NF2 is a genetically determined disorder which affects one in 40,000 individuals worldwide. It is clinically distinct from NF1 and is ten times less common. Individuals with NF2 will not develop NF1, and those people born with NF1 will not progress to NF2.
One of the frustrating aspects of NF2 is its variation from individual to individual. In this regard, the medical problems and the time course of NF2 may be different, even in members of the same family..
In general, most individuals with NF2 experience their first symptoms during the late teenage years or in their early 20’s. A few people develop symptoms in childhood and some do not have problems until their 40’s or 50’s..
Affected individuals develop many nervous system tumors that may require treatment. Since the tumors grow slowly, they may be present for many years before causing symptoms. For that reason, NF2 should be evaluated at least annually for tumors, hearing and cataract formation. The optimal and recommended approach involves evaluation by a multidisciplinary team of specialists who can provide a diverse and expanded-level of expertise on this condition.

Opening Reception for “Unwavering Truth: Archive Of Our Own”

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Unwavering Truth: Archive of Our Own (Queens Museum, November 15 2014, 2-5pm) seeks to present an honest look at people with Neurofibromatosis Type 2 (NF2). The exhibit presents works of art by artists with NF2 or artwork related to NF2, meant to depict the emotional truth underlying the thought processes of someone with NF2, while demonstrating that there is more to the artist than just the disorder.

Gaston Christian student continues to excel despite hearing loss

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The Gaston Christian School eighth-grader is full of life, with a sense of humor and an animated personality that can instantly brighten the days of those she encounters. It’s hard to believe that just six months ago Holly was starting to deal with her biggest challenge yet: losing all but 10 percent of her hearing. At age 5, Holly was diagnosed with neurofibromatosis type 2, a rare disorder that affects about one in 25,000 people, according to John Hopkins Medicine.

‘Open science’ could open doors for pharma

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When Johnson & Johnson agreed to make its clinical trial data available to outside parties through the Yale School of Medicine, proponents billed it as a victory for transparency in drug research. Those same advocates of so-called “open science” hope it will encourage more pharma companies to do the same.

NF2 Genetic disorder afflicts large Clinton family

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Francis Barrette died in 1990 of throat cancer, some 21 years before a devastating diagnosis came to light of an illness that affects 11 members of his extended family ranging in age from 3 to 52 years old. So far, that includes three of his children, as well as some of his grandchildren, great-grandchildren and great-great grandchildren. The disease is called neurofibromatosis type 2, or NF2, a genetic disorder known for uncontrolled growth of non-cancerous tumors in a person's nervous system.

Are we helping people with disabilities the right way?

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Not too long ago, I worked with an artist, Kristina Diaz, on "Unwavering Truth: Archive of Our Own", an exhibition she was putting together at the Queens Museum in New York. Diaz, who lives with a genetic disorder called Neurofibromatosis Type 2 or NF2 approached me - as she wanted to include the poems of a Malaysian NF2er, my late partner Keisha Petrus.

$15 Million for Neurofibromatosis Research!

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On December 9, 2014, House appropriators released the text of an omnibus appropriations bill for fiscal 2015 that provides complete funding for 11 annual appropriations bills through Sept. 30, 2015. The Defense portion of the bill included $15 million for the Army’s Neurofibromatosis Research Program.

(Abstract) Evidence of polyclonality in neurofibromatosis type 2–associated multilobulated vestibular schwannomas

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Neurofibromatosis type 2 (NF2) is a tumor syndrome that results from mutation of the NF2 tumor suppressor gene. The hallmark of NF2 is the presence of bilateral vestibular schwannoma (VS). Though NF2-associated and sporadic VS share identical histopathologic findings and cytogenetic alterations, NF2-associated VS often appears multilobulated, is less responsive to radiosurgery, and has worse surgical outcomes. Temporal bone autopsy specimens and MRI of the inner ear performed on NF2 patients suggest that multiple discrete tumors may be present within the labyrinth and cerebellopontine angle.

Northwestern Medicine Surgeons Using New Adaptive Hybrid Technology

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Radiosurgery-guided procedure could offer hope for patients with benign and cancerous brain tumors. It started with numbness on the left side of his face. A few months later, Steve Mores couldn’t feel his tongue or chew on the left side of his mouth. TV commercials featuring food or even being in a grocery store made him nauseous. Northwestern Medicine neurosurgeons are spearheading new adaptive hybrid surgery technology to help patients like Mores. Participating in a phase 1 research study, Mores was one of the first subjects in the United States to have a brain tumor removed using this technology that integrates a radiosurgery plan into surgery.

