Monday, July 2, 2007
Medical Reports: Help for Hunter's Syndrome
It's a genetic disease that leaves children's arms and legs useless and often takes their lives prematurely. Until now there was no treatment for Hunter's syndrome. But, as Seven's Richard Lemus shows us, there's drug that's offering Help for Hunter's.
WSVN -- When Janine Townsley gave birth to her second child Zach, things couldn't have seemed better.
Janine: "The doctor that we still see to this day said you have a perfect baby boy."
But by the time Zach had reached 3 years old, Janine knew something was wrong.
Janine: "In time, this disease presents itself, and you start to see symptoms. He had the curled fingers, he had the bent knees whenever he walked, he had the coarse hair, he had rough skin."
Zach had all the symptoms of a rare genetic disease called Hunter's syndrome, which can lead to premature death. Janine and her husband didn't know they were carriers of the gene, so when the diagnosis was confirmed, her world fell apart.
Janine: "When it was confirmed, April 5th, is a bad day. There was no choice but to accept that he might not live a regular life."
Up until now, regular life for Zach had meant losing mobility in his arms and legs. He couldn't feed himself or run like the other kids his age.
Janine: "There was no treatment, no cure, no nothing, just hope."
But hope recently came with the FDA approval of the drug Elaprase. Once-a-week infusions of the drug replaces the missing enzyme that Hunter's patients fail to produce enough of.
Dr. Paul Benke of Joe DiMaggio Children's Hospital: "The prognosis is different now that there is enzyme replacement therapy treatment. If gotten early, the enzyme replacement therapy can minimize the facial features, the arthritis that develops."
Since Zach's treatment started at Joe Dimaggio Children's Hospital eight months ago, his hair and skin have become softer. He's also able to move his arms and legs much better.
Janine: "He's able to walk longer, he's able to walk further, he's able to play, he's able to feed himself. He's happy."
And mom is happy the drug is keeping her little boy around much longer.
Janine: "It's giving him a future that he might not have had otherwise. It's giving him life."
Richard Lemus: "Even though Zach is now 7 years old, doctors say he has the mindset of a two year old."
FOR MORE INFORMATION:
Dr Paul Benke
Joe Dimaggio Children's Hospital
For Drug Information: