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Hypophosphatasia drug helps young people with bone disorder

August 24, 2012 12:00:00 AM PDT
Early on, 16-year-old Karlee Wurster knew something about her was very different.

"I had an aide that walked around with me," she said.

At six months old, Wurster was diagnosed with a genetic and sometimes deadly disorder called Hypophosphatasia.

"My bones are under mineralized, so it means they're just weaker than everyone else's," she explained.

For some infants, the diagnosis can be a death sentence. For others, it brings frequent bone breaks. For Wurster, it meant a life of pain.

"I just tried to cope with it," she said.

That was until four years ago, when researchers began testing a drug called ENB-0040 that replaced her missing enzyme needed for bone growth and calcification.

Once injected, the drug goes straight to the bone. Similar to insulin injections, patients inject themselves, sometimes daily. Within weeks some infants grew new bones and some reached other milestones.

"They'd come in and show us how far they could jump or look at how fast I can walk," said Dr. Katherine Madson with Shriners Hospital for Children.

While others assessed their success with steps, Wurster counted something else.

"Shopping. I mean I used to only go like 20 minutes," she said. Now, Wurster's mother says she can last at least two hours, and they're buying more shoes than ever.

After six weeks the pain was all but gone, and so was her wheelchair. It's a pain-free shopping spree and now Wurster is breaking the bank, not her bones.


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