Neurofibromatosis: Battle against nerves

Jeannine Lancaster holds a photo of herself as a teen. A decade later, her spots began multiplying. (Sun photo by Glenn Fawcett / July 22, 2008)

As a teenager, Jeannine Lancaster started to see spots like mosquito bites on her arms and back. She didn't think much of them then. A decade later, the bumps started to multiply on her face.

The bumps are neurofibromas, or tumors, which have severely disfigured her appearance over the past 18 years. Now, at age 43, Lancaster can't escape the pointing and staring when she goes out of her home. In these situations, she smiles and hands strangers a card:

"If you're curious, I have neurofibromatosis."

Commonly known as NF, the genetic disorder produces benign tumors within and around nerves. The tumors, which can be throughout the body, squeeze the nerves and interrupt signaling in the nervous system. Some people may not show visible bumps but instead suffer from internal effects. Learning disabilities or bone deformities may result through mechanisms not yet understood.

Megan Leaf, a special-education aide in Baltimore's public schools, doesn't suffer any physical disfigurement. For most of her life, she has had learning disabilities and problems with her vision and coordination.

"I don't look like as if anything is different with me, but I might have trouble saying or seeing something," said Leaf, 27. In elementary school, she had trouble seeing the blackboard and needed the help of a paraprofessional to copy notes.

Doctors say the variability of symptoms makes NF difficult to diagnose.

"NF is a common genetic condition, which is underrecognized by both physicians and the public," said Dr. Jaishri Blakeley, director of the Comprehensive Neurofibromatosis Center at Johns Hopkins Hospital. "All those patients don't have a voice and often feel very self-conscious and misunderstood."

Lancaster and Leaf are among an estimated 100,000 Americans with NF, which occurs in one out of 3,000 individuals. According to the Children's Tumor Foundation, an advocacy group, this makes the condition more prevalent than cystic fibrosis, hereditary muscular dystrophy, Huntington's disease and Tay-Sachs disease combined.

There is no cure for any of the three subtypes of NF. But surgeons can remove tumors when they become painful or threaten normal bodily functions, such as vision and movement. In rare cases, tumors may become malignant and are treated as other cancers would be, with radiation or chemotherapy.

Lancaster underwent separate surgeries to remove tumors on her lung and neck, which were encroaching on her spine and becoming painful. But the operations have left her in more pain, she says.

"I sometimes feel electricity shooting down my body ... just completely unexpected," Lancaster said. "It lasts for seconds and then goes away."

Even so, Lancaster struggles more with the psychological and social aspects of NF.

"I can't deal with most people ... the rudeness people have; the outright pointing, staring, screwed up face while looking at me," said Lancaster, a retired State Department employee who lives in Suitland. "When I go out, I need to have my guard on. I'm ready for a comment or a look, and that's why I have my cards."

Most people are unfamiliar with NF, she says, and they often ask if the bumps are mosquito bites. But from time to time, she hears grossly offensive comments.

"On Halloween, a kid asked me if I had a mask on," Lancaster said. "And that really hurt my feelings."

To improve her appearance, dermatologists removed several tumors from her face in 2006. But they just grew back, Lancaster said.

Doctors usually discourage surgery for cosmetic reasons.

"It's not recommended procedure because there are just too many to remove," Blakeley said. "And it may not be worth the risk of sensory and nerve damage."

Doctors are trying to understand the symptoms and genetics of NF and the disorder's implications on a patient's life.

Related topic galleries: College of Notre Dame, Government, Halloween, Surgery, Health Treatments, Johns Hopkins Hospital, Charles Village

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