“When I came off the phone I was howling. How can my daughter suddenly go from being perfectly healthy, to going blind, to being told she’s going to die?”
Caitlin Passey, aged eight, was diagnosed with CLN3 Batten disease during the pandemic. Here, her mother Naomi shares their diagnosis story, and talks about the long grieving process which comes with Batten disease. The family live in Cambridgeshire.
Our life before Batten disease was just like everyone else’s. We have four children, Oliver, nine, Caitlin, eight, Joseph, five, and Sophie, three. My husband Nick and I both worked, so life was pretty hectic and the balance between work and home life was often a juggle. We felt we made the most of what we could, running between afterschool clubs and activities whilst trying to maintain a social life and keep the house tidy. Caitlin was doing amazingly at school, she was super sporty and was a good all-rounder.
Early signs
Then lockdown happened and we were thrown into home schooling. With four children it was hard work. Oliver was set school tasks and he’d just do them, whereas Caitlin started to play up and needed constant help. I thought she was doing it on purpose and I got so frustrated. Looking back, I feel awful. Her teachers said she wasn’t like that at school, but when she eventually went back into the classroom they realised that she was having trouble seeing the board.
All about the eyes
We took Caitlin to the optician, and when she said she couldn’t see any of the letters at all, I genuinely thought she was making it up. When the retinal screening didn’t look right he referred us to a specialist. In the meantime Caitlin was given glasses but they hardly helped because her vision was so bad. That was the first time the magnitude of the situation dawned on me.
The ophthalmology appointment was really delayed and when we finally saw them they confirmed her lack of sight. At another appointment at Great Ormond Street Hospital we were told Caitlin had Rod-cone dystrophy and it was progressive, she would go blind. That felt like the end of the world. It didn’t make any sense to us.
But at least we had a diagnosis, and we had help and support from the charity Cam Sight and an amazing VI teacher (teacher for children with visual impairments) who came to the school. They held us together when our world was falling apart.
Genetics results
To find out the underlying cause, we were sent for genetic tests at the local hospital. The long wait for the tests was agony. When we finally met the genetics team, but the blood bottle shortage meant we couldn’t have the tests. I took matters into my own hands and got the tests done privately.
Then, again we waited.
I was home alone when the email came. It said “This is more complicated than I think you were expecting. Diagnosis- Neuronal lipofuscinosis (juvenile onset) CLN3 mutation”. I had no idea what it meant so I Googled it. I thought, “This can’t be right? They can’t be telling me my daughter’s going to die, over an email?”
I emailed back and when I finally got to speak to the geneticist, he just kept saying he was really sorry. He said it looks like Batten disease which would mean it’s terminal, but he couldn’t say if she would die. He said I needed an urgent referral to a neurologist.
When I came off the phone I was howling. How can my daughter suddenly go from being perfectly healthy, to going blind, to being told she’s going to die? And no one could tell me if it was true? I told Nick to come home from work and when he walked in I remember saying, “She’s going to die”.
No Answers
There was still so much uncertainty and we continued to get no answers.
Our GP referred us on and so did the geneticist but we just had to sit and wait as no-one would take responsibility for the diagnosis. I started Googling again, contacted everyone I could find with a link to Batten disease, I stumbled upon Sian from the BDFA. I emailed her telling what had happened and she immediately rang me, shocked that we were given news like this and left with no concrete answers. She put me in touch with a specialist Batten nurse who managed to talk us through the referral process to allow the doctors to view Caitlin’s file. Finally we had a confirmation that it was Batten disease.
It felt like a lifetime before we actually saw a specialist, we went armed with lists of questions, I had spent nights awake researching possible gene therapies, contacting pharmaceutical companies in the US but after all the waiting, the conversation was nothing like I’d imagined it would be. It was really defeatist, and my questions were pointless. The answers were very scientific and matter of fact. They told us what would happen but couldn’t give definite timeframes. I just wanted to know how much life we had to fit in. They couldn’t tell us anything more than we knew from internet searches.
That’s when it finally really hit me. This isn’t something we can fight, and we are going to lose our little girl in the most horrific way.
Making memories
On top of that, a woman called me back from one of the pharmaceutical companies I’d contacted , and said their trial has been paused. My one last little hope was extinguished and we had just been handed the death sentence all over again. She said, “It’s time now to make memories.”
With that my husband and I started to panic. All that we thought had been important no longer felt important. I had spent their younger years going back to college & university to train to become a physiologist, but now I would be a carer. We needed to make the house a safe haven for Caitlin, and we needed to find out her bucket list. We needed a timeline, so we contacted other families trying to piece together how much time we had before her sight would be gone and the seizures would start. We needed to act now.
So now, we have the bucket list and we are living in the moment. I didn’t know what that really meant before, but now I get it. We have to carry on day to day for Caitlin and for the other children. Sometimes you have to pack your feelings into a box and only let them out for an all-consuming moment when you’re alone. Right now is all about creating memories, moments the family will have to hold on to when Caitlin is gone.
Amazing support
Our builder started a GoFundMe account for us, and we started to fundraise to make memories. Amazingly there was an outpouring of support and help from everyone in our village – the whole community got behind us, and actually it really helped us. It’s amazing how much people care. When I feel like I can’t get out of bed, they are there for us, helping with the children and offering a brew and a chat. It was overwhelming how our whole world was shattered and falling apart and this community was holding us up. There’s a whole support network that we couldn’t have imagined, like Jan, the VI teacher, and Caitlin’s SENCO Katherine who have helped so much.
If you share your vulnerability you will find that people are there for you, and that discovery is a real high of this whole situation for me.
The longest grieving process
Batten disease has a huge impact on the kids. We’ve chosen to be as open as we can with them. They know something really serious is happening. Oliver knew Caitlin was going blind, but he worked out there was more to it. We have explained as much as we can without scaring him, and told him there will be changes, and that we need to be there for Caitlin. We have told him it’s ok to ask questions, and its Ok to not be Ok. I’ve explained it to Caitlin too.
Oliver and Caitlin are so close in age, but the divide is becoming really big. Caitlin will ask “Why can’t I do that?” How do you tell your little girl that she’s regressing, that he’s growing up, and that’s not going to happen for her? I hate Battens for that.
It just doesn’t make sense to me how someone can just develop something like this after all of these years of not just normality but excelling, she was just so talented.
But what really horrifies us about CLN3 is watching our little girl cry over what she is losing. She is so aware and it is utterly heart breaking knowing the horror that is coming and not being able to protect her from it. It is all you want to do as a parent, yet at each new stage of the disease you’re grieving for more of your little person that you’re losing.