Boy going blind finally gets even more dire diagnosis

PARKER, Colo. — In 2012, KUSA-TV met now-11-year-old Nathan Hiltman's family after his mother, Stacey Hiltman, started a social-media campaign. She asked people to send her son postcards from all over the world so he could see as many places as possible before a degenerative disease took his eyesight.

See all the cards Nathan received here.

At that time, the family was searching for the reason why Nathan was losing his sight.

Three years later, they found out why. But now, they wish they didn't know.

"I would've been happy with him being blind," Stacey Hiltman said. "I could've handled that, and we thought that was the end of the world. Little did I know, at least if he was blind he'd still be here."

Nathan was diagnosed with Batten Disease, a rare degenerative neurological disorder that affects one in 100,000. It will eventually take Nathan's life.

Boy with painful 'butterfly skin' disease inspires

"I don't know the reason for this," Hiltman said. "I don't know. I hate it. I hate what it's done to him because I'm losing him inch by inch. I want my little boy back. He's not the same little boy."

Dr. Pete Baker, a pediatric genetic specialist and Nathan's doctor at Children's Hospital Colorado, said, "For the patient, it starts out with vision loss and progresses to motor dysfunctions, not being able to move appropriately, speech dysfunction, not being able to talk appropriately and ultimately a shortened life span, over the course of decades though."

Children are typically diagnosed between 5 and 10 years old. Clinical trials on treatments are pending, but there is no cure for Batten Disease.

"It's frustrating — as a physician dealing with a rare disease — to not have an answer and not to be able to give the family that hope," Baker said.

Diagnosing a child can be challenging as well.

"We go down the list of things that might be treatable," Baker said. "We start to hunt for genes and that process can take a long, long time. The initial testing that we did, including some screening for this disorder, came back negative [for Nathan]. Turns out that screening test isn't very good for kids that are Nathan's age with his lack of symptoms. He wasn't having neurologic symptoms. He wasn't having seizures. This test is not great for screening for that at that young age. All those tests came back negative. So, we moved on to genetic testing."

Hiltman wishes she could protect Nathan from his diagnosis.

Rare disease could turn boy into 'mannequin'

"It's just like this clock that's just ticking," she said. "It just get louder and louder and louder."

All she can do is talk about it, educate herself and others.

"I want to save my son," she said. "I just want this word to get out there so that people know what this disease is so they can understand it."

To learn more

• The Batten Disease Support and Research Association: http://bdsra.org/what-is-batten-disease/

• Stacey Hiltman's blog: http://sothathecansee.com/

• Nathan's GoFundMe page: www.gofundme.com/nathanfightsbatten

• Nathan's Facebook page: https://www.facebook.com/SoThatHeCanSee/

Follow Anastasiya Bolton on Twitter: @abolton9news