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New therapy gives Coby’s family hope

2.5 from 8 votes
Tuesday, December 29, 2015

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Clinical Trials

When he was diagnosed with Morquio A syndrome at age three, he was the only person in WA with the condition, which stops the body from producing an enzyme that breaks down waste products.

One of a cluster of rare diseases known as mucopolysaccharides, it causes progressive damage throughout the body, including the heart and lungs.

The 13-year-old has faced six knee operations to correct severely malformed joints, and until two years ago there was little doctors could do to stop the degeneration that was making his body waste away.

But an experimental enzyme replacement therapy has changed all that.

Every week for the past two years, Coby and his mother Sonia Antonio have gone to Princess Margaret Hospital for infusions as part of a clinical trial.

Since he started on the therapy he has gained 8kg, improved his muscle tone and can walk further.

But while it is the only approved treatment for Morquio A, it is not on the Pharmaceutical Benefits Scheme.

The Pharmaceutical Benefits Advisory Committee is due to consider it for funding in March.

Mrs Antonio said that the experimental therapy had given their family hope.

"Before he started on the treatment he had next to nothing in the way of muscle tone, and it's also given him more stamina so he has a better kind of normal," Mrs Antonio said.

"There are also all the internal benefits of the drugs that mean he will have a longer, healthier life.

"It would be almost cruel now if he could not keep having it and we had to just sit and watch this degenerative disease."

Author: Cathy O'Leary
Source: The West Australian
2.5 from 8 votes
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