Fatal Disease Takes Kids' Vision, Mobility

Nov. 13, 2008 — -- At age 4, Nathan Milto was a typical preschooler: he enjoyed singing songs, playing on the computer and practicing hockey slap shots with his Dad in the basement of their Indianapolis home.

But in a just a few months, a rare neurodegenerative disorder known as Late Infantile Batten disease would transform Nathan's happy childhood into a living nightmare.

By his fifth birthday, the disorder had caused Nathan to lose his eyesight, and at age 6 he was put on a feeding tube.

"We had absolutely no idea this would happen," said Tricia Milto, Nathan's mother. "He was a perfect baby – Nathan actually hit all his milestones three to six months ahead of where he should be – until he turned four."

As Nathan approached his seventh birthday in 2001, he had lost his ability to walk and talk and was bedridden, unable to communicate except by way of facial expressions and an occasional hand gesture.

Meanwhile, Tricia and her husband Phil Milto had been noticing similar problems with Nathan's younger brother, P.J., who at just three and a half years old was also having trouble seeing and communicating.

Like his brother, P.J. became one of only approximately 500 children worldwide diagnosed with Batten disease. P.J.'s condition progressed so quickly that just two years later the six-year-old was uncommunicative and confined to his bed.

According to Dr. David Pearce, an associate professor at the Center for Neural Development and Disease at the University of Rochester Medical Center who has been researching Batten disease for more then 10 years, the cruelest part of the inherited disorder is the delay of noticeable symptoms.

"You'll have a child who is a fully formed five-year-old and then you will gradually take all of their functions away – starting with their vision and then their brain eventually deteriorates," said Pearce.

"The body tries its best to compensate for the [defective gene] but it reaches a threshold [around age five] where it just can't cope anymore," said Pearce. "That results in a system breakdown."

But standing idly by to watch his two sons slowly die was not an option for Phil Milto, who has now spent more than 10 years trying to find a treatment for children with Batten disease.