Doctors are unsure that this is Nicole’s full diagnosis and she continues to undergo genetic testing in the DDD Study. Nicole had a lot to live up to, her older sister Natasha met all of her milestones early and people often remarked on how advanced she was. Although Nicole wasn’t quite so advanced, she too met all her milestones even if she did walk a little late. Our Health Visitor was always pleased with her progress. Nicole was doing everything I expected her to be doing, toddling around, chatting away and generally getting into mischief. Life was good and I had very little to worry about. Then came that day, a day that will be imprinted in my memory forever.
At 18 months old, 17 days after her MMR jab Nicole had her first seizure. I think of Nicole’s life like a jigsaw – one that we had lovingly built, watching this amazing picture appear of a beautiful little girl, with an infectious smile and endearing manner. Then along came epilepsy and slowly it destroyed that jigsaw starting in the middle and methodically picking out the middle pieces and throwing them away without any regard for what it was leaving behind. We watched helplessly as our little girl lost all those skills she’d worked so hard to learn.
18 months later, all that was left of the jigsaw was the outside pieces.
Nicole was a shell of the little girl we once knew. She’d lost all of her speech and all of her self-help skills, she could no longer feed herself or play with toys as you’d expect her to. Over the years we’d tried desperately to replace the pieces, and for a few days, weeks or even months, we’d see Nicole regain some of what she’d lost.
But then a cluster of seizures would hit and like a tornado, sweep through the jigsaw blowing away the pieces we’d searched so hard to find. So since the age of 3 Nicole has made little to no progress in terms of her development. We have tried all licensed and unlicensed drugs available, the Ketogenic Diet, VNS, alternative therapies, prayer and faith healing. We’ve been to Great Ormond Street on numerous occasions but surgeries have been ruled out. In the early days, we used to count the seizures. Once we got past 70 we thought what’s the point?
Today, we very rarely count them.
Nicole has clusters of seizures of every type – from startle seizures caused by noises you and I wouldn’t even notice to tonic-clonic seizures that often result in a hospital visit. Nicole’s seizures, 13 years later, still aren’t controlled. But, our lives are controlled by the seizures. We can’t leave Nicole alone, even for a second, and as she gets bigger it feels like our world is getting smaller. A drop seizure in 3 year old is very different to a drop seizure in a 16 year old – there is less space to fall in, there are more obstacles in the way, she’s harder to catch – the risks are so much greater.
We always have to think of what is best for Nicole, she loves a party but a late night or a lot of noise will definitely lead to increased seizure activity. Do we take her ice-skating knowing that she loves it but risk her body temperature dropping or picking up a bug which again will result in a cluster of seizures. Over the years we have learnt so much.
We’ve learnt that clusters of seizures are part of Nicole’s life – messing with medications isn’t going to help so now we know when to say no to the doctors.
I recall a time when Nicole was in hospital and a nurse went to administer some calpol, Nicole rolled her eyes. The nurse jokingly told her off, ‘don’t be rude young lady’, I had to explain that she was having a seizure. There are still days when I don’t trust myself, Nicole’s seizures can be so discreet – is this the usual run of the mill day or is this masking something more sinister? I’m on constant high-alert. Nicole takes up a lot of attention and my energy and I often forget the impact that her seizures have on the rest of the family. It’s not only the distress and helplessness that her siblings feel watching her have seizures but it’s also all the other things they miss out on like cancelled activities and how it affects their day to day lives like late school runs, making their own lunches and so on – they’ve had to grow up very quickly.
Grandparents also miss out, they don’t have the same opportunity to do all the fun things they’d looked forward to like special days out and buying treats. We spent many years feeling very isolated as a family, the information and social networks that are available today simply weren’t there when Nicole was young.
I’ve found the support of other families in similar situations very helpful, it’s also good to hear about the medications and treatments that other children are trying. I remain hopeful that a new treatment for Nicole and the many other children like her is just around the corner. In the meantime we continue to battle with epilepsy – the jigsaw destroyer.
For more information about Lennox Gastaut Syndrome and the DDD Study. https://www.epilepsy.org.uk/info/syndromes/lennox-gastaut-syndrome http://www.ddduk.org/