A simple eye test revealed that twins Toby and Corey had permanent scarring on the back of their eyes – which baffled specialists.
Their eyesight became progressively worse, and the boys started to need large print books. They also started to develop more challenging behaviour, and then the seizures started.
Eventually consultants confirmed that Toby and Corey have the fatal genetic condition juvenile Batten disease.
Tests on sisters Amber and Izzy proved bittersweet. Amber was negative but Izzy was also positive for juvenile Batten disease.
Action is funding vital research into juvenile Batten disease but much more research is needed. For every project Action funds there’s another one we have to turn away – simply because of a lack of funds.
What is juvenile Batten disease?
Juvenile Batten disease is a rare genetic condition caused by the gene called CLN3.
Children with juvenile Batten disease seem healthy at birth and develop normally at first, but things take a dramatic turn for the worse as they get older.
They experience devastating symptoms that worsen over time. From around the age of 10, children start having epileptic seizures and some have psychiatric issues, such as hearing voices. Their mobility, speech and feeding skills also fall away, leaving them severely disabled.
With no cure, and no way to stop the progress of this cruel disease, children eventually lose their lives.
Dr Evans is fighting for little lives…
Funded by Action, Dr Emyr Lloyd-Evans of Cardiff University hopes to develop a treatment for CLN3, juvenile Batten disease that affects Toby, Corey and Izzy. His research is focused on abnormalities in calcium control in the body.
Dr Lloyd-Evans also plans to investigate the potential effectiveness of drugs called calcium antagonists, in the hope that they could offer the basis of a treatment for juvenile Batten disease.
The results of Dr Lloyd-Evans’ three-year study could lead to clinical trials in the near future and potentially the development of a treatment for this truly devastating condition.
Much more research is needed. Please support Action today with a gift to help fund more research for children like Toby, Corey and Izzy.
Top picture courtesy of Adrian Sheratt
Corey is a thinker, methodical and precise. His family call him Captain Cautious!
Toby is a doer – he loves helping his dad in the garden and using tools.
Seven year old Izzy is a real character who loves dressing up in Disney princess dresses.