Kids Fighting Rare Disease Find Support at Purdue

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Monday, January 28, 2013

The Smiths of West Lafayette are a basketball family. The kids love the game, the atmosphere and the Purdue Boilermakers — they even love the popcorn at Mackey Arena, said mom Julie Smith with a laugh.

"They love Purdue Pete, too, but who doesn't?" she said.

The family sits behind the bench at Purdue women's basketball games, and the players know 14-year-old Riley and 12-year-old Keaton by name. The siblings also count men's basketball coach Matt Painter as a family friend.

But Keaton and Riley aren't typical fans. They have a rare disease called Niemann-Pick type C.

This year, Painter chose the Smith Family BReaK Thru Fund as the organization to support in the Infiniti Coaches' Charity Challenge. The coach who receives the most votes online receives $100,000 for his charity.

"I thought it was a great thing to help a local charity and get behind it," Painter told the Journal & Courier. "We're trying our best to get a lot of support and attention."

Niemann-Pick disease type C has no cure and affects how the body processes cholesterol, impacting neurological body function to cause physical and cognitive delays. Keaton and Riley's brother Braden was 10 when he died of the disease in 2006. Older sister Chandlar, 20, is the only one of the four Smith children to not have the disease.

According to the National Niemann-Pick Disease Foundation, type C is rare and has an estimated 500 cases worldwide — although many more might go undiagnosed. The Smith family's fund has paid for more than $200,000 in research about Niemann-Pick type C at Purdue University.

Eric Barker, a professor of medicinal chemistry and molecular pharmacology, is one of five Purdue researchers working to develop a simple test to see if cells are using cholesterol correctly and screening potential compounds to be used as treatment.

"We want to find a potential treatment so that no more families have to suffer," Barker said.

Current medications help to prevent symptoms, such as seizures, and slow down the disease's progress, Julie Smith said. She said seizures and cataplexy are two of the biggest symptoms Riley and Keaton face. Cataplexy means that if either sibling is laughing too hard, they could lose control and fall.

"It's hard because you want them to smile and have a good time," she said. So the family is always ready to make sure Riley and Keaton don't hit their heads or get hurt from laughing.

The Smiths started the BReaK Thru Fund in 2008 as a way to raise awareness about the disease and help others.

"We looked at it as an opportunity to raise money and fund research here locally at Purdue," said dad Trent Smith.

People wanted to give money to help our family, his wife said. "But we would rather the money go to research and help more people than just our family."

Riley and Keaton have a more severe form of Niemann-Pick type C, Barker said. He said it can take a long time to diagnose because doctors don't typically look for it.

The disease is fatal, and it's unusual for someone with it to live to age 40; many children die before they are 20, according to the National Niemann-Pick Disease Foundation.

After her children were diagnosed, Julie Smith said she didn't go to the Internet to learn more about the disease. Instead, she focuses on her children, their needs and loving them. Trent Smith said the fund is a way to support his children and educate the community about Niemann-Pick type C.

Riley and Keaton use wheelchairs but stay active in physical and occupational therapy and have participated on baseball and cheer teams for children with special needs. And they have always attended a traditional school, their mom said.

Trent Smith said many people have asked how they can help, and Purdue has been a great supporter of the family. His wife agreed and said the support from other families, from Purdue, from friends, from neighbors and the community in general keeps her going.

"The community is so great," Julie Smith said. "It doesn't matter what (the disease is) called, the support is there."

Source: NECN

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