Rare disease strikes N. Texas family twice




Posted on August 15, 2009 at 4:37 PM

Updated Tuesday, Oct 20 at 12:02 PM

Janet St. James reports
July 21, 2008

While there have been less than a dozen known cases in the North Texas area, one Arlington family has been afflicted twice by a disease that was at first misdiagnosed as autism.

Three-year-old Katie Limer is like most toddlers in many ways. She loves to play with her dolls and also enjoys singing. But two months ago, her parents noticed symptoms that were very un-childlike.

"Her speech has become very slurred, very thought out," said Thad Limer, Katie's father. "If she tries to feed herself, or do stuff with her hands, they shake. She falls down a lot."

Thad and Leah Limer recognized the signs as symptoms they had seen before. The symptoms were the same that robbed them of their son, Andrew, when he was 9 years old.

Andrew was diagnosed with Niemann-Pick Type C, a genetic disease that causes a buildup of cholesterol in the liver, spleen and brain. It is sometimes referred to as a pediatric version of Alzheimer's.

"And the effects on the brain eventually produce symptoms of dementia, and Alzheimer's and Parkinson's," Mr. Limer said. "But on a child, they lose everything; and it's usually one step at a time."

Niemann-Pick Type C is so rare that it affects only about 500 people worldwide. It is always fatal, usually in childhood.

"All we can do is help the children and the families cope as well as we can, but we don't really have a way to stop the progression of the disorder and we're working very hard to find ways to do that," said Dr. Lewis Waber, a genetic specialist at Children's Medical Center.

Dr. Waber said there is one experimental drug that may slow the disease. The Limers are hoping more awareness could help find a better treatment.

"We know what's in store for her and I can't think about that," Mrs. Limer said. "I have to take care of the little girI I have today; and she is a happy, rambunctious 3 year old."