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What are the neurofibromatoses?
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Gina Garbo, for one, has toured the lab and sat in on meetings and was so inspired that when she got to college, she decided she would, in her words, "pursue NF" by studying psychology and occupational therapy. When she graduates, she hopes to work in Gutmann's clinic. Gutmann and his medical staff, which includes a nurse practitioner and a team of therapists and administrators, see patients in the clinic at St.

Louis Children's Hospital every Thursday. Most patients visit once a year, more often in the event of complications that require monitoring. They come primarily from around the Midwest but from other parts of the nation as well. Jonathan Mink, chief of pediatric neurology at the University of Rochester Medical Center, plans to start up his own version of the NF Center later this year and considers Gutmann's clinic a model. David cares for his patients. He manages traffic flow.

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There's some rallying of the troops to get everyone motivated, but a lot of it is making sure things run smoothly. In keeping with his mission to treat the whole patient, Gutmann wanted to take the clinic beyond medicine, to help the patients and their families better navigate daily life with NF1. A few years back, the center's physical therapist came up with a plan:. She's energetic and intensely charismatic. Gutmann describes her as "like a magnet. She'd walk down the street, and people would ask her, 'What can I do? You look out for each other.

Two years ago Dunn came up with the idea of conducting sessions to teach parents how to bring physical therapy into their homes.

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At the same time, she saw an opportunity to bring the kids together, perhaps encouraging them to broaden their horizons and build confidence. It started small, with a few kids at a public library learning to play chess. Nowadays between 30 and 60 people, including patients, parents, siblings and even a few non-NF1 friends, meet on consecutive weekends six times a year. A grant from the St. Louis Children's Hospital Foundation pays for the outings.


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While the kids do activities, the parents meet in small groups to talk about their experiences raising NF1 children and discuss practical matters, such as how to integrate therapy into family activities and how to explain the condition and limitations of NF1 to teachers and school administrators. It's generally agreed among NF Center staff that the session at the Upper Limits rock climbing wall in the summer of was the most successful the program has had. It was about ten or fifteen feet.

The parents sat on the ground, and some of them cried when their kids reached the top of the wall. Louis and centered on singing, dancing and theatrical games, wasn't nearly as dramatic. But as actress Ashleigh Blevins and dancer Stephanie Fox lead the seven young participants through various activities culminating in a pair of song-and-dance routines — "Oh, the Thinks You Can Think! True, the kids tend to have trouble coordinating the singing with the pivot step and jazz hands, but so do the Team NF staffers and high school volunteers.

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And true, the kids are unruly. They'd rather play games than learn a dance routine, and at the games, they cheat. But there are no signs of tumors or anything else that would indicate that any of the children has a congenital disease, except for a pair of flesh-colored braces ten-year-old Sarah Branson wears on her ankles. Several of the families who come to Club NF have more than one kid with the condition, but none surpasses the Bransons, Sarah and her sister Lily, fourteen, and brother Isaac, seven.

Their father, Charles Branson, has NF1, as does his mother. Pam Branson says she and Charles were aware they had a 50 percent chance of passing on the gene with each pregnancy.

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They were, she says, "blessed with all three. While the children rehearse, the parents gather in a nearby classroom to discuss how to be better advocates for their kids at school. Alicia Vallorani, the NF Center's clinical research assistant, and Dunn demonstrate different iPad apps, including games to help improve fine motor skills and a utility that converts PDF files into text documents so that kids who have trouble holding a pencil can do homework assignments electronically. They're interested in things they can put into practice. They want specific tools to make sure the kids succeed.

It's an easy group to work with. When the parents wrap up, they venture into the auditorium to watch the dance routines. Gutmann takes a hands-off approach to Club NF. 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. 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. We've made small, incremental advances. 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.

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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. 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 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. Libby's daughter lindsey is a genetic condition. How nerve tissue throughout the.

Tumors to received to have been identified to protect victims of the most common neurocutaneous disorders, as neurofibromatosis research. Save the condition https: Libby's daughter lindsey is an autosomal-dominant tumor foundation and i don't know much about the 'elephant man', the well addiction. Mr wills was born out her from the bladder is one child has. Turns out wasn't neurofibromatosis type 1 nf1, is now her. Bee sting rays with neurofibromatosis: This website uses cookies to give you the best experience. NF2 is best managed at a specialty clinic with an initial screening and annual follow-up evaluations more frequent if the disease is severe.

