A difficult struggle for people with neurofibromatosis

Bob Bingham settles back in his leather easy chair and agrees he’s a man who’s comfortable in his own skin.

Reggie Bibbs

TORONTO — Bob Bingham settles back in his leather easy chair and agrees he’s a man who’s comfortable in his own skin.

That might come as a surprise to some, for the topography of Bingham’s skin is anything but smooth. He has hundreds of lumps and bumps ranging over his body, from a smattering on his face and neck, to tightly packed clusters on his chest and back.

Benign tumours that form in the sheath surrounding nerve tissue, they are but one possible manifestation of a little-known genetic condition called neurofibromatosis, or NF.

“If I was walking down the street, you wouldn’t notice it,” says Bingham, 72, of Toronto. “But some of our people, their faces are very badly marked, like you would see them coming from several blocks away.”

Those more severely afflicted can be covered with boil-like protrusions of various sizes that Bingham describes as looking like clumps of raspberries.

He tells the story of one woman with NF who was so distraught by people’s reactions to the myriad growths on her skin that for four decades she rarely ventured from her home.

“When she tried to try on clothes, people in the store wouldn’t let her try something on because they thought she was contagious,” Bingham says of the woman, who died recently at age 99.

“She would have to wear white gloves if she went into a store,” adds his wife Barbara, “because they didn’t want her touching the fruit. The ones on her face were very large.”

But there is nothing infectious about neurofibromatosis, which is caused by a mutated gene that can be inherited from a parent or arise spontaneously, says Ron Turley, president of NF Canada in Ottawa. About one in every 2,500 people worldwide has the incurable disorder, which affects an estimated 11,000 Canadians.

Turley says NF is not the same condition suffered by Joseph Merrick, who was dubbed the Elephant Man during the Victorian era because of his severely deformed features. His disorder was later determined to be Proteus syndrome.

But like Merrick, people disfigured by NF can suffer extreme social stigma, he says. “For some of them it’s difficult to get jobs in the public because there’s a reticence to hire them.”

There are two primary types of the disorder, caused by mutations in different genes: Bingham and his two grown children have the more common NF1, also known as von Recklinghausen disease, named for the German doctor who first described it in 1882; NF2 is rarer but can be potentially more serious, with benign tumours on the spinal cord and auditory nerve causing hearing loss and balance problems.

Dr. Jan Friedman, a medical geneticist at the University of British Columbia, says NF1 occurs more than 10 times more frequently than NF2. Roughly half of all cases are inherited (each child of an affected parent has a 50-50 chance of acquiring the mutated gene), while the rest result from a genetic alteration “that occurs in the egg or the sperm that goes to make up that particular child.”

Affected babies typically are born with or soon develop “cafe-au-lait spots” — flat areas of pigmented shin that look like latte-coloured birthmarks.

“They don’t hurt anything. After they get them they don’t really spread. They’re just there, and they’re a sign of this condition,” explains Friedman.

Over time, children may develop a range of symptoms, from potentially disfiguring skin neurofibromas to benign tumours on deeper nerve tissues.

Some neurofibromas can be removed for cosmetic reasons, although that can lead to nerve damage.

Up to 30 per cent of people with NF1 have curvature of the spine, or scoliosis, due to growths on the spinal cord.

While usually of normal intelligence, children with NF often have learning disabilities involving reading and writing, behavioural problems and difficulties with some fine motor skills.

In extremely rare cases, massive drooping tumours can virtually take over the face, jeopardizing the ability to see, eat or breathe.

Friedman says such feature-distorting tumours tend to infiltrate surrounding tissues, such as muscle, making them difficult to treat.

“There’s not a real way to take that kind of a tumour out because you have to take out so much normal tissue,” he says, adding that they may grow back.

Neurofibromas can also on rare occasions become cancerous. If located within an arm or leg, for instance, amputation may be the only life-saving solution. Some that occur in the brain, even if they remain benign, can still be fatal because of their location.

“It’s an extremely variable disease . . . In some people it is very nasty, in other people it’s not,” says Friedman.

“This variability is a part of the burden. Because if you’re a family who has a little baby who’s diagnosed with NF just because there’s some brown spots on the skin, you don’t know whether this child is going to have a fairly mild case or may develop some of these pretty horrible complications.”

NF’s uncertainty is one thing that gnaws at Cathy Gordon of Calgary, whose son Reid, 7, and daughter Taylor, 12, both inherited the condition from her side of the family.

“Physically I’m not overly affected, I’ve got a few bumps, mostly from my neck down,” says Gordon, who recalls struggling somewhat in school, as both her kids do now.

The children both have several cafe-au-lait spots, but Taylor also has a large neurofibroma on one eyelid, which she’s had surgically debulked four times because it was affecting her vision.

“My daughter, people stare at her quite a bit,” says Gordon, her voice catching with emotion. “She’s got a really good group of friends who protect her and know what’s going on, but people question her and they might make fun of her.”

“I don’t care if people stare at me. I’m married, I’m happy, it doesn’t matter. But for her, you do want to protect her as much as you can.”

She hopes raising NF awareness can help her children and others with the disorder grow up without the often cruel discrimination and maltreatment that can be rife in a society obsessed with physical appearance.

“I worry about it every day because we don’t know, we don’t know what’s going to happen, because NF is just completely unpredictable . . . They’re fine now, but in two years they could have fibromas and be covered from head to toe.”

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