“An update – 4 months on from the GAMT deficiency bombshell” – Kelly

If someone told me at the beginning of last November, just how much our lives were going to change in a very short space of time, I would have laughed in their faces. Or cried. I’m not quite sure which – but I certainly wouldn’t have believed them.

What’s funny is now that I’ve just written that statement, I’ve realised that in a roundabout way, someone did tell us just that. When our geneticist called with the Earth shattering news that they’d discovered the cause of the children’s disabilities – they had GAMT deficiency and it was treatable, he did say that it would change our lives. He just didn’t go into details or timeframes because in truth he didn’t really know what to expect – just that things were going to get better. And they have already.

If we look back to what life was like for our children, for us as a family, even as recently as 4 months ago – it was a very different story. Isaac had been diagnosed with Autism & his behaviour was unmanageable. We couldn’t spend time together as a family & would have to separate for days out or segregate at home. Meltdowns happened wherever we went & could go on all day at home. He never left the house without his ear defenders, blanket & chewy tube as he suffered with sensory overload. He was limited to a few words for communication, which no doubt added to his frustration. He was also having more frequent drop seizures & had fallen onto his face a few times leaving him battered & bruised.

Holly continued to take ever increasing doses of anticonvulsants with poor effect, she had anywhere from 25-100+ absence seizures a day, which affected every part of her life & learning. Relationships were strained & we were ever more reliant on outside help to get by. I could go into more detail, but I think you get the picture!

Fast forward to today. Oh, how things have changed!

Isaac is like a new child. His behaviour has leveled out, he is HAPPY. We haven’t needed his ear defenders or chewy for weeks. His speech has rocketed – he can now speak in 3 to 4 word sentences & asks questions. Repeatedly(!). Physically he his more capable – he can walk up & down stairs now & drink from a cup without spilling. He is still obviously very delayed & I expect he always will be, but without the diagnosis & treatment there is no way he would have achieved these developments in such a short space of time.

For Holly, as she is older, the differences have been much more subtle. There is a clarity about her that was lacking before, the only way I can describe it is she has come into focus. Her memory & ability to sequence have improved & her imagination is really coming into its own. Also, a biggie – she no longer dribbles!

But the most amazing change to report? After just a few weeks of starting Creatine & L-Ornithine supplements, the seizures stopped for both children. Just like that! Holly had been having relentless seizures from 14 months old (she’s 9 now), and Isaac for nearly a year – Chris & I haven’t witnessed an obvious seizure this year at all. One day we noticed they weren’t so frequent, a couple of weeks or so later we realised we couldn’t remember the last one we’d seen for either child. That was mid January & here we are nearing the end of March & still no seizures.

I can’t describe to you how I feel about all of this eloquently at all. Chris & I used to talk about what we wished for the children to make their lives better & ours more bearable. All we wanted was for Holly’s seizures to stop & for Isaac’s behaviour to improve (I say ‘all we wanted’ but actually it seemed we’d need a miracle). And thanks to the DDD study & some wonderful scientists, it’s happened. Very quickly. It’s all so surreal.

Of course I am over the moon that things are so much better, but I can’t help feeling as if the rug might be pulled from under our feet at any moment. Perhaps the seizures will return? Maybe Isaac will regress? There are so many unknowns. This is the problem with such a rare disease – you just don’t know how things will pan out as there isn’t enough research to draw on. But, I suppose the only thing we can do is live in the here & now. And for now I’m enjoying every minute of our new found freedom (well most of it – let’s be realistic here. They’re still kids who can have their moments for sure – Holly has a new found feistiness but you can’t have it all hey). I’m enjoying the laughter, the baby steps that each of them makes each day & I’m enjoying being part of our family again. Whatever happens, I’m confident it’ll be better than what we were experiencing before.

So here’s to the next 4 months & whatever the future may hold with our unique kiddies!