Triumph of the Spirit: Patients Battle Neurofibromatosis

"I'm so used to these surgeries that I pretty much go along," said Ana Rodarte during a break from school. "I've had so many I don't remember."

Rodarte, a 28-year-old woman from southern California, had gotten used to doctors disappointing her. She was born with neurofibromatosis, a rare genetic condition that caused large, disfiguring tumors to grow on her face, covering most of the left side.

Neurofibromatosis, in its most common form (Type 1) is believed to affect about one in 3,000 people, or 100,000 Americans, according to the Children's Tumor Foundation in New York.

It causes tumors to form along nerve pathways, sometimes causing light brown spots on the skin, or raised bumps and skeletal abnormalities. About half of all children with NF also have learning problems, probably because the nerve pathways in the brain become overactive, just as they do elsewhere in the body.

"The worst thing about it is its unpredictability," said Dr. Kim Hunter-Schaedle, the chief scientific officer at the Children's Tumor Foundation.

In rare cases, (known as Type 2) internal tumors along nerve pathways can threaten a patient's eyesight or the nerves that regulate hearing. NF can also increase a person's chances of getting cancer by about 10 percent.

A Disorder That is Cruel to Children

Most often, the disorder appears in early childhood. It has already been a major force in the lives of Jill and Rodney Markland and their son, Jesse, who is now 4.

"My little buddy's been the brave one," Jill Markland said. She says Jesse has small tumors all over his torso, and one as well behind one eye.

Neurofibromatosis is not painful to most patients, but it is to Jesse. He began to suffer as a toddler from pain in the back of his head, and doctors have not been able to pinpoint the cause.

"I couldn't pull a shirt over his head, I couldn't shampoo his hair -- that's the kind of pain he was in," Markland said.

Jesse gets pain medication three times a day.

Neurofibromatosis: Courage Against the Odds

His parents have fought back against the disease by raising close to $100,000 for research, part of which came from a poem Jill Markland wrote in her son's honor.

"Each night is the same that I pray / A treatment will be found / There will come a day," it concludes. (The complete text is HERE.)

After the poem appeared in a local newspaper, Jill Markland says a man walked into the police station where her husband works, saying he wanted to make a donation. Then he began to lay out $100 bills on the counter.

The Marklands will want to thank you, the officer on duty said.

"No questions," said the man.

Frontiers of Research

Though research is going on around the world, there is, for now, no cure other than plastic surgery for patients who develop tumors on their skin. Several medications are being studied in the hope that they will minimize the effects of neurofibromatosis.

"It's a progressive disorder," said Dr. Bruce Korf of the University of Alabama. "By and large, management of it is limited to watching it."

It is more common than muscular dystrophy, cystic fibrosis and many other better-known disorders.

"I think of it as common among the rare conditions," Korf said.

In most cases, the effects of the disorder are much less visible than they were for Ana Rodarte. Surgeries during her childhood had made little difference; the tumors only grew back.

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