An Interview with Dominique Lallemand

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The Asociación Mundial de Afectados de Neurofibromatosis 2 (AMANDOS) hosted a Q and A session with Dominique Lallemand, a scientist working on NF2, through Twitter. In this compilation of questions and answers, Dominique Lallemand clarifies and develops the processes of persistent concern among the affected: how can research be carried out and processed into treatment.

(Abstract) The effect of bevacizumab on vestibular schwannoma tumour size and hearing in patients with neurofibromatosis type 2

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Research Highlight: Vascular endothelial growth factor (VEGF) expression level in NF2 correlates with tumour growth rate and bevacizumab, a VEGF-binding antibody, has previously been shown to induce tumour shrinkage and improve hearing. We retrospectively reviewed the effect of bevacizumab on hearing and VS tumour size in 12 consecutive NF2 patients.

Suffolk volunteer with genetic condition gets award

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A young volunteer who founded a support group for people affected by a rare genetic disorder has been given a high profile award. Jessica Cook, 24, from Stowmarket, was born with NF2 – Neurofibromatosis Type 2 – an incurable condition that affects one in 35,000 people and causes tumours to grow throughout the nervous system, most commonly seen in the brain and spine.

Charity Christmas Single

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A Christmas single has been released to raise money and awareness for Crowborough based charity Taylor-Made Dreams. The charity was founded by the mother of a Crowborough teenager Taylor Mitchell, who died of a rare nerve disorder in September 2011, aged just 15. Taylor was diagnosed with Neurofibromatosis Type 2, which caused tumours to form in his brain and spine. After the death of her son, Suzi Mitchell founded Taylor Made Dreams to help other terminally-ill youngsters complete their “bucket list”.

UPDATE: NF Clinical Trials – Spring 2015

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  Check out the NF Clinical Trials section of our website, which was recently updated to include current NF-related trials from clinicaltrials.gov. Some new studies that have been added are: NF1 Clinical Trials: Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis 1 CRAD001CUS232T … Continue reading

The post UPDATE: NF Clinical Trials – Spring 2015 appeared first on Neurofibromatosis Center.

Washington University NF Center Patient Attends Grand Rounds

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  David H. Gutmann, MD, PhD, Director of the Washington University Neurofibromatosis (NF) Center, presented at Neurology Grand Rounds last Friday. During his seminar, he outlined the barriers to the effective management of children with NF1-associated brain tumors. Dr. Gutmann … Continue reading

The post Washington University NF Center Patient Attends Grand Rounds appeared first on Neurofibromatosis Center.

Consider cephalosporin

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HOUSTON– Given the low incidence of adverse drug reactions to cephalosporin antibiotics among nearly a million California health plan patients, pati

Doctors have been

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Doctors have been conjecturing about how the new Apple Watch, with its spectacular fitness and wellness tracking features, will transform health care.

Presenter - Dr. Brad Welling

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Introduction

Phyllis:

First of all, thank you so much for coming. We come from California, Texas, Utah, New York, Georgia. I am not going to name them all. It would take too long. Thank you for the sacrifices you made to be here, to be away from your families, the financial sacrifices. We appreciate all that. But it's a special time, and it's a special place that we are all here. You don't have to worry about, "I can't hear" or "I stumble." I fell almost twice this weekend myself. But before we start, I want to thank some people for coming. Number one, Dr. Welling. I am going to say a few personal things. He is a great man! He is dedicated to the NF2. He does drug research. He wants our lives to be better. He cares about the quality of our lives. He is a patient- oriented physician.

I will tell one story that will prove this point a million times over. I had brain surgery in January. About a month later, I developed spinal fluid. Steve called Dr. Welling. To make a long story short, Dr. Welling, he was in Phoenix at the time. They actually admitted me to the hospital. And that afternoon, Dr. Welling walks in my room. He got off the airplane, came straight to Ohio State Hospital to see me. He didn't even go home. I know some of you are patients of Dr. Welling. We all have our own stories to tell about what a great physician he is, and caring wonderful man. t's a privilege and honor that he takes care of us the way he does. Thank you so much.

Next is Andrea Crago. She is from PRI, Professional Reporters, Inc. She makes this possible for us. We all would be staring at each other, making funny faces. She brings the world of speech, so we can take advantage of the great things we will "hear" this morning.

