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.
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.