Girl With Rare Disease, Cystinosis, Can't Sweat

Feb. 28, 2013— -- Sarah Larimore, 7, didn't always like summer.

She suffers from a rare genetic metabolic disorder called cystinosis, which prevents her from sweating. She lives in South Carolina, and can't stay in 80-degree weather for longer than 20 minutes, so during the summer she used to stay cooped up inside, her mother, Katie Larimore, told ABCNews.com.

Last summer her family built a swimming pool in their backyard.

"It was her first real, live outside summer," her mother said. "She just stayed in the water for three months."

Sarah is one of at least 25 million Americans who suffer from rare conditions, according to the National Institutes of Health, which recognizes today as Rare Disease Day. The last day of February has been promoted since 2009 by the National Organization for Rare Disorders (NORD) to increase awareness about the common needs of people with illnesses that not many others have.

People with a rare illness -- defined as affecting fewer than 2,000 people -- share common challenges: They have trouble getting an accurate diagnosis, finding treatment, and convincing insurance companies to pay for care, said Mary Dunkle, NORD spokeswoman.

"Even though each disease is different, the challenges of living with a disease that's rare is pretty consistent," she said.

Of the 6,000 to 7,000 rare diseases recorded in the U.S., treatment options exist for only a few hundred of them, Dunkle said. Treatment is more widely available than it was 30 years ago when NORD was founded, but there's a long way to go, a spokeswoman said.

Federal aid for people with rare illnesses is precarious, and it's often tough to persuade a pharmaceutical company to invest in treatment for a rare disease when there isn't a big payoff, Dunkle said.

Sarah, who loves reading and fashion as well as swimming, shares her diagnosis with about 500 Americans, according to the Cystinosis Research Network. A genetic metabolic disorder, cystinosis causes an amino acid, cystine, to accumulate in every cell of the body, damaging organs and blood cells. An estimated 2,000 people suffer from the illness worldwide.

Her daily regimen is grueling and embarrassing.

Sarah has to take 33 pills daily, a number that will increase to about 80 by the time she's a teenager, her mother said. Cystagon, a medication she takes six times a day, including in the middle of the night, makes her breath stink.

Every hour she has to apply eyedrops to prevent blindness. Seven times a day, she eats through a feeding tube, which causes a bump under her shirt. She has to get a daily injection of growth hormone.

Why she can't sweat is a "one of those mysteries of cystinosis," her mother said. If Sarah stays in the heat too long her cheeks turn red, her body temperature rises and she gets very faint.

Her mother visited Sarah's class to talk about her daughter's fragile condition.

"First-graders can be brutal," Katie Larimore said. But after learning about their classmate's condition, "they started talking about every uncle and cousin they had with an ingrown toenail. They felt empowered and embraced Sarah," she said.

Sarah will need a kidney transplant by the time she's about 15. But she can be considered one of the lucky ones. Children diagnosed years earlier than Sarah died by the time they were 15, he said. Now diagnosis is faster, her parents said.

A company is expected to get FDA approval for a new drug in coming months that could replace Cystagon. It would last for 12 hours instead of six, her parents said.

"Our kid would get to sleep all night. We would get to sleep all night," Katie Larimore said.

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."