In March 2014 our beautiful 9month old son Paxton was diagnosed with a rare disease called Mucopolysaccharidosis II (also known as Hunter Syndrome).
In short his body is missing an enzyme which helps break down waste products in his body meaning they build up and ruin his organs, joints, bones and in severe cases like Paxton’s case can affect him neurologically.
Paxton started having ERT (enzyme replacement therapy) just before he turned 1. Then in August 2014 we decided we would proceed with a Bone Marrow Transplant which would hopefully help his body produce the enzyme meaning it could get to the brain and help slow progression of the disease. Paxton developed serum sickness from one of the chemo drugs and become very sick, he was given his own bone marrow back to save him and the donor cells were cancelled. He then recovered from this transplant and was in isolation until his second transplant where we tried again.
Paxton’s second transplant went ok and he received his donor cord blood cells on the 9th December 2014. He is now over a year post transplant.
Paxton is the second boy in Australia to have this done for his disease, meaning nobody could tell us if it would work and what it would mean for his future.
Paxton has normal enzyme levels which means he doesn’t need ert weekly. But he still has problems with his ears including constant ear infections and hearing loss, orthopaedic issues(one which he will be a pelvic osteotomy in March), speech therapy, physio etc.
this is just a short summary of his disease.