Teen lives with condition that could take his sight, hearing

Teen lives with condition that could take his sight, hearing

One in 25,000 people worldwide is born with a genetic disorder that affects not one, but two of their most critical senses.

Life is full of such beauty. There's the music that makes heartstrings dance and the images that bring happiness to the soul. Imagine growing up seeing and hearing like everyone else, but slowly, all of that begins to fade.

At 14 years old, Blake Heck's vision is already failing.

"I can't really see that well at night and I can't really read from a distance," he said.

"We try and stay positive. I do worry about him though. Life every day is harder and harder," said Blake's mother Darci Heck.

Blake looks and sounds like a typical teenager.

"I like to play games a lot. I also like to read books and believe it or not, I find math fun. It's challenging and challenges are always fun," Blake explained.

Blake faces a challenge that will change his life forever. His story begins at birth. Just a few hours old, his parents were informed he was born with little to no hearing.

"It was hard, it's like I didn't want to accept it and there were days that he was sleeping in his crib that I would walk into his room and clang dishes, he would sleep," Darci explained. "I was so angry because I ate the right foods, I took the right medicine and I saw my doctor like I needed to and I didn't really understand how it could happen."

Months of testing proved Blake had a rare genetic disorder.

"We found out he had Usher Syndrome," Darci said.

It's a condition that causes people to go deaf and blind. Blake was born with the worst form, Type 1, which includes deafness at birth and balance issues. Not wanting their son to grow up any differently than other children, Blake's parents fought to get him a cochlear implant. At 14-months old, he was the youngest person to ever receive one.

After the surgery, Darci worked tirelessly to help Blake process the new world to which he'd been exposed. She used Walmart as her schoolhouse.

"So I'd take him there and I'd show him a can and let him touch it and show him round and soft and rough," Darci explained.

From an early age, Darci encouraged Blake to embrace his other senses; smell, touch and taste. She knew, eventually, that is all he will be able to rely on.

"I said, you know, one day you're going to lose a lot of your vision. I want you to feel everything, I want you to touch this and I want you to see as much as you can see before then," Darci said.

With Usher Syndrome, vision is slowly reduced to only about a pin sized hole poked through a piece of paper.

"For many of these patients, they go through several stages of grief as their new symptoms come about," explained Jennifer Lentz, Ph.D.

Lentz is a researcher at LSU Health Neuroscience Center, and an expert on the condition.

"Today there are 11 genes that are known to carry mutations that cause Usher Syndrome and one of those mutations in one of those genes is carried in the Acadian populations here in Louisiana," Lentz explained.

This state has the most cases of Ushers Type 1. Type 2 is the most common form worldwide. People are born with some hearing impairment but they're not deaf and they don't lose their vision until late adolescence or early adulthood.

The third type is the rare. Hearing loss is gradual and blindness doesn't occur until the second or third decade in life. It's a recessive disorder meaning both parents must have the mutation in order to pass it along to their child.

"In some close knit communities, the frequency is increased. In some populations it can affect up to one in 6,000," Lentz explained.

While there's no cure, researchers are testing different treatment options. There are studies underway for a gene therapy approach and stem cell therapy. At the LSU lab, Lentz and her team are developing a molecule that would force the mutation that causes Ushers, to act normal. However, the advancements are still years away and may not be developed in time to help Blake Heck.

"I think about it every day. I'm gonna' get through it," Blake said.

Blake is in a race against time. Before his vision worsens, Darci wants him to experience a rite of passage for any teen; freedom out on the open road.

"Hopefully we'll get a few years of driving in before that happens and put our feet on a pedal," Darci said.

Once that luxury becomes too difficult, Blake will have other milestones to look forward to - just like his two younger siblings.

"Individuals affected by Usher Syndrome live a long life. They go to college, they have careers, they get married, they fall in love," Lentz commented.

That's exactly what Darci envisions for her son, with a little help of course.

"I never want him to struggle and I'm very protective so if I have to go to college with him, I'm ready to go to college with him," Darci joked.

Blake Heck says he's excited about his future, although uncertain as it may seem right now. But selflessly, he's most eager to see what Dr. Lentz and her team can develop to prevent others from suffering.

"I know I'm not the only person out there that's got Ushers and I'm certainly more fortunate than other people out there and I hope she's really successful for finding her cure and her research to help the other people that have it," Blake said.

The future will inevitably look dark but Blake says thanks to his support system, mainly mom Darci, his life will feel so rich.

Copyright 2014 WVUE. All rights reserved.