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Gail and Matthew Rich (UK) provide a personal insight into life with CLN2 disease and the impact it can have on children and their families.

Parent holding child's hand

The Natural Course of CLN2 Disease is Rapid

Children with CLN2 disease commonly experience a complete loss of cognitive abilities, motor function and vision within the first decade of life.1,2

Child under magnifying glass

Earlier Diagnosis is Critical & Testing is Straightforward

Given the rapid rate of progression, early diagnosis is essential to ensure that families can benefit from CLN2-specific management strategies and maximise quality time.3,4

Doctor treating patient with stethoscope

Optimise Care With CLN2 Disease Management Strategies

Experts have identified CLN2 disease-specific management strategies that can greatly impact patient care and quality of life.4

1. Schulz A et al. NCL diseases – clinical perspectives. Biochimica et Biophysica Acta. 2013;1832:1801-1806. 2. Mole SE and Williams RE. Neuronal ceroid-lipofuscinoses. 2001 Oct 10 [Updated 2013 Aug 1]. In: Pagon RA, Adam MP, Ardinger HH et al. eds. GeneReviews® [internet]. Seattle, WA: University of Washington; 1993-2016. 3. Nickel M et al. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. Lancet Child Adolesc Health 2018;2(8):582–590. 4. Williams RE et al. Management Strategies for CLN2 Disease. Pediatr Neurol 2017;69:102–112.