Neurofibromatosis Type 2

For many years, my family has been asked if our Mother has had a stroke or bellspaulsey.  The answer is "no" to both.  The disorder our mother has is called Neurofibromatosis Type 2. Neurofibromatosis type 2 is also call BANF, bilateral acoustic neurofibromatosis, central neurofibromatosis, familial acoustic neuromas, neurofibromatosis 2, neurofibromatosis type II, NF2, schwannoma, acoustic,  and bilateral.  This disorder is characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also found with NF2.   Our mother had bilateral acoustic neuromas which were removed of from her auditory nerves which left her profoundly deaf, caused the facial paralysis, a lack of tears, lack of saliva and had major impacts on her balance and taste buds.   Our mother has undergone a total of 8 different surgeries to deal specifically with this disease. She has had 5 cranial surgeries, 1 gamma surgery, 1 tumor removed from her spine and one removed off of her eyeball.  Thus far there have been 9 very large tumors removed and a multitude of small ones (too many to count).

Mothers symptoms began after the birth of her third child and she was in her early 30's.   She experienced severe hearing loss which no one including the doctors could explain.   Finally in 1988 she was given an MRI and was diagnosed with NF2.   NF2 symptoms are usually noticed in their teens or early twenties.   However, this disease is random and ,as with my Mom, the tumors can begin at any age. The most frequently noticed early symptoms include hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, the tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications with NF2 include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.  Mom had a tumor actually come up on her eye ball and has had cateract surgery as well.  

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Mutations in the NF2 gene cause neurofibromatosis type 2. The NF2 gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system,  which surround and insulate nerve cells (neurons) in the brain and spinal cord. Merlin acts as a tumor suppressor, which keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although its exact function is unknown, this protein is likely also involved in controlling cell movement, cell shape, and communication between cells. Mutations in the NF2 gene lead to the production of a nonfunctional version of the merlin protein that cannot regulate the growth and division of cells. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of neurofibromatosis type 2.

Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people worldwide and it is an autosomal dominant pattern of inheritance.  Typically those with NF2 are born with one mutated copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2 gene and occur in people with no history of the disorder in their family.  Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF2 gene must be altered to trigger tumor formation in neurofibromatosis type 2. A mutation in the second copy of the NF2 gene occurs in Schwann cells or other cells in the nervous system during a person's lifetime. Almost everyone who is born with one NF2  mutation acquires a second mutation (known as a somati mutation) in these cells and develops the tumors characteristic of neurofibromatosis type 2.

This is a list of resources which address the diagnosis and management of neurofibromatosis type 2.  I have found these links very helpful over the last 20 + years. 

• Boston Children's Hospital
• Gene Review: Neurofibromatosis 2
• Genetic Testing Registry: Neurofibromatosis, type 2
• MedlinePlus Encyclopedia: Acoustic Neuroma
• MedlinePlus Encyclopedia: Neurofibromatosis 2
• Neurofibromatosis Clinic, Massachusetts General Hospital

This is a list of good resources to help you get a better understanding of this disorder.

• MedlinePlus - Health information (4 links)
• Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases
• Additional NIH Resources - National Institutes of Health (2 links)
• Educational resources - Information pages (9 links)
• Patient support - For patients and families (5 links)

If you want to help cure this awful disorder support NF2 research by going to the website below to get your NF2 bracelets. 

http://nf2crew.org/marketplace/nf2-awareness-wristbands

       http://www.nfmidwest.org/learn-about-nf/nf2/nf2-specific-resources/