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.

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.

Antiangiogenic agents for nonmalignant brain tumors

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Research Highlight: During treatment (range 4 to 21 months, mean 9.1) with antiangiogenic agents, two patients with an atypical meningioma and radiation necrosis had dramatic partial response, the six NF2 patients had stable or slightly improved disease, and two meningioma patients had disease progression.

CDMRP Neurofibromatosis Research Program for Fiscal Year 2014 (FY14)

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The FY14 Defense Appropriations Act provides $15 million (M) to the Department of Defense Neurofibromatosis Research Program (NFRP) to support innovative, high-impact neurofibromatosis research. This program is administered by the US Army Medical Research and Materiel Command (USAMRMC) through the Office of Congressionally Directed Medical Research Programs (CDMRP).

X-Ray Glasses Help Surgeons See Cancer

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A team of researchers from Washington University School of Medicine in St. Louis have developed a pair of high-tech glasses that could help surgeons visualize cancer cells. The glasses contain custom video technology, a head-mounted display and targeted molecular agent that binds to cancer cells. When viewed from behind the glasses, the cancer cells glow blue.

DNA editing may spell the end for genetic diseases

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Debilitating conditions such as cystic fibrosis, sickle cell anaemia and haemophilia may soon be curable through the technique in which ‘exceedingly rare’ anomalies can be captured and amplified. ‘For our method to work, we needed to find a way to efficiently identify a single mutation among hundreds of normal, healthy cells,’ said report co-author Dr Yuichiro Miyaoka, of the Gladstone Institutes in California.

Gene Therapy: Ingenious

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It sounds like science fiction, and for years it seemed as though it was just that: fiction. But the idea of gene therapy—introducing copies of healthy genes into people who lack them, to treat disease—is at last looking as if it may become science fact. The most recent success, announced last month in the Lancet, was of an experimental treatment for choroideremia, a type of blindness.

Dying Message on Facebook Gone

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Shannon Wachal, 26, died on Valentine's Day of a genetic disorder called Neurofibromatosis Type 2. She left behind videos, personal messages, for her husband and daughter that she stored on her Facebook account. But when her husband Charles tried to access them, the account was locked in a memorialized state. Facebook has been trying to work with Charles and since Friday, he has been waiting for a response. When he finally heard from them, it wasn't the news he was expecting. Facebook said his wife Shannon did not have any additional videos set to private.

The PRMRP Fiscal Year 2014 Appropriation Announcement

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The Fiscal Year 2014 (FY14) Defense Appropriations Act provides $200 million to the Department of Defense Peer Reviewed Medical Research Program (PRMRP). The funding is provided to support select medical research projects of clear scientific merit and direct relevance to military health. This year research support includes Tinnitus.

Fighting cancer with light-activated drug delivery by nanoparticle

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A new type of treatment called "light-activated drug delivery" is showing promise as a way to give doctors control over precisely where and when drugs are delivered inside the patient's body. Now, researchers have developed a light-activated way to target cancer cells without hurting healthy tissue by using drug-carrying nanoparticles.

Man Sees Wife with NF2 Dying Message

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After a week of trying, a local man was finally able to view a video his wife left him before she died. Last week, when Charles tried to do just that, he found that Facebook had “memorialized” his wife’s account after determining she had died. That status meant the account would remain locked and all of Shannon’s privacy settings would remain exactly the same, meaning Charles could not locate the video. Then he figured out how to access the video through the iCloud that backed up data from his wife’s old cell phone on which the video was originally recorded.

In Vivo Functional Analysis of the Human NF2 Tumor Suppressor Gene in Drosophila

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Research Highlight: Here we describe experiments in which we used Drosophila as an in vivo system to test the functions of the normal human NF2 gene products and patient-derived mutant alleles. Although the predominant NF2 gene isoform, isoform 1, could functionally replace the Drosophila Merlin gene, a second isoform with a distinct C-terminal tail could not. Immunofluorescence studies show that the two isoforms have distinct subcellular localizations when expressed in the polarized imaginal epithelium, and function in genetic rescue assays correlates with apical localization of the NF2 protein.

On Data Sharing, Pharmaceutical Companies Finally Open Up

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Over the past few years, the pharmaceutical industry has been embroiled in controversy over access to clinical trial data. At issue is the ability for researchers to independently verify study results and, consequently, improve patient treatments that can lead to better health and lower costs. In response, a few drug makers have recently proposed differing plans for providing access, although the extent to which their efforts will assuage concerns remains to be seen.

Surgeons perform first auditory brainstem implant operation in Northeast Ohio

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Surgeons at University Hospitals Case Medical Center have completed the first auditory brainstem implant (ABI) operation in Northeast Ohio on a woman who has lost most of her hearing due to benign tumors on her auditory nerves. The patient has a relatively rare genetic condition known as Neurofibromatosis Type 2 (NF2). The incidence is estimated to be one in 40,000.