Dr. Welling, he got back at 1 a.m. this morning from Europe. He is with us here this morning. We appreciate that. I want to thank the volunteers that helped out this weekend. It's a big event. I couldn't have done this without this person taking over and that person taking over. Thank you for all your help.

Rachelle Swafford's Memorial

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Gladys Bell:

Good morning, everyone. I have never used C.A.R.T., so I am a little nervous about that. But we are here this morning for a memorial for our crew member, Rachelle Swafford. Her love of the Crew is filling this room. As well as her understanding and her appreciation of the importance of what the Crew does. The fact that we reaped strength and Encouragement. Her love is in testimony by the presence of her family here today.

You know, we have many new Crew members here. It's marvelous to see this group! We become quickly attached in this group, for those of you who are new, because when you start any relationship, you start conversation by common ground. You find what you have in common and you begin conversation, and you become truthful with one another. That deepens your relationship.

We can never say to any member of this family, Deb, Ray, Danielle, or Bryan, that we understand how they feel. No one can ever understand how one individual feels in loss. But if there is one thing that everyone in this room has in common, we understand loss. All kinds of losses. Not just life, but abilities, socialization, possessions, friends. So we in this room have a lot in common.

There's a question that's asked many times: Is your glass half empty or half full?

Facial Nerve Damage

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Based on my knowledge and experience as someone with NF2 who has dealt with facial paralysis after the facial nerve issues during brain surgery, doesn't show any signs of healing or movement till about 4 to 6 months after the damage occurs, where everyone is different it could be longer or shorter then that but a good gauge on about what to expect and the majority of the healing that will occur will be in the first year. A few things can be a factor in how much heals.

  • Physical Therapy, Exercise
  • Acupuncture
  • Food, Suppliments and Medication
  • Facial Animation Surgery

The facial nerve feeds smaller nerves and muscles that go to different parts of the face. When the nerve is damaged those smaller veins are not sent enough blood for the circulation which is necessary for muscles to move.

A good amount of facial paralysis can heal between physical therapy and acupuncture. In physical therapy they show you face exercises to regain movement again, I suggest chewing gum a lot as part of that and starting acupuncture as circulation starts back up again. Acupuncture helps to encourage blood to flow back to the different nerves in the face to encourage movement. Starting both within a few months after a nerve is damaged and for that entire first year is important in determining how much it will be able to help.

Some amount of nerve damage can heal after the first year, but the majority of the healing will happen in the first year. I believe food and medication choices could play a part in the percentage of healing as well. Antioxidants help encourage blood flow by helping to send more oxygen to veins while some medications that are meant to slow down cell growth could also be a factor against healing. So in effect, some chemotherapy options, supplements or foods even that might slow down cell growth in my opinion should be held off for as long as possible after surgery to give yourself enough time to heal, but you need to do what's right for you.

Facial animation is typically not a consideration till sometime after the nerve is damaged based on how much your nerves heal on their own. Talk to your doctors.

- Lori Davila
October 14, 2010

UdiDuo System

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Product Review - 7-12-10

I recently had an opportunity to try out the UdiDuo System, made available by the interpreter services at NYU. I highly recommend anyone with hearing issues to try out one of these devices to determine how it might be useful to you.

- Lori Davila

Uses

This neat system is a great assistance aid for one on one communications for anyone with hearing issues including :

  • individuals who are new deaf and do not know any other form of communication.
  • a hearing person needs to communicate with someone who is deaf and does not know ASL (American Sign Language), or is too difficult to speech read.
  • individuals who are learning ASL. This would work well as a good instructional tool to type a word and then sign it and have added dialogue by typing as needed.
  • if you need to have a discussion with someone who does not know ASL or someone who cannot sign very well.
  • if you need to have a conversation with someone that includes to many technical words that would require the major part of the conversation too be mostly finger spelling if ASL were used.
  • doctor's visits where a hearing impaired person needs to understand exactly what a medical professional is saying, word for word.
  • a discussion with someone with speech problems.

UdiDuo Description

Two connected computers, each facing opposite directions. As the person you are communicating with types you can read it on the screen as well as see them and in turn type back a response that will show up on their display. No internet access needed. This device would not only be good for doctor's visits but in communicating with others with hearing problems or speech problems who you might need to talk to.

ASL or lip reading alone will not help in every situation and sometimes you might need more than either in cases like a doctor's visit, or even a work environment, where you need to understand exactly what someone is saying, which is where devices like this can help.

