Fixing Bad Bones

ST. LOUIS, MO (American Health Newswire) - Painful steps, weak bones and shorter limbs. These are just a few of the problems patients with a certain bone disorder face every day. And until now there was nothing doctors could do to fix it. This new treatment is giving young patients hope for a better life.

Purses, shoes and blouses; for Karlee Wurster who was recently diagnosed with a genetic disorder, this is normal. But early on, the 16-year-old knew something about her was very different. "I had an aide that walked around with me," she told American Health.

At six months old, Karlee 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 said.

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

"She frequently started using a wheelchair," Katherine L. Madson, PhD, MD, a pediatric rheumatologist at the Center for Metabolic Bone Disease and Molecular Research at Shriners Hospital for Children, told American Health. "I just tried to cope with it," Karlee said.

That was until four years ago, when researchers began testing a drug called ENB 0040 that replaced her missing enzyme -which is 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, 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. Madson. While others assessed their success with steps, Karlee counted something else. "Shopping. I mean I used to only go like 20 minutes," she said. Karlee's mom Kimberly told American Health, "She can do at least 2 hours."

After six weeks she the pain was all but gone, and so was her wheelchair. "We're shoe shopping a lot," Kimberly laughs. It's a pain free shopping spree and Karlee's breaking the bank, not her bones.

Dr. Madson says side effects of the drug she hears about from patients include stinging and bruising near the injection site. Researchers don't yet know if patients will have to continue injections for the rest of their lives. The drug is in phase two clinical trials and is not yet FDA approved.

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