KIAA0586.
It looks a little like a car registration, or one of those temporary passwords a website gives you when you get brain freeze and cannot fathom which of the 30 different variants of your password you need, but it is not.
Those numbers and digits are indeed a password, a code, but it is not what you think, That is the gene code where we have a fault/mutation that make us part of the X men family - yet without the advantages of cool mutated genetic powers.
That there is our faulty gene.
As much as I would like to be like professor X never missing a date or appointment because you can cover your backside in a milliseconds by reading someones mind, sadly it is not quite like that (which is a bummer, no lyrca suit for me which in fairness is probably a bonus for the rest of society!)
Instead it means knowing which part of our DNA coding is wrong. It means knowing that you through no fault but love have triggered a syndrome. It is being told that the likelihood of this particular gene being faulty and finding someone who has the same fault is 700,000 to 1 and it suddenly makes winning the lottery seem far more likely *reminds self to buy a ticket for the weekend*.
This is a new gene linked to our child's syndrome which has been pulled out thanks to one of the studies we have taken part in. So far there are very few in the UK with this particular fault but as more children get processed through the DDD study (Desiphering Developmental delays) they believe they will find more and the caseload will grow as more children are screened. (we were part of phase one and the results of a new Joubert Syndrome linked Gene came through after only 4,000 of the participants had been checked).
And now that is it, after 5 years of gene hunting and before that 3 years or simply trying to find the right 'gift tag' for our child's diffculties we are there, "You have reached your destination" as sat nav would put it, and it feels very odd indeed.
A full stop.
The gene is helpful as although the case load is small so far there are things we were told to question with certain specialists and despite Joubert Syndrome having various causative genes each reacts slightly differently causing varients in effects the syndrome has (but then the way in which your genes pair up under the faulty gene also effects this too), so this is always fascinating.
Last year I went to a party, a wonderful party, where some of the guests were in the medical profession. I remember talking to a GP about the syndrome and who was in our care team what was expected etc. and they said
"Do you have any medical training? You sound very confident and medicalised."
And it surprised me. Not in a bad way, but I think it showed just what this wobbly path has done to us. We don't see it, but years around hospitals and various specialist teams changes you. I know more about genetics and biology now than I ever learnt at school - which to be fair was partly my fault as I was more interested in writing in a notebook and passing it round our table than listening to our teacher (would you listen to and willingly trust information given to you by a middle ages man who wore flip flops in December?!).
This has been such a journey and continues to be so as it is far from over. It is a new gene and they will watch how our child develops, out of medical curiosity more than anything but it is curiosity that changes, teaches and inspires. Our child has proved that in his own time in his own way he can do and will do anything, and that is cool. He has made friends who defend and love him as he is and will go on to be adults with positive opinions about disability and difference that he helped to shape - they will not be frightened of it, which fills me with pride.
And as a couple I think in honesty the conversations we have had and decisions we continue to make have the potential to rip the family open, but we still stand united. Disagreeing on an action to support your child or feeling 2 ways about an appointment, juggling hope, fear and normality is exhausting but you must resolve your differences... there is no choice. You have to be resilient. You have to work together.
I do not think it has made us stronger than we were, and there are times when the foundations have shaken slightly, but I think it has truly made us a Team. We are not just husband and wife, not just parents... but decision makers, fighters, challengers, medical sponges, carers and if one half falls they are held up by the other, sometimes physically or by letting them buy yet more converse shoes and handing them a chinese menu!
KIAA0586 did this.
It made us grow.
It made us love harder.
It made us talk more truthfully.
It made us who we now are.
Faults in anything suck - washing machines, hoovers, starter motors... it is a pain in the ass when they break. A fault in a bridge creates weakness and faults on the earths crust can turn lives upside down in a heartbeat... but this fault, KIAA0586, this break in our DNA has not weakened us, and our lives are not unrecognisable from most... for us this fault has far from broken us, it has somehow made us stronger.
