Thursday, 2 December 2010

Even More Special

A couple of times along the way, I've talked about how sometimes, all this genetic disorder stuff feels like my own dramatic construct.  It's partly as a result of being so alone through the pregnancy and until our diagnosis at 9 months; partly because of how successful my boy is; partly because every diagnosis he has, has come from me pointing doctors towards it; partly because I often mix up dreams and reality and partly because I work with words and stories and that's a natural place for my thinking.  My therapist says it's also a way for me to beat myself up, as I am often wont to do, picking away to try and find that I've somehow mucked it up.

Recently it's all felt like it's been working however.  The family around us finally not so scared, the family who weren't scared knowing even more through attending conferences and sharing in my updates from my registry chums.  We were even lucky enough to open our home to friends and families who genetically match our little boy.  Enjoying the emotion and non-virtual hugs, support, tears and laughter that ensued.

I'm even close to getting a paediatrician and as part of the process have been merrily selecting information to send.  Precipitated by my GP and the wonderful admin team there, helping me to feel like I almost have a team.  Which in turn helped me to pull from the "denial archive" some of the handouts I got at conference and look them square in the face, working out which will be helpful to my newly assembling team. So, there I am, being all efficient, when I decide to contact the impressive Dr Jannine Cody to find out if they've analysed our samples and added my boy to the pretty picture showing the break points.

In a wonderfully clear and supportive email back I hear something I am absolutely not expecting. That in his sample he almost definitely has a duplication from a whole different chromosome going on, alongside his already identified missing bit from his 18p arm. 

For reasons quite beyond me I am very fuzzy about how I feel about this.  It needs confirming so I'm already contacting the geneticist at GOSH who was so lovely and helpful all those years ago.  But I'm reeling a little because having thought I got it all, it now seems that there's even more to learn. Now I realise that this is what life is all about and especially as a parent of a "special" kid, constantly looking and learning whilst trying to relax into your normal everyday routine.

But I love neatness. 
I love knowing how to explain things, to myself and then the people beyond me. 
So for the first time in a few years, and I know this is all a bit previous as it's still unconfirmed, I feel quite confused again.

Not traumatised, or upset, or negative or depressed.....but, very patently and tangibly, confused.
At my own reaction, at the path ahead and as to whether anything, really, is any different at all.

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