Not to be confused with NF2, which, despite its name, is a completely different disease. That means it's more widespread than cystic fibrosis or hereditary muscular dystrophy. It's more unpredictable than both those maladies, by a long shot, and at least as misunderstood. One of the few certainties of an NF1 diagnosis is that the disease won't kill you. Some may have Lisch nodules — tiny bumps on the surface of the eye that have no effect on vision and are easily ignored.
Others, like Garbo, develop optic-nerve tumors, which sometimes spread to the hypothalamus and cause growth problems. Still others are afflicted with neurofibromas or the larger plexiform neurofibromas, benign tumors that can cause a sharp pain if bumped or, depending upon where they're located, push soft, still-growing bones out of alignment. Some children develop heart murmurs. Then there are the invisible complications — learning disabilities and behavioral problems, lack of physical coordination and the social issues that come from being a kid who's bad at school and sports.
She can spend a lot of time worrying about things that can come to pass. It's better to move forward.
The Mean Gene: Meet NF1, the most common disorder you've probably never heard of
When David Gutmann quips that most people have never heard of NF1, he's ignoring the fact that for more than a century, the disorder was known as Elephant Man's disease. Shortly after he was born in Leicester, England, in , Joseph Merrick developed grotesque tumors all over his face and body, thought to have been caused in utero, when his mother was knocked over by a circus elephant. Before he died in — of asphyxiation from tumors blocking his airway — he made his living as a sideshow attraction. Though his story became the infamous stuff of legend, fodder for stage and screen, when researchers at the University of Michigan discovered the gene that causes NF1 in the late s, scientists began to reconsider whether Merrick actually had something else.
Gutmann, for one, is certain Merrick's affliction was a much rarer disease called Proteus syndrome. But the association stuck. As recently as eleven years ago, when Anna Gavrielson was diagnosed, a doctor told her parents she had Elephant Man's disease. Gutmann alleviated that," Gavrielson continues. It presents differently [in different people]. She just has funky bumps.
Like when we do dodgeball, I try to keep my back to the wall. Few people understand NF1's complexity better than Gutmann, who was doing his postdoctoral fellowship at Michigan when the gene was isolated. He has been studying the disorder ever since. Most of his fellow UM researchers were what Gutmann, now 53, calls "gene jockeys": Like early polar explorers, they were eager to make the discovery, plant their flag and move on.
Gutmann preferred to stick around and survey the territory. He'd trained as a neurologist and was fascinated by how mutations in genes turn into diseases. If he could figure out how the dysfunctional NF1 gene wreaked its havoc, he reasoned, he might be able to reverse the process. He arrived at Wash. He was, by his own admission, a great success.
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He published papers, drew patients from across the country and, within nine years, had an endowed chair at the university. Gutmann understood genetics, neurology and immunology, but he didn't know what made brain tumors grow or how bones develop or how to deal with learning and behavioral problems. He could consult or even refer his patients to specialists in these areas, but that did little to improve his understanding of NF1. You need to understand what the other person does.
Otherwise it's like people bringing in a car with something wrong. I can do the oil filter, and someone else can do the tires, but the problem might be something totally different. There's a lot of information out there, both clinical and research.
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It's not in one pot anymore. In a sense, Gutmann realized, he had to be like the NF1 gene: So he began knocking on doors. In a single year, he estimates, he talked to between 60 and 80 people. In the end he found six collaborators who agreed that NF1 would be a good model for their own investigations. A child with NF1 has a 20 to 30 percent chance of developing brain tumors. That statistic caught the attention of Dr. Josh Rubin, a pediatric oncologist who specializes in brain tumors. As further incentive to collaboration, Gutmann had genetically altered mice to develop the tumors and offered to share.
But he was also after more than just swapping mice and machines. If two or three people are thinking about the problem, how much better is our understanding if we do it together than if we do it alone? The university set aside a large suite on its medical campus, and nine years ago Gutmann expanded his lab and clinic into the NF Center.
Though he insists he's merely a member of the team, the space bears the imprint of its creator, right down to the preponderance of University of Michigan banners and decals Gutmann's undergrad and med school alma mater. More telling is the conference room, which is big enough to hold a dozen collaborators, and the long, narrow hallway in the lab, designed so researchers will bump into one another, literally.
Gutmann has intense dark eyes, magnified by spectacles, and a beard and mustache that are starting to turn gray. He projects an air of authority, confidence and deep seriousness, which he tries to mitigate with a self-deprecating sense of humor. Patients and parents find his presence reassuring. Pediatrician colleagues say that for a "grownup doctor," he's remarkably comfortable dealing with children, readily bending his tall, lean frame to converse with them at eye level.
Josh Rubin sees something else. He comes in, persuades you, gets you to believe what he believes and then puts you to work. The gene that causes NF1 can be inherited, or, as in the cases of both Gina Garbo and Anna Gavrielson, both of whom are the only people in their family with NF1, it can spontaneously mutate. Crum, it's a very big deal,'" Elizabeth Crum recalls. While Daniel's father has an uneventful array of spots on his chest, Daniel has a brain tumor at the top of his optic nerve, where it intersects with the pituitary gland. He is blind in his left eye, partially blind in his right and is small for his age, easily mistakable for an eighth grader rather than the high school senior he is.
Gutmann believes the NF1 gene's behavior changes depending on other genes it interacts with. It varies, even in families, because many genes are polymorphisms, passed along not as exact copies, but with variations. Faces of Neurofibromatosis Public group. Join group settings More. Jennifer Hambright-Townsend 2 hrs. Today my little girl turn 6. Ashlyn Rose 8 hrs.
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