Girl With Rare Disease, Cystinosis, Can't Sweat

Larimore and her husband, Jeff, started noticing problems when Sarah was a baby. She was the youngest of their four children. By the time she was a year old she wasn't growing and needed to drink two gallons of water a day, her mother said.

"Being she was my fourth, I knew something was wrong," Katie Larimore said. "Sarah was very, very tiny at this point because she had stopped growing. I went from doctor to doctor until I found one that believed me."

Sarah's parents say they lucked out. They found a doctor who was treating another child in South Carolina for cystinosis. Soon Sarah was diagnosed. Only two labs in the country can test for the disease, her mother said.

"It was confirmed she had cystinosis and it was going to be a battle," she said. "But we had a name for it we knew what we were battling."

At their first national meeting for parents of children with the condition, eerily, the children of the genetic disorder looked like siblings, Katie Larimore said.

"They all kind of look alike. It's kind of scary," she said. "I thought we were going to pass out."

Last month the Larimores traveled with eight other families with children who have cystinosis to the Capitol to meet with legislative aides of 35 members of Congress. As the March 1 sequester budget cuts loomed, they argued in favor of keeping funding for programs designed to help people with rare illnesses, they said.

Those include the Orphan Drug Act of 1983, which gives pharmaceutical companies tax incentives and other help to research rare illnesses.

A Medicare policy known as TEFRA, or the Tax Equity and Fiscal Responsibility Act, allows middle-class families in 26 states to get federal dollars to help pay for care costs involved helping children with disabilities and serious illnesses. Each month the Larimores spend about $5,000 on medication, doctors' visits and supplies, most of which is currently covered by insurance, they said.

Finally the Larimores asked Congress to not slash funding to the National Institute of Health, which performs research on rare diseases.

"Right now we're coming down to the wire," Katie Larimore said. "As a mom, we'll fight for our kids. There's a lot of us out there who need that kind of help."

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