Staying strong for Sophie: Parents of 1-year-old with incurable condition determined to ensure her life is 'happy and fun'

We spoke to Keith and Lizzie Mason following Sophie's Batten Disease diagnosis

Sophie, 1, has been diagnosed with CLN 1 Batten Disease
Author: Liam RossPublished 27th Jan 2025
Last updated 27th Jan 2025

An Inverness couple say they want to ensure their daughter's life is filled with "happiness and fun," after she was diagnosed with a rare fatal condition.

Last year, Keith and Lizzie Mason were told their one-year-old Sophie has CLN 1 Batten Disease, a genetic degenerative disorder which affects the nervous system.

It causes progressive vision loss, seizures, childhood dementia and worst case scenario, Sophie has a life expectancy of two-to-three years.

Despite this heartbreaking situation, Keith and Lizzie are determined to "stay strong" to ensure Sophie gets as much out of life as possible.

They're also keen to raise awareness about Sophie, with the hope of receiving more support on making her life as comfortable as it can be.

"Our world collapsed"

In November, Keith and Lizzie were told Sophie had Batten Disease, also known a infantile neuronal ceroid lipofuscinosis (NCL).

Those with the condition become completely dependent on families and carers.

According to the Batten Disease Family Association (BDFA), there are approximately 100 – 150 children, young people and adults currently living with an NCL diagnosis in the UK.

(L-R) Lizzie, Sophie and Keith

Sadly, there is no cure.

Leading up to her first birthday, Sophie was a healthy baby and rarely unwell.

It is difficult to identify Batten Disease for the first 12 months of a child's life, but sadly after that signs of regression do appear.

Sophie can no longer sit up on her own and cannot support her own weight.

She has started to lose her vision, her motor skills have reduced, she will lose the ability to swallow and will need a feeding tube.

Keith, who was recently a First Team Coach with Inverness Clachnacuddin, explained how they're desperate to make the most of life with Sophie.

He said: "You never expect anything like this to happen to your own child.

"Unfortunately, you read about it in newspapers and you see it on the news, but you never expect it to land at your doorstep.

Lizzie with Sophie

"We felt like our world had collapsed, not knowing what to do or what to say.

"We were inconsolable, and that's probably an understatement.

"We're trying to stay strong for each other and most importantly stay strong for Sophie.

"We just want to give her the best life that we can.

"It's going to be difficult, we don't truly understand how difficult it is going to be until we reach that stage.

"Right now, we're trying to deal with the here and now and be positive.

"In a few years time, all we're going to have is memories of her.

"That's heartbreaking and difficult to comprehend."

Keith also told us why they want to raise awareness.

He added: "So that everyone knows Sophie and how great she is.

"We're probably a bit biased towards our own daughter, we just wish we can fill her life with happiness and fun."

Parents feel "indebted" for kindness shown

Lizzie outlined why she feels it's crucial they do everything they can to help Sophie "live her life."

She said: "I don't want her to leave this world and not be remembered.

"I feel that's really important to me, as a mum and a parent.

"She hasn't had her chance so I feel like this in part is us giving her a chance.

"We have to make a really good shot of helping her with her story, live her life and be amazing."

After revealing Sophie's condition on Facebook to avoid difficult questions, many have come forward wanting to fundraise to ensure Sophie can enjoy as many activities as possible.

Fundraising activities people are participating in include, a Loch Ness swim, a legends football match between Inverness City and Clach, a raffle, auction and race night plus many more.

Clach players have also donated bonuses received for winning matches towards Sophie's cause.

Keith and Lizzie explained how they have recently received her passport and intend to go Disneyland Paris in the near future.

They're also using any donations to purchase any equipment Sophie may need.

Lizzie added: "There are no words to explain to how amazing it feels that people want to put themselves out there for you.

"Some people you don't even know that well too.

"We're very lucky we have such great friends and family.

"They've just been absolutely amazing.

"You can say thank you, but it doesn't have that weighting that you want it to have.

"I guess we feel indebted."

For more information about Sophie, head to the Sophie's Story Facebook page.

To donate towards Sophie's fundraiser click here.

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Callum Gallacher

MFR