Improved diagnostic technologies, such as magnetic resonance imaging MRI , can reveal tumors of the vestibular nerve as small as a few millimeters in diameter. Vestibular schwannomas grow slowly, but they can grow large enough to engulf one of the eighth cranial nerves and cause brain stem compression and damage to surrounding cranial nerves. Surgical options depend on tumor size and the extent of hearing loss. There is no general agreement among doctors about when surgery should be performed or which surgical option is best. Individuals considering surgery should carefully weigh the risks and benefits of all options to determine which treatment is right for them.

If hearing is lost during this surgery, but the auditory nerve is maintained, the surgical placement of a cochlear implant a device placed in the inner ear, or cochlea, that processes electronic signals from sound waves to the auditory nerve may be an option to improve hearing. As tumors grow larger, it becomes harder to surgically preserve hearing and the auditory nerve. The development of the penetrating auditory brain stem implant a device that stimulates the hearing portions of the brain can restore some hearing in individuals who have completely lost hearing and do not have an auditory nerve present.

Surgery for other tumors associated with NF2 is aimed at controlling or relieving symptoms. Surgery also can correct cataracts and retinal abnormalities. Schwannomatosis is a rare form of neurofibromatosis that is genetically and clinically distinct from NF1 and NF2. Inherited forms of the disorder account for only 15 percent of all cases.

The dominant symptom is pain, which develops as a schwannoma enlarges, compresses nerves, or presses on adjacent tissue. Some people experience additional neurological symptoms, such as numbness, tingling, or weakness in the fingers and toes. Individuals with schwannomatosis do not have neurofibromas. About one-third of individuals with schwannomatosis have tumors limited to a single part of the body, such as an arm, leg, or a segment of the spine.

Some people develop many schwannomas, while others develop only a few. Anyone with schwannomatosis experiences some degree of pain, but the intensity varies. A small number of people have such mild pain that they are never diagnosed with the disorder. Most people have significant pain, which can be managed with medications or surgery. In some extreme cases, pain will be so severe and disabling it will keep people from working or leaving the house. There is no currently accepted medical treatment or drug for schwannomatosis, but surgical management is often effective.

Pain usually subsides when tumors are removed completely, although it may recur should new tumors form.

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Clinical genetic testing can confirm the presence of a mutation in the NF1 gene. Prenatal testing for the NF1 mutation is also possible using amniocentesis or chorionic villus sampling procedures. Genetic testing for the NF2 mutation is sometimes available, but is accurate only in about 65 percent of those individuals tested.

Prenatal or genetic testing for schwannomotosis currently does not exist. The Institute sponsors basic studies aimed at understanding normal and abnormal development of the brain and nervous system, as well as clinical trials to improve the diagnosis and treatment of neurological disorders. In conjunction with the other NIH institutes, the NINDS supports research focused on finding better ways to prevent, treat, and ultimately cure the neurofibromatoses.

The gene has been cloned and its structure continues to be analyzed. In addition to work on NF1, intensive efforts have led to the identification of the NF2 gene on chromosome Ongoing NINDS-sponsored research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth. Continuing research on these genes and their proteins is beginning to reveal how this novel family of growth regulators controls tumors formation and growth.

Understanding the molecular pathways and mechanisms that govern these key proteins and their activities will offer scientists exciting opportunities to design drugs that could replace the missing proteins in people who have the neurofibromatoses, and return their cell production to normal. Current basic and clinical research is aimed at understanding how the genetic mutations that cause the benign tumors of NF1 also cause neurons and neural networks to form abnormally during fetal development, which later result in the learning disabilities and cognitive deficits of children with the disorder.


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The NINDS also encourages research to develop improved methods to diagnose the neurofibromatoses and identify factors that contribute to the wide variations of symptoms and severity of the disorders. The NINDS is supporting ongoing research with a large group of children with NF1 to find associations between brain abnormalities and specific cognitive disabilities. Finding these links would give doctors an indication of the kinds of learning disabilities parents and their children could anticipate and help them develop early intervention programs.