Isaac's Journey Fighting Battens

This is Isaac, my beautiful 5 year old nephew.

After years of tests and hospital visit two weeks ago Isaac was diagnosed with Battens Disease, a very rare neurodegenerative disease, which is terminal. Over time children loose the ability to walk, talk and eat. They loose their eyesight and suffer with dementia. Currently there are only around 50 children with this disease within the UK.

There is no cure for this vile & cruel disease BUT as of 2019 a treatment - enzyme replacement therapy given via a catheter in the brain - had come out of trials and is now in a ‘Managed State until 2024’ and thankfully is avaliable to Isaac. Just last Friday he underwent the surgery to place the catheter into his brain. Going forward he will now require fortnightly infusions at GOSH. We are hopeful that this treatment will slow the progression of the disease. Unfortunately it will not slow the loss of his eyesight.

As you can imagine my sister and brother in law are in pieces as they work to process all of this. It is a lot to take on in two weeks and the uncertainty of the future is heartbreaking.

Adaptations are going to be needed to their home but their first priority is a buggy. Isaac is not able to walk far now and often has to be carried. Those of you with 5 year olds know, this is not an easy thing to do. Although simple strollers for disabled children are available to buy they will not allow them to give Isaac even the basic of experiences they hope to do as a family - country walks, hiking, visiting the beach etc as they are not suitable for multi-terrains. Unfortunately the buggies are not cheap, especially when so many other pieces of equipment will be needed to be purchased. The cost of the changes to their home. Aswell as the expense of travelling to London every 2 weeks.

Our family would be very grateful for whatever you can spare to help ensure that Isaac has the quality of life that he deserves. He is the happiest little boy and although he cannot communicate well, his giggle and excitement shows in his eyes. All money raised will be used towards purchasing aids and equipment for Isaac, making the changes needed to their home and to help cover the expenses needed for travel to and from London.

Along with this page here, as a family we are determined to raise awareness of Battens Disease so that early diagnosis can help children in the future. Updates on Isaac will be posted here when they become available.

We all hope that one day a cure can be found.

Thank you for reading

Liane - Isaac's Auntie.