Touching Lives - September 2015
Hope for children with a devastating disease
Children with a rare, genetic condition called juvenile Batten disease may one day benefit from research by Dr Emyr Lloyd-Evans of Cardiff University.
Those affected by this cruel condition seem healthy at birth and develop normally before things take a dramatic turn for the worse, usually between the ages of four and seven.
As the disease progresses children lose their vision and develop epilepsy. Their mental and physical abilities regress, leaving them severely disabled and totally dependent on others.
There is currently no cure or way of slowing the progress of this devastating disease, which sadly remains fatal.
Helped by Action funding of almost £200,000, Dr Lloyd-Evans is investigating whether a medicine that’s already widely used to control blood pressure in adults could benefit children with juvenile Batten disease. If successful this could offer the first-ever medicine for children suffering from the condition.
His work aims to vastly improve our understanding of the disease, which is caused by faults in a particular gene controlling production of a protein called CLN3.
The role this protein plays in the body has long been a mystery. This research hopes to change that and could provide the major breakthrough families around the world living with this condition so badly need.