The parents applaud.


Gutmann takes a hands-off approach to Club NF. "Other people come up with these things," he says. "I just say, 'What cool things can we do?' and other people come up with them."

But things like Club NF and the iPad apps fit with his philosophy that the NF Center should treat the whole patient, not just the tumors and neurons.

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"

"If you have an ego, you need to get out of science," he says. "Most of what we do now will, in 50 years, be a footnote. I've moved the field along. None of us are in it to be the face of NF. Fifty years from now, the best I can hope for is that someone will read one of my journal articles and say, 'That was cool — for that time.' I'm OK with that. We've made small, incremental advances."

Gutmann still hopes to be able to raise the disease's public profile.

"In the Jerry Lewis telethon, you have the kid who can't walk," he explains. "It's easy to tug at the heartstrings and get people to write a check. With NF you have relatively normal kids with issues, or something really difficult to look at, like the adult with thousands of neurofibromas. Then you cross the line of empathy. It's a tough line to walk. You don't want to scare people off. NF1 patients are normal people with unpredictable lives."

Gutmann hasn't had much trouble, though, winning grants to fund his work in the lab. His latest project, funded by the James S. McDonnell Foundation, is to map the ecosystem of a mouse brain tumor. Like a diagram of an ecological ecosystem, the map will account for every single cell, protein, system and neurological pathway and how all the pieces work together.

"We want to take the system apart and see what makes it possible for it to function," he says. "No one has ever tried anything like this before."

Like Gutmann's previous collaborations, the project will involve researchers from disciplines throughout the university and beyond, from neurologists to mathematicians to radiologists to technicians who've developed microscopes to examine the individual cells. "It'll take us a year of quality first dates before we're all able to talk the same language," he says.

He's not sure if this map will be the one true guide to understanding the more puzzling aspects of NF1 that still elude him. In the meantime, he'll still be seeing patients and continuing his lab and clinical research.

"I'm fortunate to be able to do what I'm doing," he says. "People gripe about the changes in medical practice, the NIH's shrinking budget. I'm lucky. I have an opportunity every day to take care of individuals whose conditions I understand well. Then I get to unravel more of the mystery in the lab. I have a fantastic group of people in the NF Center to talk with. I can see what the future might look like. It's exciting to be part of that, exhilarating and fun."

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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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