Living with Lafora: rare disease affecting Malden teen

MALDEN, MO (KFVS) - A Malden teen is fighting a battle that looks like, unless there's a miracle, it can't be beat.

Jake Buie though isn't suffering alone. He has his family and friends to help him as he lives with something called Lafora, a disease with no known cure.

While the prognosis is grim Jake has an unbelievable attitude, and friends that want to make a difference.

"A normal kid, loved baseball, games. He was a normal kid. Normal boy", said Jan Blume-Jake's Mom.

Jake Buie's family never had any reason to believe he was any different than any other child...until August of 2001.

Just before his 10th birthday he had his first seizure.

"Everything just seemed to go downhill from there", said Blume.

His mother Jan says they tried everything.

"We went from medicines to diet, to a VNS being put in. Nothing ever changed", said Blume.

Six years later, Jan says they tried a different pediatric neurologist who ran a routine blood test.

"From that one visit we found out he had Lafora."

It's something she'd never heard of.

Lafora disease is a very rare genetic disorder that causes severe seizures and dementia, ultimately causing death---in most cases before the age of 25.

"To go from having a normal child to having a child that's dying is an emotional thing to go through", said Blume. "It's been like a death all along because slowly he's been losing who he was."

Jake is now 18 years old, and next month will graduate from high school.

"It's been hard to see how this disease has affected him", said friend Taylor Shelton.

Instead of raising money for a class trip or for some type of memento that they'd likely end up tossing aside, they pulled together to raise money for Lafora research.

"We wanted to do something special for him because he's always been one of our classmates, and he hasn't been able to be involved because of the disease so we wanted to do something special for him", said Shelton.

Friend Chris Bennett says "In a weeks time we raise almost $1000."

"I didn't think we would get this much but it was awesome to see 500 students and faculty come together to help one kid", said Shelton.

It's a gesture Jake's mom certainly appreciates. "It means a lot", said Blume.

Jake Buie is set to graduate May 16th from Malden High School.

Copyright 2010 KFVS. All Rights Reserved.