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Understanding Neurofibromatosis Type 2 an INTRODUCTION for PATIENTS and PARENTS

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Understanding Neurofibromatosis Type 2 an INTRODUCTION for PATIENTS and PARENTS To Leah, the Sexton Family and everyone affected by NF2. “We cannot change the cards we are dealt, just how we play our hand.” (The Last Lecture, by Randy Pausch) Our hope someday is that there will be no need for this booklet. To the researchers and doctors who have dedicated their professions to finding treatments fot NF2: We did not choose NF2, but we are forever grateful you have. Project Leader: Kim Bischoff Layout and editing: Kelly Walsh-Curtis Published through the NF Network, 2012 www.nfnetwork.org Understanding Neurofibromatosis Type 2 AN INTRODUCTION FOR PATIENTS AND PARENTS Introduction What are the other forms of Neurofibromatosis? The purpose of this book is to assist NF2 patients and their family members Neurofibromatosis 1 (NF1): also to gain information and to know that known as von Recklinghausen NF or you are not alone. As you begin your Peripheral NF. NF1 occurs in 1:3,000 NF2 journey you may have feelings births, is characterized by multiple similar to others before you. You are cafe-au-lait spots and neurofibromas overwhelmed, wishing it would all go on or under the skin. Deformation of away, and most of all scared. Suddenly bones and curvature of the spine (sco- all the hopes and dreams you have for liosis) may also occur. Occasionally, yourself/family member may feel like tumors may develop in the brain, on they are being taken away. NF2 re- cranial nerves, or on the spinal cord. search continues to advance and scien- About 50% of people with NF also tists are beginning to piece together the have learning disabilities. NF2 puzzle. We now have hope that surgery will not be the only treatment Schwannomatosis: a rare form of NF for NF2 tumors, and that research that has only recently been recognized may lead to salvaging hearing, the and appears to affect around 1:40,000 life-altering sense typically robbed by individuals. It is less well understood those affected with NF2. Hopefully, than NF1 and NF2, and features may you will be glad you read this booklet, vary greatly between patients. more informed at the end, but most of all feeling optimistic that you are not alone and that together we can make ...together we can make a difference a difference and improve the lives of and improve the lives of those those affected by NF2. affected by NF2... 1 the first person in their family to have What is NF2? NF2. Neurofibromatosis type 2 is a genetic condition that causes a predisposition What are the presenting symptoms? to develop bilateral (affecting both The typical presenting symptoms for sides) vestibular schwannomas (tu- adult NF2 patients include hearing mors on the 8th cranial nerve, which loss, tinnitus (“ringing” in the ear), affect hearing and balance) and other and balance problems. In pediatric tumors on any nerves in the body. Pa- NF2 patients, presenting symptoms tients are born with NF2; it is not ac- may also include skin tumors, visual quired during life. problems, spinal cord compression, and seizures. How is NF2 different from unilateral vestibular schwannoma (acoustic How is a diagnosis of NF2 neuromas)? confirmed? Unilateral (one-sided) vestibular A diagnosis of NF2 is confirmed by schwannomas are common in the gen- clinical and radiologic evaluation. eral population and account for about There are multiple criteria that physi- 7-9% of all brain tumors. The aver- cians use including the National Insti- age age at presentation for a unilateral tutes of Health (NIH) criteria and the vestibular schwannomas is around 55 Manchester criteria. Your physician years. In contrast, bilateral vestibu- can provide details about the individ- lar schwannomas are characteristic of ual criteria. Essentially, three groups NF2. NF2 patients typically present in of patients meet these criteria. The the late teens or early 20s with symp- first group of patients includes those toms related to vestibular schwanno- with bilateral vestibular schwannomas mas. Some patients with NF2 can have on MRI scans. The second group of unilateral vestibular schwannomas plus patients includes those with a family other features of NF2 such as menin- history of NF2 in a first degree rela- giomas, non-vestibular schwannomas tive (eg., a parent or brother/sister) or cataracts. and a personal history of vestibular schwannoma (either unilateral or bi- How common is NF2? lateral). The third group of patients Neurofibromatosis 2 is an uncom- includes those with no family history mon disorder thought to occur in 1 of NF2 but with a unilateral vestibu- in 25,000 live births. Although it is lar schwannoma and at least 2 other a genetic disorder, many patients with clinical signs of NF2 that may include NF2 lack a family history. This oc- meningioma, neurofibroma, ependy- curs in about half of patients who are moma, or juvenile cataracts. 