This is Elliott, or "Elly" as we often call him. He is our wonderful 4-year-old son who loves trains, running, jumping, numbers, books, songs, hugs, bubbles and even more trains. 

On 21st October 2020, we were told the devastating news that Elliott has CLN2 disease, otherwise known as late infantile “Batten disease”. This disease is incredibly rare, around 5-6 children are diagnosed in the UK each year. For those unaware, Battens is comparable to dementia but predominately affects children. Most children with CLN2 disease do not live past 10 years and rarely see their teens, losing all ability to communicate, see, walk and generally look after themselves. There is no cure.

Whilst Batten disease has changed the course of our lives, it also provides an answer as to why Elliott wasn’t developing like other children his age. It explained his inability to learn to talk; leaving him with a handful of words that he relies on. It explained his uncontrolled seizures which began just under a year ago. His mobility is deteriorating and he falls often, every day. Although Elliott is four, developmentally he is much younger.

Fortunately, we are able get Elliott some new treatment - unique to CLN2 disease - which will significantly extend his life by slowing or hopefully even stopping his brain from degenerating further. It requires us to travel to Great Ormand Street Hospital every fortnight so that Elliott can be given an infusion of Brineura, (an enzyme or protein he cannot produce) directly into his brain. The treatment is not a cure, and will not enable him to “catch up” or live normally; he will continue to have complex needs. However, it will enable us to give him a quality of life that he deserves.

Whilst this treatment is, literally, a life saver, it sadly does not prevent sight loss, which is an inevitable part of CLN2 disease. Elliott will go blind, perhaps in only a few years’ time. We will not accept this, on top of everything he has to go through. We have enormous hope in current worldwide trials which are pioneering the use of Brineura in the eyes to prevent children’s eyesight degenerating. Thankfully, Great Ormond Street Hospital wish to replicate this treatment. 

However, as always, funding is required. We are asking people to share, donate, fundraise towards the “Brineura in the eyes” treatment so that Elliott and other children affected by CLN2 disease can maintain their eyesight. 

All funds raised will go directly to the “Save our children's sight - children with CLN2 Batten disease on Brineura” campaign run by the Batten Disease Family Association.


More information from the Batten Disease Family Association 

We are very pleased to announce that Brineura© in the eyes was approved for compassionate use at a recent meeting of the ethics committee at Great Ormond Street. This is a significant step forward towards the treatment being made available for children with CLN2 who are on enzyme replacement therapy.

At the moment the costs of this trial are a forecast and are not yet known precisely. The duration of the trial will be 18 months. There will be hospital costs associated with the intravitreal injections that will include operating theatre time and the costs of general anaesthesia as well as programme coordination. We have set our initial target at £80,000 and we are already over a quarter of the way to meeting this. 

We are keen to push ahead with our fund raising to ensure that adequate funds are raised to cover the costs but, in the event that we exceed the amount required for the trial, any excess funds will be used by the BDFA for the benefit of children and their families who are affected by Batten disease. 

http://www.bdfa-uk.org.uk/