The life I never expected

Way back... Way back when... Way back when I didn't know how disabled Hugh was or would be... Way back when I didn't realise how destructive his seizures were... Way back when I thought the doctors could fix things... I thought,  I thought that once we'd sorted the epilepsy everything would be better, I thought that once we'd sorted the epilepsy I'd have to struggle to come to terms with having a child that needed to go to special school.
I didn't expect to have to come to terms with having a child that would be unlikely to live past his teenage years.
I didn't expect to come to terms with having a son that hardly knew I existed.
I didn't expect that, even once the terrible times had past, the devastating consequences would remain.
Hugh's epilepsy has robbed him of a future. Hugh's epilepsy has robbed us of the child he might have been.
His really bad seizures are less often than they used to be, And for that I am grateful, But they cast a long shadow, And I ne…

The Next Big Adventure

We're going on a bear hunt,
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

Comments

  1. Exciting and terrifying. I have to say that blogging and social media have brought me more opportunities than anything else. It's a connected world these days.

    And now the very hardest part... the waiting xxx

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    1. Exactly Renata! Waiting will be hard. But we've already waited three years on DDD and the turnaround time on this on should be arpund 6-12 months. I'm going to attempt to put ot tp the back of my mind, for now.
      It certainly is amazing the opportunities that come from and the connections that can be made using social media.

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  2. I hope it does work out for you - I have a blogging friend in the US who recently got some answers about her daughter, probably through this project, and here the bloods have finally been sent off for the DDD project, so we're following in your footsteps....

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    1. Wow, you're only just joining the DDD now? I guess with Smiley being older I'd assumed you'd have been on it from the start. Please keep us updated. Great news that your friend got results from it. xxx

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  3. We do hope that this journey gives you information that helps you all. Knowing IS better than not knowing. Hoping Hugh is well -he has such a wonderful smile! Blessings to you all from Maggie (Emma Tolley's mam)

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    1. Ah thanks Maggie, he is really well at the moment. Full of his usual cheeky smiles. Yes I swing between thinking knowing is better than not knowing - at least I'd know what I was up against, to be being terrified about what I might find out and the implications it could have for the future.
      Thanks so much for stopping by and commenting - really appreciate it xxx

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