Toby, Corey and Izzy's story | Action Medical Research

Toby, Corey and Izzy's story

Juvenile Batten disease

Discovering that three of their children have the devastating, rare condition juvenile Batten disease has, says mum Dee, left the family feeling numb. Twins Toby and Corey, 12, and Izzy, who’s seven, are all affected. Their sister Amber, 11, does not have the disease, but may be a carrier.

Dee says: “When we got the diagnosis, my first thought was, no – my babies are going to die.”

Sadly, children affected by juvenile Batten disease (also known as CLN3 disease) experience a wide range of symptoms including sight loss, tremors, epilepsy, problems with balance and walking, behavioural and psychological issues and, as the disease progresses, difficulties with chewing and swallowing. Tragically, the disease is fatal.

There are some treatments which can help with some of the symptoms of juvenile Batten disease, such as seizures. But there is no treatment that can slow the progression of the disease, which is caused by problems with a specific gene and is an inherited neurodegenerative condition.

Toby and Corey have severe sight impairment and suffer from seizures, aching legs and wrists, behavioural problems and stammering. Little Izzy still has good eyesight, but is affected by stammering, short term memory loss, night terrors and challenging behaviour.

Dee and partner Jody are gently introducing Toby and Corey to their local children’s hospice. “It’s important that the boys get familiar with the sounds, smells and textures there, in case they do lose their sight fully,” Dee explains.

Caring for three sick children means neither parent can work and every day is a challenge. But Dee says: “We get our strength from the children. No matter how hard it is, they have so many battles to fight, we’re going to do everything we can for them.”

Dr Emyr Lloyd Evans is leading a vital, Action funded study into juvenile Batten disease at Cardiff University. You can read a summary of the aims of this research here

Find out more...

  • Toby, Corey and Izzy are affected by CLN3, commonly known as juvenile Batten disease. 
  • Commonly referred to as Batten disease, Neuronal Ceroid Lipofuscinoses (NCLs) denotes a group of several different genetic life-limiting neurodegenerative diseases that share similar features. If you'd like more information about Batten disease and family support, please visit the Batten Disease Family Association at www.bdfa-uk.org.uk.
  • If you would like to support our July 2016 Rare Disease Appeal, which features Toby, Corey and little Izzy, you can find out more here.

 

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