Community rallies to help Rotherham girl with rare, incurable Batten disease

Thousands of pounds have been raised to future-proof the home of a 12-year-old girl with a rare genetic disease that has already caused her to go blind.

Stevie Taylor, from Rotherham, began losing her vision four years ago, before tests revealed she was among fewer than 200 people in the UK with a form of Batten disease.

The degenerative condition can lead to seizures, blindness, loss of hearing, mobility problems and memory loss that worsen over time.

Her family has moved into temporary accommodation as they try to convert a bungalow to better suit her needs.

Her dad, Paul, said: "It's overwhelming. There are so many people out there who want to help but if they don’t know about it they can’t. By us speaking up and telling our story, it’s amazing."

Stevie Taylor and family. Credit: Family handout

What is Batten disease?

Batten disease is the common name for a broad class of rare, incurable, inherited disorders of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs.

A defect in a specific gene triggers a series of problems that interfere with a cell’s ability to recycle certain molecules.

Most forms of Batten disease begin during childhood. Children with the disease often appear healthy and develop normally before they begin to show symptoms.

Common symptoms include sight loss, seizures, delay and eventual loss of skills previously acquired, dementia, and abnormal movements.

As the disease progresses, children may develop one or more symptoms including personality and behavior changes, clumsiness, learning difficulties, poor concentration, confusion, anxiety, difficulty sleeping, involuntary movements, and slow movement.

Over time, affected children may suffer from worsening seizures and progressive loss of language, speech, intellectual abilities (dementia), and motor skills.

Eventually, children with Batten disease can become blind, dependent on a wheelchair, unable to communicate and lose all cognitive functions.

There is no cure for these disorders.

Stevie Taylor with her dad, Paul. Credit: ITV News

Stevie was just eight when she began to lose her eyesight, prompting genetic tests which eventually led to her diagnosis.

There is currently only one approved treatment for just one of 13 types of Batten disease. The treatment is not a cure and is not used to treat Stevie's condition.

"Stevie gets on with it, she’s smiling when she gets up, singing, she loves to sing, she’s bubbly," Paul said. "Although we shut down because our world had just crashed, Stevie just got on with it.

"You've got to be positive and try to take her to the places she wants to go and do all the things she wants to do."

Stevie is being supported by the Batten Disease Family Association (BDFA), which raises awareness of the condition and links families with experience of the disease.

To raise money for BDFA and the home improvements, which aim to make their new house more open plan and wheelchair accessible, a friend running a local business has set up the £25,000 #WalkingforStevie fundraising campaign.

The initiative will see Paul and around 20 others climb the Yorkshire Three Peaks on 16 July.

Stevie said: "It has been a bit hard because when I was watching TV, I couldn't see it and had to move closer but I've got used to it a bit. It means a lot, people helping me and stuff."

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