Link - www.scomm.com

Neurofibromatosis Type 2 (NF2)

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Neurofibromatosis Type II (NF2), is also known by the name "MISME Syndrome" (Multiple Inherited Schwannomas, Meningiomas and Ependymomas), or Bilateral Acoustic NF (BAN), is a genetic Autosomal Dominant condition. It is an Autosomal Dominant, genetic condition that affects an individual throughout the course of their life. The missing gene that results in NF2, the tumor suppressor gene, should create a protein known as MERLIN (Moesin-Ezrin-Radixin-Like Protein), also referred to as Schwannomin or Bilateral Acoustic NF (BAN). When the Merlin Protein is missing, tumor development occurs.

NF2 results in slow growing typically benign (noncancerous) tumors, primarily in the Central Nerve System; these are nerves in the brain and alone the spinal cord. These tumors result in different forms of nerve damage depending on actual location of each tumor that grows. Despite development of earlier issues that might develop, signs of hearing loss are usually the typical point of NF2 diagnosis for many individuals. Additionally, while Central Nerve System tumors can damage the different nerves for vision, NF2 commonly also results in eye issues unrelated to tumor nerve damage.

NF2 - NYU Doctors and Resources

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NYU is the only hospital in the metropolitan area offering a complete team of doctors experienced with and focused on NF2. It is one of the very few such places in the country. For that reason, our group members tend to favor NYU doctors.

However, there are some excellent doctors unaffiliated with NYU who deal with various aspects of NF2.

Dr. Roland - 2010 Wholeness of Life Award

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Dr. Roland to Receive 2010 Wholeness of Life Award at Ceremony on October 28

J. Thomas Roland Jr., MD, is this year's recipient of the Wholeness of Life Award from HealthCare Chaplaincy, a nonprofit organization that specializes in multifaith, spiritually centered healthcare. Every year, HealthCare Chaplaincy, in coordination with the Department of Pastoral Care, honors a select number of healthcare professionals in metropolitan New York who embody the chaplaincy's commitment to care for the whole person, encompassing spirit, body, and mind. The honorees have all earned a reputation among their colleagues for caring holistically for patients and co-workers by showing respect for the dignity of people, demonstrating a commitment to excellence and caring, and exhibiting compassion and understanding of the spiritual needs of individuals regardless of cultural and religious differences.

Dr. Roland, who is the Mendik Foundation Associate Professor of Otolaryngology, chair of the Department of Otolaryngology, and associate professor of neurosurgery, is a pioneer and expert in cochlear implants. In addition to serving as the co-director of our Cochlear Implant Center, he has also brought his expertise and services to those in need in Uganda-performing surgery and training others to perform various types of ear surgeries.

He was nominated for this award by several colleagues, including Maria Corbo, the former director of international and corporate services, John Golfinos, MD, chair of the Department of Neurosurgery, and Susan Waltzman, PhD, professor of otolaryngology and co-director of the Cochlear Implant Center, with support from an international patient.

What Is NF2?

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Neurofibromatosis Type II (NF2) is a genetic neurological disorder that causes benign tumors to grow within the central nervous system and the peripheral nervous system. NF2 is characterized by bilateral vestibular schwannomas (acoustic neuromas). The majority of NF2 patients (approximately 90%) develop bilateral vestibular schwannomas.

Observation (Watch and Wait)

Patients who are asymptomatic may not need treatment immediately. Patients should undergo periodic MRI scans so that doctors can monitor the growth of the tumors. Doctors will determine how often a patient will need to undergo an MRI. Doctors will advise patients as to when treatment will be necessary as well as which types of treatment would be appropriate for a particular case.

Types of tumors which commonly develop in NF-2 patients:

  • Schwannomas
  • Meningiomas
  • Ependymomas

What causes NF2?

NF2 Medical Choices

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Surgery for Tumor Removal

Three common surgical approaches are used to remove acoustic neuromas: Middle fossa approach, Retrosigmoid approach and Translabyrinthine approach. Several factors determine which approach the surgeons will use for a particular patient.

Gamma Knife Surgery

Also known as Stereotactic Radiosurgery.

Hearing Implants

CI (Cochlear Implant): In some cases, a patients auditory nerve will still be intact after an acoustic neuroma is removed and the nerve may be functioning well enough for a patient to benefit from a CI.

ABI (Auditory Brainstem Implant): The majority of NF2 patients use an ABI. In many cases during surgery to remove acoustic neuromas, the auditory nerve is severed or not functioning well enough for a patient to benefit from a cochlear implant.

Medication to Stop or Shrink Tumors

A few medications are in trials that we have hope will stop this condition. Progress is being made. Speak to your doctor.