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Gideon Siemens was born with hypophosphatasia, a rare genetic disease that left his bones too brittle to touch. Trial drug enb-0040, which purports to deposit calcium and phosphate in the bones, is seen in this undated video image. Trial drug enb-0040, which purports to deposit calcium and phosphate in the bones, is seen in this undated video image.

Trial drug could help patients with bone disorder

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CTV News Video

CTV National News: Jill Macyshon on the drug
There's a hopeful report about a disease that threatens the lives of babies.

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Gideon Siemens was born with hypophosphatasia, a rare genetic disease that left his bones too brittle to touch. Trial drug enb-0040, which purports to deposit calcium and phosphate in the bones, is seen in this undated video image. Trial drug enb-0040, which purports to deposit calcium and phosphate in the bones, is seen in this undated video image.

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Gideon Siemens was born with hypophosphatasia, a rare genetic disease that left his bones too brittle to touch.

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Date: Sun. Feb. 13 2011 10:41 PM ET

Matt and Nicole Siemens have been waiting four months to have their baby Gideon in their arms.

Gideon was born in Edmonton with hypophosphatasia, a rare genetic disease that left his bones too brittle to touch.

He had no skull. His ribs fractured at birth. Even a diaper change broke his legs.

"It's the worst feeling ever," Nicole Siemens told CTV News. "You can't pick up your baby, he's in immense pain."

Now children like Gideon have a chance.

Enobia Pharma, a small Montreal-based company has teamed with the Winnipeg Health Sciences Centre and they may have found a potential cure.

A trial is underway for the drug enb-0040, which purports to deposit calcium and phosphate in the bones.

Three months into treatment, Gideon's bones had grown from the size of spaghetti to something close to average. His parents called it a miracle.

Dr. Cheryl Rockman-Greenberg said Gideon's recovery has been outstanding.

"This is one case where the results have been nothing short of dramatic," said Rockman-Greenberg.

So far, 33 patients have taken part in the test, including older children who were found with less-severe cases later in life.

A girl who was brought to Winnipeg from Belize shortly after birth, unable to move her arms or legs or breathe on her own, is now in recovery.

Another child, Amy from Ireland, was the first child to be treated by the drug. Three years after being on death's door, Amy is thriving as an ordinary child. She enjoys playing in the park with her sister.

Her success has given other parents, and Dr. Rockman-Greenberg, hope for the future.

"There's nothing that I see that leads me to be anything but totally optimistic that we will turn a previously untreatable disease into a treatable disease," Rockman-Greenberg said.

With a report from CTV Winnipeg's Jill Macyshon

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