The Mean Gene: Meet NF1, the most common disorder you've probably never heard of

Slideshow: Kids with NF1 and their families at "Club NF"

The Mean Gene: Meet NF1, the most common disorder you've probably never heard of
Jennifer Silverberg
Lexi and Cam and his brother Braydon show off their dance moves at a Club NF session in November. Lexi and Cam have NF1; Braydon does not, but the doctors are watching him closely.

Go here for a gallery of photos from a recent Club NF gathering.

Like a lot of nineteen-year-olds, Gina Garbo is uncomfortable lounging on the beach in a bathing suit. The main problem is the long brown spot on her left thigh. There are other spots, too, on her legs and belly, but that's the biggest one. It looks like a really odd birthmark. It's not.

Garbo, who grew up in Chesterfield and is a sophomore at Rockhurst University in Kansas City, doesn't drink much, either, not out of moral scruples or a general worry about the dangers of alcohol, but because of a more particular concern for her liver and kidneys. She had a brain tumor when she was twelve, which necessitated nine months of chemotherapy, and she's not sure about the long-term effects of the drugs. To this day she doesn't like to talk about the tumor, about the year she lost her hair and missed a day or two of school every week because she had to go for treatment at St. Louis Children's Hospital.

Now Garbo looks like an ordinary college student. Her hair grew back, long and black, and as long as she's not poolside it's easy to cover up the discolored patches of skin. She tries to see the benefits of having had a brain tumor: a college scholarship from the Pediatric Brain Tumor Foundation, the friends she made at Camp Rainbow, a cancer camp she considers the most wonderful place on the planet.

Dr. David Gutmann in the lab. He has been studying NF1 for more than twenty years. Slideshow: Kids with NF1 and their families at "Club NF"
Jennifer Silverberg
Dr. David Gutmann in the lab. He has been studying NF1 for more than twenty years. Slideshow: Kids with NF1 and their families at "Club NF"

"This has made me a better person," she says firmly. "If I'm having a really rough day, I think: 'OK, I've been through chemo. It can't get much worse.'"

Like all of us, Garbo doesn't know what health problems she'll face as she grows older. But the spots on her skin and the tumor and the recent difficulties she's had seeing while driving at night are a road map of sorts. They're effects of neurofibromatosis 1, also known as NF1, a genetic disorder that is, in the words of Garbo's doctor, Washington University neuroscientist David Gutmann, "one of the most common disorders most people have never heard of."

One in three thousand people has NF1. (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 people develop the café au lait-colored spots, dismiss them as birthmarks and live out their lives without ever hearing of NF1. 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.

"There are so many potential things with NF," says Gina's mother, Terri Garbo. "It was hard to know what to tell Gina when she was younger, how much information is enough or too much. She can spend a lot of time worrying about things that can come to pass. It's better to move forward."


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 1862, 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 1890 — 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 1980s, 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.

"It's pretty devastating if you've seen the movie," says the girl's mother, Marie Gavrielson.

"Dr. Gutmann alleviated that," Gavrielson continues. "He said, 'We'll see. We're not sure. It presents differently [in different people].' Anna's a normal child. She just has funky bumps." ("They only hurt when I get hit," Anna, who is now twelve, hastens to add. "I have to be more careful when I'm playing. 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.

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6 comments
mlmoyer55
mlmoyer55

Excellent article overall, most comprehensive real-world account of living with NF-1 I've seen. Thank you.

pam_hudson07
pam_hudson07

I found this article and research to be positive and hopeful.  Unfortunately, I am unable to share in this hope as I am presently watching a family member suffer with this condition without proper medical care. He underwent surgery while in grade school to remove tumors, and was given the diagnosis at that point.  Unfortunately, during that time, there was no discussion of ongoing treatment, neurological conditions, possible limitations, etc.  He currently has tumors on his back, lower adomen, and near his groin area which covers a lot of his body surface area considering he is over 30, but has the small frame of a 14-16 year old adolescent.  Without access to care, he self medicates, and his family has been unable to convince him to seek treatment due to financial limitations.  As I continue to search the WWW for methods to assist him, I would like to encourage all the parents with a child with this diagnosis to take advantage of all of the options that you receive regarding education, treatment, and DOCUMENTATION.  Unless this common disorder that no one has heard of is studied and documented more consistently, the symptoms (especially neurological) and affects on daily living will be considered unrelated as your 'seemingly normal' children are expected to become productive adults in society. 

jrisner
jrisner

Anon is correct and hopefully the author will update what is overall a very good article.  One of the challenges of NF1 is it's variability. Thankfully NF1 does not have the early death rates of some other genetic disorders (Huntington's disease, cystic fibrosis etc.) but you can die from it.  Most cases of early mortality occur when the plexiform tumors transform into Malignant Peripheral Nerve Sheath Tumors (MPSNT).  Fortunately this occurs in only 5-10% of the cases, but it is meaningful, and there are other complications of NF1 that can impact life expectancy.  John Risner

anon
anon

"One of the few certainties of an NF1 diagnosis is that the disease won't kill you."  A disappointing and inaccurate description of NF1. MPNST, tumor infringement on vital organs, airway obstruction, blood vessel anomalies leading to aneurysm/bleeding/stroke or other complications, and complications from severe hydrocephalus are just a few of the reasons people with NF1 lose their battle.  Common? no.... But these occur in NF patients and it is dismissive to make the claim listed above.  I am saddened that this sentence was included in an otherwise good article.  

scott19674
scott19674 topcommenter

Good story, strong work guys

 
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