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. U. in the fall of 1993 and set up a lab and a clinic to see patients — among them Gina Garbo, who was first brought in when she was two months old.

He was, by his own admission, a great success. He published papers, drew patients from across the country and, within nine years, had an endowed chair at the university. It wasn't enough.

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.

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"

"You're not just a gall bladder or lungs," Gutmann says. "You're an entire system. 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. It's not in one pot anymore."

In a sense, Gutmann realized, he had to be like the NF1 gene: tapping into every system the disease touched. So he began knocking on doors. In a single year, he estimates, he talked to between 60 and 80 people. "It was a long first date," he quips. 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.

Wash. U. has long encouraged that kind of pooling of resources between doctors and scientists in different disciplines; it's one of the factors that attracted Gutmann to the university in the first place and why he says he will never leave. But he was also after more than just swapping mice and machines.

"I'd like to create what I call an intellectual biosphere," he explains. "It's commonplace to think about a problem. 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. "In a different world," he jokes, "David would have been a union organizer. 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.

The gene also behaves differently in everyone who has it, even within a single family.

Take the Crums. For more than 100 years, café au lait spots were so commonplace that the family referred to them as "Crum spots." When Daniel Crum was born with his own Crum spots, his parents Dan and Elizabeth didn't think it was a big deal.

"Then the doctor said, 'I'm sorry, Mrs. Crum, it's a very big deal,'" Elizabeth Crum recalls. "We were like, 'What?' It was devastating for our family."

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.

« Previous Page
Next Page »
My Voice Nation Help

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


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. 


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


"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 topcommenter

Good story, strong work guys

St. Louis Concert Tickets