Children who can't feel pain struggle to cope with rare, incurable disorder

CHICAGO (MCT) - These children don't feel pain.

They cannot sense cuts, fractures, heat. They don't know not to bite their fingers or poke themselves in the eye.

That's because they suffer from hereditary sensory and autonomic neuropathies _ inherited disorders that result in nerve damage so severe the nerves fail to signal the brain to stop physically painful activity.

Their parents, however, acutely feel the emotional pain caused by their children's condition, for which there is no cure. They wage battles not just to get the right medical care for their children but to become experts on a disorder that is a mystery, even to many doctors.

"It's like living with an alien," said Jody Prunty of Wheaton, Ill., whose daughter, Sophie, 14, struggles with the disorder. "We've learned she doesn't follow anyone's textbook."

To try to understand and cope with the illness, parents have reached out to other families in the same situation, finding connections that have comforted them.

Hereditary sensory and autonomic neuropathies are an evolving area of neuroscience and medicine about which little is known, said Dr. Nancy Kuntz, a Mayo Clinic doctor specializing in neurology and pediatrics. Even categorizing the disorder into five types, as doctors have done, is misleading, she said.

"The science is being worked out as we speak," Kuntz said.

The life span of a person with a neuropathy "depends on how creative people are" in preventing and treating injuries, Kuntz said. "With modern medical care, in general, it is not a life-threatening illness. But it can cause a lot of complications."

The difficulties are immediately evident inside the Prunty home.

On a recent evening, Sophie was asleep in a netted bed with her hands covered by socks so she wouldn't accidentally hurt herself. Her mother monitored her daughter's image on a television.

Unable to feel pain, Sophie has bit down through her lips, losing teeth. She has poked her eyes, causing damage and a permanent need for goggles.

Complications from the neuropathy have severely restricted Sophie's life. She has a feeding tube, and two other tubes drain her stomach and large intestine. She has seizures and liver failure. She communicates by pressing buttons on a computer screen.

"It's sort of like winning the lottery _ but not the one you want to win," Prunty said. "Love her to death, but wouldn't wish her on anybody."

Sophie is considered a high school freshman but attends class taught by a special-needs teacher in a "schoolroom" at home.

"They couldn't tell us how long she could live, so it's an open book," Prunty said.

The Pruntys rotate shifts at their daughter's bedside when they cannot get a night nurse they trust. "We haven't been on a vacation alone since she was born," she said.

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Native American dream-catchers _ hoops with weblike nets _ decorate the home.

"I like the whole idea about catching the bad dreams and letting the happy dreams through," Prunty said.

The disease is so rare and all-consuming that many families feel isolated.

In Minnesota, the Gingras family was in and out of the hospital for the first three of their daughter Gabby's eight years. The girl poked her eyes so much her parents had them surgically sewn shut so they could heal. She wore goggles. She also bit her fingers, and eventually some of her baby teeth were removed (other teeth failed to grow in because of a jaw infection).

The family felt alone with their troubles until the local newspaper wrote a story about them in 2003. That led to appearances on talk shows and national news programs, and then the calls started to come in.

Families raising similar children contacted them from Norway, South Dakota, Germany, Washington and eventually Illinois and Wisconsin.

"We kept finding more people. We started to put together a list," said Tricia Gingras, 42. Soon the family started a foundation with about 40 members from across the world.

The foundation's Web site, www.gift-of-pain.org, is also a support group where parents can serve as a reference for one another and provide helpful pointers, such as wearing goggles to shield the eyes, protecting hands with athletic tape and using a timer for children to know when they need to use the bathroom.

Last year families flew to Minnesota to meet. Parents asked questions, gave advice and felt relief in seeing young adults, older than their own children, living with the disorder.

The children got something, too, that they had never experienced: other children like them.

The Prunty family and the Lojeski family of Wisconsin found each other more than a decade ago through an organization for children with rare disorders, but now these parents have more people to go to for help.

"It was nice to share stories," said Debbie Lojeski, 44.

Amanda Lojeski, 16, lives in a country-style home surrounded by fall-colored trees. Everything is orderly in the household, and all medical supplies are stored beneath the stairs or in a barn.

"I try to keep all of that put away," her mother said. "We tried to keep her as normal as possible."

But Amanda cannot tie her own shoes. She wears hearing aids. She has burned her hand with hot water. Only recently has she been able to use her sense of smell.

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Amanda, who enjoys singing, participates in equestrian therapy to help her walk. She is on a waiting list to get a help dog.

The family has encouraged the girl to participate in regular childhood hobbies such as riding a bike, though she once rode one made for her, with straps that held her feet on the pedals.

When asked about her life's challenges, Amanda says she has never had it any other way. "I'm so used to it," she said.

Soon she will become an adult, bringing new questions for the family. Will she drive? Will she go to college? Her parents worry about Amanda going to a new doctor when she is too old for her pediatrician. And they worry about who will care for her when they cannot.

"Of course, you always hope your kid will get married and have a nice life," Debbie Lojeski said. "But who knows?"

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© 2008, Chicago Tribune.