2 Why do I have NF2? NF2 presents in two different ways. In about half of the patients it is inherited from a parent, the term familial is used in these cases. The other half of patients have no family history and the term sporadic is used. A genetic mutation occurs shortly after fertilization, resulting in the NF2 gene alteration. Some sporadic cases present as mosaic NF2, a genetic term that means not all of the cells in their body have the NF2 gene alteration. Patients with mosaic NF2 may have milder symptoms compared to others. Key: squares = men; circles = women; filled in = affected with NF2; unfilled = unaffected Typical family tree for someone who inher- Typical family tree for someone who is the its NF2, each generation may be affected by first in their family with sporadic NF2. familial NF2. If I have NF2, what about my children? The transmission pattern for NF2 is autosomal dominiant. Meaning, on average, each pregnancy carries a 50% risk of passing the NF2 gene onto your children, whether the father or mother has NF2. The one ex- ception to this may be mosiac patients, whose risk may be less NF2 is passed by autoso- NF2 occurs sporadically in than 50%. For all those affect- mal dominance in about about half the cases, there is half the cases. If one no family history, they are ed by NF2, a genetic special- parent has NF2, just like the first in the family to be ist can help estimate the risks tossing a coin, each preg- diganosed. nancy carries a 50% risk based on your personal medical of NF2 passing onto the history. child. 3 What tests are important for a Chronic hearing loss is defined as a patient with a new diagnosis of decline in hearing over time (months NF2? to years). Surprisingly, there is a poor Patients with a new diagnosis of NF2 correlation between tumor size and should undergo an extent-of-disease hearing loss in patients with NF2. In evaluation. The goal of this evaluation practice, patients with large tumors is to understand what manifestations may have good hearing and patients of NF2 an individual patient has. The with small tumors may be deaf. Sur- evaluation may include an MRI scan gery is the mainstay of treatment for of the brain with contrast and with vestibular schwannomas, but medica- fine cuts (3 mm slices) through the tions are currently being studied as a internal auditory canal, an MRI scan treatment option. Surgeries that in- of the spine, a hearing test (including clude cochlear nerve implants and au- measurement of pure tones thresholds ditory brain stem implants maybe an and word recognition score), and an option for hearing assistance. ophthalmologic evaluation. In some individuals, evaluation of swallowing Potential complications of surgery or voice quality is indicated. In some include: Complete hearing loss, facial patients (those considering starting a weakness, hoarseness, difficulty swal- family), genetic counseling is also ad- lowing, and headache. It is important visable. for NF2 patients to consult with ex- perienced surgeons when they are What’s the deal with vestibular considering surgery for their vestibu- schwannomas? lar schwannomas. Studies have shown Vestibular schwannomas are the hall- that medical centers that perform mark tumor of NF2. These tumors are many surgeries have better outcomes associated with hearing loss that can than centers that perform only a few occur suddenly or gradually over time. surgeries. Sudden hearing loss is defined as a decrease in hearing that occurs in Facial weakness is associated with a re- less than 72 hours. This type of hear- duced quality of life in a patient with ing loss is usually treated with steroid NF2. Facial weakness can involve the medications taken by mouth and usu- upper face (forehead and eyes), mid- ally recovers with treatment. When pa- face (cheeks and nose), and lower face tients experience sudden hearing loss, (mouth and chin). There are surgical they should contact their medical team and non-surgical procedures that can immediately for treatment. improve this problem. 4 Patients with upper facial weakness dren with NF2 unless all other options usually have difficulty completely clos- have been considered. ing their eyes. If left untreated, this can result in scarring of the surface of the Medical researchers are actively look- eye (cornea) and ultimately blindness. ing for new treatments for NF2-relat- For this reason, treatment of facial ed vestibular schwannomas. Currently, weakness is essential for NF2 patients. clinical trials are underway to identify Patients with a “facial droop” are often new medicines to treat these tumors. self-conscious about their appearance. What’s the deal with meningiomas? Dealing with issues of self-esteem Meningiomas are benign (non-can- is important in maintaining mental cerous) tumors of the covering of the health for NF2 patients. brain and spinal cord.
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