Keeping things in perspective
June 26, 2006

Neurofibromatosis-1 appears in about one of every 4,000 babies. The major symptoms are flat, light brown spots on the skin called cafe-au-lait spots and noncancerous tumors of the nerves. The tumors often develop just beneath the surface of the skin.

Equanimity is a quality that has flowed abundantly through Carolyn's life. The 38-year-old Pennington resident (who prefers not to share her last name) has undergone multiple surgeries - including the removal of more than 400 small tumors on her back and arms - numerous laser procedures on her face and, recently, the insertion of a lip implant. Despite her neurofibromatosis, a hereditary disorder that affects the nervous system and the skin, she says she leads "a normal life." Growing up in Lawrenceville, Carolyn says, "I had friends and I was never made fun of." Carolyn, who has an 8-year-old daughter, has a bachelor's degree in psychology from Farleigh Dickinson University and plans to work with children with disabilities. And it will take a lot more than neurofibromatosis, or NF-1, to get in the way of that goal.

NF-1, more commonly known as Elephant Man's disease, is named for Joseph Merrick, the celebrated Englishman whose tortured life inspired endless curiosity, as well as a Broadway play and film. He was mistakenly thought to have NF-1, but experts later concluded that Merrick actually had a rare disease called Proteus syndrome. NF-1 is also called Von Recklinghausen's disease and appears in about 1 out of every 4,000 babies born in the United States. It's the less severe form of the disease. The major symptoms are flat, light brown spots on the skin called cafe-au-lait spots, often present at birth, and noncancerous tumors of the nerves. The tumors, called neurofibromas, often develop just beneath the surface of the skin, producing skin growths. Tumors may affect other parts of the body, including the bones.

Many people with NF-1 also have scoliosis or curvature of the spine. In some cases, tumors affect the vital organs and can be life threatening. NF-2, also called bilateral acoustic neurofibromatosis, is a much rarer form of the disorder, occurring in about one of every 50,000 births. NF-2 is characterized by tumors in the brain, on the spinal cord and on the nerves that control hearing. The first signs of NF-2 usually appear in the teens or early 20s. Approximately half of those with NF have no family history of the disorder. Until recently, there was no treatment for NF other than surgical removal of the tumors.

However, in 1990, researchers identified the gene responsible for NF-1, which may lead to a curative treatment. "I didn't know that the disorder was genetic until I was pregnant," says the soft-spoken Carolyn, who was diagnosed at the age of 8. "They wanted me to test her for the disease, but I refused, and my daughter is beautiful."

Children of those with NF have a 50 percent chance of inheriting the disorder; tests have shown that Carolyn's daughter does not have it. Despite the inconvenience her NF has caused, Carolyn considers herself lucky. "I look at other people and realize how much worse it could be," she says. "There are many people with NF who can't walk or are bedridden because they have tumors on their spine. People can go blind and have learning disabilities."

As she was growing up, Carolyn's parents would take her to New York City every few years for surgery to remove the growths that included a large tumor on her chin. "I was never satisfied with the results until I came to Dr. El-Attar," Carolyn says. "He put more time and thought into my face. He is very talented." Ayman El-Attar, a board-certified physician and surgeon and the founder and owner of Derma Laser centers in Mercerville, performs many appearance-enhancing procedures, such as laser reduction of facial and body hair, botox treatments and mesotherapy, a nonsurgical technique for spot weight reduction. "I do a lot of procedures for people who want to look better," says El-Attar. "But, with Carolyn, I feel I have made a difference. "I want to educate the public about NF and make them understand that this is a totally noninfective condition. People with NF should have a normal life. "When Carolyn came to me initially, she had virtually no lower lip, just a huge scar. I inserted an implant to fill it out."

El-Attar considers himself an artist in addition to a surgeon and takes his time with each patient. "This work is like sculpture," he says. Carolyn reports feeling much more confident with her new lower lip. "Prior to the procedure, if I walked into a room, I wouldn't make eye contact with people. Now I feel a whole lot better," she says.

Although Carolyn has already had more than 400 growths removed from her upper body, she has many more on her lower body, which El-Attar intends to remove. Cosmetic procedures such as the ones Carolyn has undergone are extremely costly and often are not covered by insurance. "A lot of insurance companies consider these reconstructive procedures to be nonreimbursable, " El-Attar says. "I have seen patients who simply can't afford this." Carolyn says many of the surgeries that she has undergone were not covered by her parent's health insurance and they simply paid for them out of pocket.

She seems to take the huge costs for these procedures in stride, much the same way she approaches her NF. Her optimistic nature is not the only thing that keeps her going. "Sometimes, when my daughter senses that I am not feeling self-assured, she'll look at me and say, 'Mommy, you're so pretty,' " says a beaming Carolyn. For more information about neurofibromatosis, look online (www.nfinc.org).