Coby Antonio (13) has a rare genetic disorder, Morquio A, and his family hopes his therapy will be added to the Pharmaceutical Benefits Scheme next year.
His mother Sonia said Morquio A was a debilitating syndrome, which affects about 1 in 169,000 Australians, and until recently there had been no treatments available.
“They can develop lung and heart and breathing problems,” she said.
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READ NOW“There was nothing at all for sufferers. It was just day by day; when things went wrong, fixing them up and hoping for the best.”
The disorder affects Coby’s body, heart and organs, and he has already been through six knee operations on malformed joints.
Diagnosed aged three, the teenager has received more than 100 infusions through a clinical trial, which tests a therapy already approved in the US.
Coby travels to Princess Margaret Hospital every two weeks to receive the enzyme replacement therapy infusions.
“He has had increased muscle tone and strength,” Mrs Antonio said.
“He has put on weight; he was very skinny before.
“He has got stamina; he can join in activities for longer.
“Eighteen months ago, Coby wouldn’t have even thought of taking the dog for a walk.
“Now that he has got the extra strength, he is taking the dog out.
“If we can have this drug, they are just going to lead better lives.”
Morquio A is part of a larger family of rare diseases called mucopolysaccharide (MPS), caused by the body’s inability to produce an enzyme required for breaking down waste products.
According to MPS Australia, the enzyme deficiency causes progressive damage to cells and tissues throughout the body, heart and other organ failure, and reduced life expectancy.
The Pharmaceutical Benefits Advisory Committee is expected to make a decision about including the therapy in the scheme at its March 2016 meeting.
For more information, visit www.mpssociety.org.au/mps-iv .