Wednesday, 4 June 2014

My Seven Year Itch

I like coming back here on June 4th each year, writing, thinking, another year on from the day our special boy was diagnosed as having magic DNA.

As I've said before, I will never be able to forget the run up to diagnosis and that awful lonely day 7 years ago, when they told me the words that would prove to be so momentous to our lives.
18p deletion.

It is particularly poignant that this week is the first ever Rare Chromosome Disorder Awareness Week, highlighted by the amazing charity Unique. The people who reached out then and still quietly sit, ready for when I go back and ask, is there anyone else on the records like him yet?

As fortunate as I now feel, I know that I will never act like a normal parent. I will also never underestimate how lucky we all are to still be a family, still be a happy healthy foursome and still be living a relatively normal life.

And I know something very strongly - that if it all gets harder from here and normality slips away again, how grateful I am for having been taken off red alert for a while, allowing me to rebuild, heal and refill my stock of energy, tenaciousness and charm.

Above all tonight I feel lucky to have our amazing 7 year old, who plays for the local cricket team, and gets past the first hurdle in the local football team trials, who regales me with facts about aluminium and orang-utans and pokemon and football, who hoots with laughter and charms us all with his smiles and happy approach to life.  Who works harder to do all the things that he does that make him look so typical, and yet never really understands what a hero he is.

From that terribly sick baby to someone still extremely complicated on paper, what sings and shouts out loud right now is him, our successful, happy, healthy and glorious boy.

There will always be the hard stuff behind the sparkles and smiles. 7 years on and into a new phase of development, things ARE changing, slowly, imperceptibly maybe, and I can feel the sands shifting.

The new quiet in the playground each morning, a result of a school trip that perhaps was too much for him and which has left him struggling to hold his own with his confident loud friends.

Or our trip to hospital last week and the paediatrician who told me twice how kind I was to be so patient in repeating our story, and filling him in on who we see for what and why.  How is it that I hadn't even noticed that three years on from finally getting a paediatrician to help, I have not seen the same person twice.

Which means that there is still nobody but me who can draw a line through all the different things that need attention.  This one crappy glitch in the system is something that, if I think about it too long, brings the tears and tiredness to the forefront because it is all still up to me....

To say yes to every medical study, no matter how upsetting the things that get thrown up have been.
To ask for changes and help in our daily treatment, but to have to wait for 6 months to follow up on any action points and not know who will be listening.
To see his phobia of needles suddenly require a play therapist to help.
To hear words like social motivation and issues and flags used in the same sentence and not know who to talk to about it.
To search for innovative ways to replicate physiotherapy for the low muscle tone issues that aren't really going away.
To see that the anxiety is loud enough for even his strong daddy to resort to the mantras and chants that I have been whispering into his ears for as long as I can remember.

I am brave and I can do it

We are brave and we are doing it

7 years on and we're still doing it.

Grateful, tired, happy and hopeful are we.


  1. Beautiful Sara. Really echoes what I too go through daily with my little monkey (18q). Wonderfully written and honest x

  2. Thank you Aoife, so kind of you to say and all power to you and yours xx