Some with neurofibromatosis live in ‘fear of being stigmatized’

If you ever saw the movie, “The Elephant Man,” you have an idea of the stigma that people who have severe neurofibromatosis live with every day.

Although the man the film was based on later discovered he had a different disease, people with serious cases of the tumor-causing disease neurofibromatosis often hide themselves from the public like the man in the movie, said a medical expert in the field.

“I think people who have it don’t tell people about it because of the fear of being stigmatized,” said Dr. Kaleb Yohay, a specialist in child neurology with the Weill-Cornell Medical College, New York- Presbyterian Hospital.

“That’s the image [from the movie] that’s associated with it,” he said.

For just about every person diagnosed with neurofibromatosis, dermal tumors, or the growths that appear on top of the skin, will be a part of their symptoms.

Most of the tumors will remain benign for the better part of their lives, although the tumors will continue to grow, Yohay said. The extent to how that affects the patients is hard to predict, based on how many tumors they get and how much the tumors bother them, he said.

“It’s sort of a subjective feeling,” he said. “Everyone has different feelings about that. What is disfiguring for one is acceptable for another. For some people, three tumors are disfiguring, but for another, three is acceptable.”

When Erin Borzellino asked Yohay what she could do to help her son and others fight back against neurofibromatosis, Yohay suggested a nonprofit foundation to help raise money for research to find a cure for the dermal tumors.

“They’re not dangerous, but they affect peoples’ lives very significantly, with people coming up to you all through your life asking you, ‘What’s all over your face?’ ” Yohay said. “And this is something that doesn’t ever go away and usually gets worse.”

He said there is no other foundation is existence like the Giorgio Foundation that Borzellino and her parents, Ben and Cathy Stapelfeld, have created. He said there is some ongoing research looking into a possible connection between the disease and its relation to hormones in the body because the disease appears to get worse in women during pregnancy.

“There is a very poor understanding of how this develops and what triggers it,” he said.

Research might someday include drug trials that may lead to a cure or at least a way to alleviate some symptoms, Yohay said.

“There is so much we don’t understand about this disease,” he said.

To donate to the foundation, send contributions to the Giorgio Foundation, P.O. Box 598, Hastings, Pa., 16646-0598.