Triumph of the Spirit: Patients Battle Neurofibromatosis

April 29, 2009 — -- "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.

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.