I am looking to raise funds to help the BDFA towards a potential treatment which could save the eyesight of children with CLN2 Batten Disease. Addy, the daughter of my friend and colleague Dave, has recently been diagnosed with Batten Disease. 

Among the many cruel symptoms of Batten disease and one, which strikes fear into us all, is the loss of eyesight. The thought that our children will not be able to see our faces again is terrifying.

It is believed that giving Brineura ©(the drug that is given during the Enzyme Replacement Therapy ERT) into the brain will not help to save the eye sight because it is not known if it has the ability to cross through into the retina. Sadly there are some children who, despite receiving ERT, have lost their sight.

There are scientific advances being made every day and one of those incredible advances is the prospect of injecting the Brineura © drug directly into the eye to save the sight.

Early studies have been carried out which have shown this method is effective and so the next step is to establish a compassionate use programme which would give our children the opportunity to join, if they meet the eligibility criteria, and may benefit.

Clinical trials for this are already in the early phases in Hamburg and Ohio and the GOSH team (who currently ran the CLN2 ERT programme which is being transitioned to several UK centres) is in the process of exploring if it would be a possibility to conduct a similar programme in Great Ormond Street Hospital, London. This would ensure children in England would have the same opportunity to be part of this pioneering step to try and save their eyesight.

Please be part of something special and help us make a difference!