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.

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.

She retreated into seclusion, living off disability payments and communicating with the world by e-mail.

But then a retired nurse befriended her, and urged her to go see Dr. Munish Batra, a plastic surgeon who had assembled a small team of colleagues to help patients in need. They call themselves DOCS -- Doctors Offering Charitable Services -- and for the last four years they have slowly been repairing Ana's face, all for free.

'A Very Strong Girl'

"With the techniques I'm using, I should be able to get rid of 90 percent of her deformity," Batra said.

So far he and his colleagues have operated on Ana four times, and expect to do two or three more surgeries.

A phone conversation with Ana can be fast-paced. She answers a question about neurofibromatosis before a reporter is finished asking it. She says she is determined not to let the disease define her.

Neurofibromatosis: Courage Against the Odds

"I don't really pay attention to people. I've stopped caring what they think of me," she said.

Batra says he understands.

"I think this is a very strong girl," he said, "who doesn't want to have the feeling that something is wrong with her."

Giving Back

Batra came to the United States as a child from northern India, where poverty was rampant. He found success as a surgeon. His father urged him to give back to the society that had given him a comfortable life, which is why he and a fellow doctor, Michael Halls, formed DOCS.

Rodarte appeared perfectly healthy when she was born. But as the disorder spread, her parents went from doctor to doctor, trying to get her help. She had a series of operations as a child, but there was no lasting improvement.

When she first came to Batra, he says, she clearly did not expect very much.

"I made a pact with her that she had to stick with me," he said.

The team did an operation to remove some of the excess tissue that had grown. They did another to work on her jaw and reshape her nose. In another, they worked on her left eye socket, which had been damaged over the years by the tumors.

"He's great," Rodarte said. "He's more like a friend than a doctor."

She said none of the other doctors she had been to were like that.

Batra says his relationship with his patient is as important as the work he does in the operating room, especially in a long-term case such as Rodarte's.

"For the first two years I was pushing her to keep going," he said. "Now she's pushing me to do more."

Rodarte knows, she says, that there may be a lot of work ahead. The tumors caused by neurofibromatosis can be controlled by surgery, but there is, as yet, no cure for the underlying genetic disorder.

"The main hope is that we'll develop drugs, non-surgical treatments that prevent neurofibromas," or tumors, from forming, Korf said.

The Children's Tumor Foundation provides information and advice for patients and their families, as does Neurofibromatosis, Inc., a non-profit organization based outside Chicago.

"When you hear, 'No treatment, no cure,' that is unacceptable," said Jill Markland, Jesse's mother. She urges people to donate money for research.

"There's stuff going on," Hunter-Schaedle said. "There's hope."

In the meantime, Ana Rodarte says she has been able to have a relatively normal life. She recently broke up with a boyfriend. She is close to her parents, and says they never sheltered her. She is now studying to be a beautician, helping other people improve their looks.

"I have a life to worry about," she said. "I don't have time to worry about my condition."