This is Ella. She’s 5 years old. She’s a gorgeous girl, full of life. When she was a toddler her mother started to notice some differences between Ella and other children her age. The doctors dismissed her concerns until about a year ago, just after they moved to Dorset, she was diagnosed with Sanfilippo disease type B.
Sanfilippo is a heart-breaking condition that gradually breaks down children’s physical and mental abilities, which means Ella’s development will slowly deteriorate until her body is unable to support itself and she will die in childhood. It’s an absolutely heart-breaking prospect for a parent – to know that without help they will lose their child.
However, there is hope. There is a treatment known to dramatically improve the lives of Sanfilippo sufferers but it is not yet available in the UK as it hasn’t been clinically tested. £580,000 is needed to fund a clinical trial at Manchester Children’s Hospital, so that Ella and hundreds of children like her can receive this treatment that could save their lives. This treatment is known to work and is literally ready NOW, it just has to go through the necessary tests which cost the money. Once the trial is carried out the treatment can be made available, at very little cost, for Ella and other children with this disease all over the world.
There are 130 families in the UK who have children with Sanfilippo disease. They have got together with the MPS Society to try and raise the funds.