Across the world in seven days

It’s hard to describe the feeling. The feeling when you walk into a room full of strangers who you instantly recognise as family. People from all corners of the globe who are linked intimately with you through random happenstance (I only just learnt that was an actual word- I LOVE IT). People who get it, who face the same struggles daily and who understand, really understand, how crazy life is without you ever having to utter a syllable. Last week I had the incredible opportunity to attend my second conference for families affected by dup15q syndrome, the rare chromosome disorder my son B has. The dup15q expresses itself differently in different individuals, but the overarching symptoms are the same throughout- low muscle tone, autistic features, communication difficulties, sensory processing disorders, cognitive disabilities and seizures. Living with this cocktail of issues is hard, and a big part of that difficulty is the isolation factor. Families with kids of the same age are now able to do things that are just impossible for us with B, and while we have a handful of friends who love us whirlwind chaos and all, our life is on a whole different trajectory. Sometimes that path sucks balls, I’ll be honest, and other times I wouldn’t wish for anything else.

The conference was amazing for a few reasons, and ironically challenging for those very same reasons. Learning more about the condition from people who are constantly researching was inspiring to say the least, but navigating the extreme cultural differences took a lot of effort. Our NHS in Britain is undoubtedly a broken system, but a system I am eternally grateful for none-the-less, and something I utterly believe in to the core of my being. Over in the States insurance is everything, and your level of healthcare depends on the premium you are able to afford. I still don’t fully comprehend it, but there is a chasm of difference in the way the two systems operate. As a result (and I’m speaking from my limited perspective only) more drugs are available over there, and  patients can ask for procedures which would be considered unnecessary over here. Here I battle to get an EEG done regardless of the fact B has not had a single seizure-free day since his epilepsy started, and he falls too far outside the box for anyone to really understand what’s going on with him. BUT all our care is free, for which I am hugely grateful, and I still stand by the socialist ideal of every person, regardless of social status, being equally able to access good healthcare. That being said, our government are pulling money from all the wrong places right now, health and social care bearing the brunt of those so called ‘austerity’ cuts. Before I go off on my political high horse, I’ll steer it back to the conference! This cultural difference was tricky to helm, especially because I was one of only a few non-Americans, and of those, the only Brit. The whole time I spent there involved sifting through and taking away the info that I thought was most useful to communicate to B’s team over here. I’m hoping they want to listen, because I honestly don’t want to shout.

I’m not an easy crier- anyone who knows me will know that. Bit of a heartless bitch if truth be told; a product of background, circumstance and temperament. I have no issue being me, but from what I could gather at the conference I was again in the minority on this one. From day one the raw emotion in the sessions was tangible; healthily so- being there is like coming home, the kind of special camaraderie that only comes from shared experience. The shared experience of a life you never imagined or planned for. But I will admit, there was one moment that had me sobbing. On the third afternoon a documentary following four families living with dup15q syndrome premiered (to watch, please head here). It was beautifully done; honest but hopeful, raw but real, and gave a gritty glimpse into the issues our families face daily. One of the children on the video had intractable (difficult to treat) seizures, similar to B, and happened to have a seizure on camera. Watching B have seizures is part and parcel of my everyday; I’m almost immune to the emotional impact, mainly because I have to function. If I lost it every time I saw B seize, I’d be a dysfunctional mess- something I simply can’t afford to be. Watching someone else’s kid go through what we see daily was another thing entirely though; it hit me like a brick. As I dissolved into tears, so did my friends around me, and the genuine shared sorrow was something that I will never forget. In that moment, the isolation evaporated. These people got it, and they were hurting because I was hurting- pissed off at the shit deal our kids get. There were no clichés in sight-just extreme empathy- no words necessary.

Being a self-confessed geek the science meetings were right up my street. Learning about the mouse models they have created which over-express the same region duplicated in the affected kids was fascinating. One step closer to creating pharmaceutical intervention (meds) to combat the specific gene over-expression. Amazing stuff. There is constant research going on, research which may, in a few years, offer us a real solution to the varying issues our children face. Awareness raising in the meantime is key- something I do through blogging and through conversations with those of you I see face to face. Something I hope you all don't get utterly fed up with.... but hey, welcome to our life! 

We constantly walk the line between wanting B to be the best he can possibly be, to reach his potential (something we want for ALL our children), and acceptance of where he is right now. I wouldn’t change him for the world; if I took away his genetic condition he wouldn’t be him. Do I hate seizures? Fuck, yes. I’d take them away in a heartbeat if I could. And the other medical bits that are unfair and make life tricky? Yeah, they suck. But the essence of who he is, the genetic hardwiring written into every cell in his body? Honestly, I wouldn’t swap that for the world. The kids I met at conference reminded me again what it is to be human, stripped back and laid bare. They are all incredible, awe-inspiring individuals, precious just as they are. What’s messed up is society’s idea that worth is based on contribution, or looks, or academic ability. Bollocks to all that. As Einstein once said “What can be counted doesn’t always count, and what counts cannot always be counted.” Never have truer words been spoken. Our kids count. Not as an afterthought, or a pity-thought, but as people who can teach us a hell of a lot about the real deal with life.

Big thanks to all of you who share this journey with us- we need you. Especially when we appear to be coping, we need you. We’re experts at looking like we’re managing when actually it’s constantly ninety miles an hour just to stand still. But just remember too- you need B. You’re all lucky, as are we, to have a kiddo like him in your life. He has a heck of a lot to teach us all. Get involved! You’re always welcome…. :D


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