“The thing I underestimated the most was that I would have to learn to grieve for a child that was still alive”

Natalie Evans, mother to Sam, aged 9, who has CLN3, and his two sisters Scarlett and Alice, tells the story of their year since diagnosis

“I’m so incredibly sorry, but the results have come back and they aren’t good. They have found that Sam has changes in a gene called CLN3, which is something called juvenile Batten disease” I stared at him. I’d never even heard of it. His words had no meaning until…

“It’s neurodegenerative and there is no cure. I am so, so sorry”

It’s been a little over a year since I wrote this post on my blog. My name is Natalie and I’m mum to Sam who is now nine and his two sisters, Scarlett, 7 and Alice 5. Our Batten disease journey is still relatively new and some days are easier than others.

Difficult to explain

It’s such a difficult diagnosis to try to explain to people, especially when, thankfully, they aren’t in your shoes. Firstly about the disease itself, about the effects it will have on us as a family having to watch as Sam deteriorates, the effect it will have on Sam’s siblings as they are exposed to experiences they shouldn’t have to be but mostly the impact it will have on Sam as the disease progresses and we start to lose parts of him.

The thing I think I underestimated the most when we first set out on this journey was that I would have to learn to grieve for a child that was still alive. My child, my baby. The first baby that made me a mum and I will have to accept one day, that I will to say goodbye to him. And I don’t think there is anything that could ever prepare you for that as a parent.

But the disease will never define the person Sam was and is, and this is such an important thing to remember.