Sam's transformation

Sam before ERT

Looking at these two pictures it’s hard to believe that they’re of the same boy.  Sam was born with a very rare genetic disorder called Hunter disease.

It’s also called MPS II as it’s one of a number of many mucopolysaccharide conditions.

Mucopolysaccharides are sugar molecules in the cells in our bodies.  We have an enzyme which breaks them down ready for them to be disposed of and replaced with new ones.

But the gene that tells Sam’s body to make that enzyme doesn’t work.

As a result, these sugars gradually build up, damaging different parts of his body which affect the way it grows, works and looks.

Sam’s liver and part of his heart were enlarged, he had a swollen stomach and he was much shorter than he should be for his age.

“It’s hard to tell if Sam’s face is different because we see him everyday!" says his mum, Jo.  "But his life has changed so much.  I want other families to draw hope from Sam’s experience of having enzyme replacement therapy.”

Sam after ERT 

Sam’s been part of a clinical trial for a treatment called enzyme replacement therapy.  As its name suggests, it puts into his body the missing enzyme and you can see the results!

Over the last three years his family has seen huge changes in him.  His organs and his stomach are all back to normal, he’s almost the same height as other 12 year olds and his face is now developing properly.

ERT is now available in England to all children like Sam.  But this isn’t the case in Wales and Scotland.

The MPS Society is working hard to change this, as well as providing families like Sam’s with the support and information they need.