6-year-old girl born without bones sees improvements - WKRN News 2

6-year-old girl born without bones sees improvements due to new drug

Posted: Updated: April 3, 2013 09:01 PM
NASHVILLE, Tenn. -

A six-year-old little girl born without bone structure is beating the odds at Vanderbilt's Children's Hospital in Nashville.

Janelly Martinez has hypophosphatasia, which is a rare and sometimes fatal metabolic bone disease.

It is so rare that it only affects one in every 100,000 children.

About half of patients born with hypophosphatasia don't even see their first birthday, but Janelly has had six.

For the past three years, she has been taking a newly developed drug that has enabled her body to grow bone.

Dr. Michael Whyte, M.D. with Shriners Hospitals for Children in St. Louis wrote the protocol for the drug that Vanderbilt is now using on two children with hypophosphatasia.

Those two children are among 10 around the world partaking in use of the new drug.

So far, Janelly is no longer on a ventilator because she now has ribs, and can also move her head and arms for the first time.

"When she began treatment at age three, she couldn't move her arms or her head, couldn't really move at all, and at nine months we started to see mineral going into the bone, so we knew then that the enzyme replacement was going in a good direction," Dr. Whyte said said.

Her father said they never gave up hope and the new medication has changed their lives.

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