We're going to catch a big one,
What a beautiful day,
We're not scared .... *
Picture the scene, I'm sat at the laptop,
glass of wine cup of tea in hand, tweeting about life with an undiagnosed child. It's part of the regular 'twitter takeover' that SWAN UK hosts each Wednesday evening (8pm - 10pm) where members of SWAN UK share their own experiences of searching for a diagnosis to help raise awareness. I tweeted about Hugh's unusual results and the tests we'd undergone in the hope of finding the cause of his difficulties. Two hours and countless replies and retweets later, I congratulated myself on a job well done.
Shortly after, I spotted a private message to Hugh's facebook page. "I saw your post on the SWAN UK twitter feed...", it started. My heart sank. I'd been trolled. I'd opened up our lives to the general public and some sicko was going to abuse me because of it. Reluctantly, I carried on reading.
"I might be able to help with Hugh's diagnosis" it continued. Yeah right. I've had the odd comment before where people have known exactly what's causing his problems. I don't mean people with training, geneticists, paediatricians and the like, I mean kind old ladies in Tesco whose next door neighbour's son had the same thing. Well meaning, but wildly off the mark.
Rolling my eyes, I read on. And as I did so, my heart started beating a little bit faster, the first tinges of excitement building. This lady knew what she was talking about, she talked about genetics and studies and a specific research project based in America. Initially I was reluctant to let go of the thought that it might just be a hoax by a well educated troll before jumping to the conclusion that it was in fact a scam to extort vast sums of money from desperate parents. (Paranoid? Who me?)
However, turns out it wasn't a scam! It turns out there IS a research project in America recruiting participants with apparently balanced chromosome rearrangements that have learning difficulties like Hugh. And they don't want money for it. It's all above board, genuine and very exciting.
Fast forward through lots of emails, discussions between the research team and our geneticist and here we find ourselves, bringing this to fill in with our geneticist today.
|sign here, and here, and here, and here, and here, and here, and ...|
And so it starts, questions asked, forms filled in, bloods to be taken and all shipped off to America.
And now we wait.
The study will look at the specific break points on Hugh's DNA in such detail that they should be able to pinpoint any missing genetic material or gene disruptions in these areas. In short, this could provide us with a diagnosis, a reason for all of Hugh's difficulties.
So it feels like an adventure of sorts. An exciting adventure where we get to hunt for the big bad bear; the bear that caused Hugh's epilepsy, the bear that's tried to take him from us so many times.
Potentially it could lead us to other people with the same genetic faults. It could give us information about Hugh's future. It could give us ideas for treatment and ways we might be able to help him. I know of others that have accessed better support, been offered services that had previously been unavailable without a diagnosis. To be able to put a name to this 'thing', even if it's just a list of letters and numbers denoting a specific gene, would be a relief. Even after all this time, I still really just want to know 'why'.
But I'm also afraid of opening Pandora's box. What if it's bad news? I mean, worse than we already know.
The thing with bear hunts is sometimes you find the bear.
And perhaps it's safer to let sleeping bears lie.
You can find out more about the Developmental Genome Anatomy Project on facebook here or on twitter here.
*Reference: 1989, Michael Rosen, We're Going On A Bear Hunt