you guys Xxx

9
Tuesday 8 October 2013 - 12:44 pm

Beautiful

10
Wednesday 9 October 2013 - 6:24 pm

Hi,
I feel your pain…
I have been given that kind of news too.
Although verbally.
3 out of my 7 children also have a rare chromosome disorder.
(And I carry it/have it too).
Ours is Duplication 15q 13-11 … less than 1000 registered cases worldwide.
My Mum instinct told me for years that it had to be “something” that cause 3 out of 7 children to all have similar additional needs.
But it wasnt until my eldest son – and then 6 years after his death – that we finally got an answer.
Some people don’t like getting labels/diagnosis’. But for us it has given us answers and pointed us in the right direction for further tests/check ups..
Plus given us a heads up to know that kids with Dup15q are at a higher risk of sudden death … and that is what happened to my eldest son.

I send you lots of hugs and positive vibes as you go through the motions…

Take care

11
Philippa
Thursday 10 October 2013 - 7:31 am

So much love, this must be huge news to process. What a precious little man he is and with the perfect family/mama.

12
dawn
Friday 18 October 2013 - 8:17 am

That gorgeous boy of yours, fills my heart with joy everytime I see his beautiful smile. Whatever challenges he may face know that you will always have love and support xx



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