What is Batten

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Batten disease was first identified in 1903 by a paediatrician named Spielmeyer-Vogt-Sjogren-Batten. Children who are born with Batten disease will appear healthy but later develop epilepsy; lose their eye sight; speech ability and cognitive and motor abilities. The disease is fatal and those diagnosed with Batten will pass away between the ages of 5 and 30, however, most will not reach their teens.

  • Commonly known as Batten disease the Neuronal Ceroid Lipofuscinoses (NCLs) are a group of different genetic life-limiting neurodegenerative diseases that share similar features.
  • A rare disease that affects 150-200 children and young adults in the UK
  • CLN5 Late-Infantile variant, is one of the rarest forms of the disease with only 4-5 cases in the UK. This is the type Freddie and Louie suffer from.
  • Most forms of NCL are inherited as “autosomal disorders”. This means that it can be passed down between families. Any child born to parents who both carry the gene has a 1 in 4 chance of developing the disease.
  • There are several different types of Batten disease, which are classified according to the gene identified as the cause e.g. CLN1–CLN14 & the age of the onset of the disease (late infantile).

Only 1-2 children are diagnosed with late infantile variant Batten disease each year in the UK. We estimate that there are between 10 and 20 affected children in the UK. Children have been diagnosed in many countries and from a variety of ethnic backgrounds.

Freddie and Louie are the only known identical twins in the world that suffer from CLN5 Late Infantile variant.

Ref: Batten Disease Family Association (BDFA) Registered Charity No 1084908 http://www.bdfa-uk.org.uk

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