“On a day to day basis we don’t think or talk about Batten disease unless we need to. We don’t let it rule our lives.”

Chantelle Cammack, mother of Sheyne, 14, and Amber, 11, who both have CLN2 Batten disease,  talks about how expecting the worst and hoping for the best has helped lessen her disappointment when treatments didn’t work. 

With Sheyne and Amber’s Batten disease symptoms being so different from other children’s, it took eight years to get a diagnosis, so our Batten journey is stretched out and prolonged. Our onset story is unique in a disease that is already ultra-rare, and it’s been a long battle. 

Sheyne was five when he started having behavioural issues. His personality changed completely, he started being very aggressive, and eventually was diagnosed with ADHD and put on medication. A month later he started to have seizures. He had one every six to eight weeks and strangely his behaviour would settle down before a seizure, like the calm before the storm, and then afterwards his behaviour would get worse again. We started to notice that Sheyne would always regress in his abilities after a seizure. 

100,000 Genomes Project

This continued for about two years, and then he developed ataxia, and his speech started deteriorating. Although we could see it all happening it was a slow progression over the course of quite a few years. We had educational psychologists involved, speech and language therapists at school, and we ended up having a big multidisciplinary team for Sheyne. 

At that point Amber wasn’t showing any signs like Sheyne’s. She was diagnosed with dyslexia and ADHD but there was no regression like Sheyne. She was completely different. 

Sheyne had all sorts of tests, blood tests and scans, and it was his yearly MRI scan which finally showed that it was a ‘white matter’ disease, because they could see the small changes in his brain. Because they could see changes, but didn’t know what it was, Sheyne was entered into the 100,000 Genome Project where they test all the genes. Because it was all new, the results took three years to come back.

The results came back in February 2020. CLN2 Batten disease. 

Amber

By then, Amber was waiting for an assessment for autism. I had started to observe little changes in her. And although these were different to Sheyne, I had started wondering if she might have the same as him. When Sheyne got his result, Amber was tested straight away. And in April 2020 we got the positive CLN2 result for Amber too. 

Enzyme treatment for CLN2

Less than a month later by the end of April 2020, both children were having brain surgery. Because of Covid-19, I was on my own in the hospital with both children, having surgery one after the other on the same day. This surgery was the first step for the enzyme treatment for CLN2, and they started the Brineura© treatment just over a week later on 8 May. We carried on this treatment every two weeks. 

But it just wasn’t working how they said it would. After starting treatment the children started to deteriorate at a faster pace. Every time we went down to London, I was listing more and more things that had regressed. I found I was struggling to keep on top of the constant changes, as both children were deteriorating in different ways. 

Sheyne’s shaking got worse, his mobility deteriorated, he lost more speech and started drooling. It was quick. Amber had her first seizure whilst in London during an ECG, her speech deteriorated and she ended up in a wheelchair as her walking became more difficult. 

Stopping treatment

Our team in Sheffield were monitoring the children and agreed with me that the treatment wasn’t helping them. Instead it seemed to be speeding up their deterioration. In September, we made the decision to stop the treatment altogether. All the professionals in our team agreed it was the right thing to do. 

Since stopping, the pace of decline has slowed down again. Sheyne is now nil by mouth, and his vision is worsening. He now struggles to recognise people he doesn’t see often. 

Amber can only walk a few steps a day as she suffers from bad nerve pain but we’re trying to get her back on her feet when we can.

Life now

In February 2020 we were told to go and make memories – and then in April the whole world shut down. I find getting out and about is very difficult. Now we have two wheelchairs I always need to have someone else with me when we leave the house. On top of various lockdowns, it’s been very hard. 

I’ve known for years that Sheyne would one day be diagnosed with a disease like Batten Disease. I just knew it. So it wasn’t such a shock with Sheyne. It hit more with Amber, because I was only waiting for an autism assessment. But you don’t have a choice, you just have to come to terms with it. 

You have to focus on them. They make it easy, because they are always happy. Sheyne knows he’s going blind and he’s aware of everything that’s happening, and he says, “I’ll still remember what your beautiful face looks like, mum.”

Their littlest brother, Cruz, aged 4, is too young to know anything about it, but Mason, aged 8, knows everything that’s going on, and I make sure I explain it all. He’s a proud supporter of the BDFA, and has talked to his class about Battens. 

On a day to day basis we don’t think or talk about Batten disease unless we need to. We don’t let it rule our lives. It’s at the back of our heads until it needs to come forward. We take each day as it comes. I’ve always been one who expects the worst and hopes for the best, so no matter what, I’m not disappointed. I wouldn’t get through it if I didn’t think like that.