09 June 2010

Significant milestone for Augustine Heights boy Jack Skilton

IT is a milestone his parents feared he may never reach.

Jack Skilton, who has Hurler's Syndrome, plays in
his cubby house and fort.

IT is a milestone his parents feared he may never reach.

Jack Skilton, who suffers from a rare genetic disorder known as Hurler's Syndrome, will enjoy his 10th birthday party on Saturday.

The rare metabolic condition means his body does not produce an enzyme necessary to break down carbohydrate and sugar complex waste products causing a build up in all major organs, muscles and joints.

Over the long term, this build-up causes damage to all major organs along with changed appearance, curvature of the joints and blindness.

With doctors recommending bone-marrow transplants for those with the syndrome before the age of two, the family conducted a frantic four-month search around the world for a suitable donor.

When no donor was found in Australia, a perfect match was found in the United States, with Jack undergoing the life-saving transplant at 18 months.

While the transplant was a success, he contracted meningitis about 18 months later, leaving him intellectually impaired.

Mum Robyn Skilton said the tenth birthday celebration was a major milestone for the family.

"Ten was the big one," Mrs Skilton said.

"That was the marker.

"We know that if he hadn't had the transplant he wouldn't be here."

Enjoying swimming and Thomas the Tank engine, the active little boy also loves to play in his cubby house and fort, obtained through the Make a Wish Foundation almost six years ago.

The Augustine Heights mum said his birthday party would bring together people who had helped her son to see his birthday.

"His paediatrician is coming and metabolic people from the hospital," Mrs Skilton said.

"People who have helped him along the way."

As one of only an estimated six children in the country to be diagnosed with the syndrome, she said the future was uncertain.

"The oldest person with the syndrome is about 20," Mrs Skilton said.

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