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Local teen hopes NIH trial will slow progression of rare disease

By Tatevik Aprikyan
Published On: Mar 07 2014 10:45:23 PM CST

Teen hopes NIH trial will slow progression of rare disease

A sixteen year old Idaho Falls teen is one of nine people in the country to participate in a new National Institutes of Health clinical trial for a very rare genetic disease.

The disease called Niemann-Pick Type C only affects 500 people worldwide.

It is a genetic disease, so the parents have to carry the gene mutation for the child to get it. In this case, both parents carried the gene mutation.

Sixteen year old Kristin Wells has faced incredible odds battling a rare genetic disease. She was diagnosed at 12 years old with Niemann-Pick Type C.

"We were thinking more like some kind of tumor that was pressing on the brain, we didn't even, it wasn't even conceivable it was something genetic," said Lori Wells, Kristin's Mom.

As the youngest of six children, her parents noticed changes happening around the time Kristin was in second grade.

"I go back and look through pictures and you can see a point where things changed," said Wells.

She says around that time she noticed Kristin was gaining weight and slowing down in school.

"She was having a harder time reading, having a harder time remembering some math facts," said Wells.

The type-C form of this disease means Kristin's cells are not able to metabolize cholesterol and lipids. The excessive amounts, make their way to the liver, spleen and brain. The disease begins to affect a person's neurological function and the average life expectancy is 25.

"Thinking about a life being cut short, her not being able to do everything that all the other kids had done."

But neither Lori nor Kristin wallow in the devastation.

There is no cure for the disease, but they hope this clinical trial will at least slow the progression.

"I'm very hopeful about the trial," said Kristin.

Kristin heads to Maryland to start the NIH trial next week.

The clinical trial is the first of its kind on humans. Kristin will essentially have a special compound injected into her spine to hopefully keep her cells from dying.

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