Omaha girl gains vision from gene therapy study

FDA will decide if safe for the public
Posted at 7:59 AM, Nov 17, 2017
and last updated 2017-11-17 11:04:25-05

OMAHA, Neb. (KMTV) - A clinical research study on gene therapy is presently in the hands of the U.S. Food and Drug Administration, developed in Iowa.

Could the answer to improve vision, including a rare blindness, be found in the research depends on what the agency determines in January after reviewing it in October. However, a metro teen believes it’s a medical miracle.

Molly Troxel, 15, was born with Leber Congenital Amaurosis, a blindness inherited when both parents carried the recessive gene.

“When she was born, she was born with 10 toes and 10 fingers just like any other child,” said her mother, Laura Troxel. “We brought her home and thought everything was normal.”

Except, the parents noticed something else.

“She would look all around wherever a light was,” Laura Troxel said. “She had to turn her body to look at a light.”

The family called her, ‘The Light Hog.’

After seeking several medical opinions, ophthalmologists confirmed that Molly Troxel’s RPE6 gene mutated.

A trip to Iowa City to visit Dr. Edwin Stone revealed a research team he worked with was in the midst of a clinical trial for vision improvement. The moment, pivotal – as the medical team successfully restored a dog’s vision after being blind.

The team created a man-made gene at the University of Iowa, said her mother.

Ever so brave, Laura Troxell said, Molly told her she wanted to participate.

At first, her parents were hesitant.

Still a young Molly Troxell, at around seven or eight years old, sent a letter to Stone writing, “I don't care what you have to do [my eyes]. I just want to see.”

After months of participating in the study – just as she prepared for the surgery – her epilepsy grew out of control and deemed her to be an unlikely candidate.

Years of testing went out the window. The now-teen said she thought it was unfair.

So, Stone suggested she might be able to continue, if she could manage her seizures for about a year.

By August 2013, she proved she could after going through the testing again.

Her journey and the medical research chronicled in a PBS film ‘The Gene Doctors’ and showed surgeons at work.

First, her right eye. The following week, the other.

At first, Molly remembered not noticing anything for about a week.

But then she noticed the lights on the car whenever her family pressed the car key button. The moon. By fall, Molly’s parents had a hard time bringing her back home after a night of trick-or-treating.

“Even though the study had some risks to it. It was worth going through it and doing the trial because of all the stuff [Stone] tried to figure out. It worked,” Molly Troxel said.

Some risks included worsened vision and even death, after a candidate did not survive, Laura Troxel said.

But the gains, she believes are incredible as she looks to her daughter. She’s active outdoors whether riding her bike or golfing and loves creating art.

I think there were about 28 people in Molly's vision group, most people had had successful results and I think age had something to do with it, Laura Troxel said.

When asked what’s her vision like, Molly Troxel simply says, “It’s not perfect, but it’s perfect for me.”

She still needs a magnifier at school, reads large print and uses a cane when walking in public so people are just aware, said her mother.

The family continues to use descriptive words when pointing things out.

With the surgery, nothing is off the table.

The teen girl plans to get behind the wheel. But first, she’ll need to get a pair of bioptic lenses and pass her driver education course.

Also on the horizon, a possible career as a cardiothoracic surgeon.

To this day, she still wears a ring with a Bible verse as a reminder of what got her through her darkest times after years of gaining newfound freedom with her sight

“On the outside, it says, ‘Faith,’” she explained. “ Then on the inside it say, ‘I walk by faith not by sight.’”