(Abstract) Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases

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Around 85% of the germline NF2 mutations are point mutations, among which approximately 25% seem to affect splicing. In the recent work by Castellanos and colleagues, a patient with a deep intronic mutation was identified. This mutation leads to the inclusion of a nonsense pseudoexon of 167nt in the mature mRNA, between exon 13 and exon 14, thus resulting in a truncated Merlin protein. Castellanos and colleagues have been successful in devising a therapeutic strategy for the first time for an NFT 2 case, using a PMO targeting the deep intronic mutation.

Scientists regenerate immune organ in mice

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British scientists have for the first time used regenerative medicine to fully restore an organ in a living animal, a discovery they say may pave the way for similar techniques to be used in humans in future. The University of Edinburgh team rebuilt the thymus - an organ central to the immune system and found in front of the heart - of very old mice by reactivating a natural mechanism that gets shut down with age.

Abstract: Primary auditory cortical responses to electrical stimulation of the thalamus

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Research Highlight - Cochlear implant electrical stimulation of the auditory system to rehabilitate deafness has been remarkably successful. Its deployment requires both an intact auditory nerve and a suitably patent cochlear lumen. When disease renders prerequisite conditions impassable, such as in neurofibromatosis type II and cochlear obliterans, alternative treatment targets are considered. In this study we explored another possible implant target: the auditory thalamus.

(Abstract) Re-evaluation of cytostatic therapies for meningiomas in vitro

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Research Highlight: To re-evaluate in cell culture models the therapeutic usefulness of some discussed chemotherapies or targeted therapies for meningiomas with a special emphasis on the role of the neurofibromatosis type 2 (NF2) tumor suppressor, which had been neglected so far. In addition, the study intended to evaluate a potential benefit from a treatment with drugs which are well established in other fields of medicine and have been linked recently with tumor disease by epidemiological studies.

'My life changed forever when I lost my hearing'

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In 2010, 25-year-old Helen Hunt was diagnosed with neurofibromatosis type two (NF2), which causes tumours to grow along nerves responsible for hearing and balance. After first volunteering at the Bury Society for Deaf and Hearing Impaired People last March, within two months she was hired as fundraising and marketing manager. Helen is spearheading the charity’s relaunch later this month, which will see the adult’s and children’s branches come together with a new name and logo.

Could chickens cure Deafness? Study reveals birds regrow damaged hearing cells

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Scientists studied the development of specialised cells within the inner ear in chickens, which unlike humans, have the capacity to regrow sound-detecting cells after suffering hearing loss. A study by the University of Virginia School of Medicine and the National Institute on Deafness and Communication Disorders says that if scientists understand what causes chickens’ cells to redevelop they could one day replicate the process in humans to reverse hearing loss.

new generation brain scanner uses optical technology

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A new optical approach to brain scanning compares favorably with neuroimaging techniques such as PET and MRI, according to a new study. Using tiny LED lights to track what is happening in the brain, the technology is radiation-free and does not require bulky magnets. In the journal Nature Photonics, scientists from the School of Medicine at Washington University in St. Louis report how they benchmarked the new technology - called diffuse optical tomography or DOT.

(PDF) Novel age-dependent targets in vestibular schwannomas

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Research Highlight: Schwannomas are the most common neurofibromatosis type 2 (NF2)-associated tumors with significant phenotypic heterogeneity in patients. The most severe subtype has an early and rapid progression and the mild type has a later onset and a less aggressive course. The aim of this study was to elucidate the underlying molecular differences between these groups. We compared the gene expression pattern between patients with early to late age of onset.

(Abstract) LIM domain kinases as potential therapeutic targets for NF2

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Research highlight: Here we report that mouse Schwann cells (MSCs) in which merlin function is lost as a result of Nf2 exon2 deletion (Nf2(ΔEx2)) exhibited increased levels of LIMK1, LIMK2 and active phospho-Thr508/505-LIMK1/2, as well as phospho-Ser3-cofilin, compared with wild-type normal MSCs. Our results suggest that LIMKs are potential drug targets for NF2 and tumors associated with merlin deficiency.

(Abstract) Proteomic screening identifies a YAP-driven signaling network linked to tumor cell proliferation in human schwannomas

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Research highlight: Inactivation of the NF2 gene predisposes to neurofibromatosis type II and the development of schwannomas. In vitro studies have shown that loss of NF2 leads to the induction of mitogenic signaling mediated by receptor tyrosine kinases (RTKs), MAP kinase, AKT, or Hippo pathways. The goal of our study was to evaluate the expression and activity of these signaling pathways in human schwannomas in order to identify new potential therapeutic targets.

(Abstract) NF2 Invasion of the Internal Auditory Canal Wall: Clinical Significance

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Research Highlight: The majority of IAC (internal auditory canal) tumors associated with the severe "Wishart" phenotype demonstrate bone invasion within the IAC. Invasion of bone was associated with poorer hearing. The invasive nature of NF2-associated tumors may partially explain their higher recurrence rate after resection. Surgeons managing NF2-related VS should be aware of the small infiltrations of the wall of the IAC when removing these tumors to minimize recurrence.