Laura Fuchs

What is Neurofibromatosis? Are there different types of this disease?

Neurofibromatosis is a genetic disease that causes tumors to grow on different cells and nerves. It can also affect the development of non-nervous tissues such as skin and bones. There are three types of Neurofibromatosis. They include NF-1, NF-2, and Schwannomatosis.

NF-1 is also known as von Recklinghausen NF and it usually occurs in one in every 3,000 births. It can be characterized by café-au-lait spots on or under the skin. Other symptoms include deformed bones, scoliosis, tumors on the brain or spinal cord and learning disabilities.

NF-2 is also known as Bilateral Acoustic NF, occurring in 1 in 25,000 births. The symptoms include tumors on the brain and spinal nerves which can affect both of the auditory nerves. Hearing loss may result in the late teens and early twenties.

Schwannomatosis is a very rare form of NF affecting only one in 40,000 births. Not much is known about this form and the symptoms can vary from person to person.

How are the types of NF passed on genetically?

Both NF-1 and NF-2 are autosomal dominant genetic disorders. 50% of people born with NF inherited it from one of their parents, and the other 50% of NF cases occurred from a genetic mutation before birth. People with NF have a 50% chance of passing this disease to their children if they inherited it from their parents. The other 50% who are affected by this disease and received it from a genetic mutation do not have the 50-50 chance of passing it to their children.

What is the average age when Neurofibromatosis is diagnosed?

NF-1 is usually discovered in people between the ages of new born to early teens. NF-2 is usually diagnosed in the teenage years when people complain of hearing loss and trouble with balance.

What is it like living with NF?

“LIVING with neurofibromatosis (NF) has been a challenge for me due to the fact that waking every morning, I am constantly aware of the visual and physical aspects of it. I have tumors that cover my entire body which is not pleasing, and it is still taking time to overcome. But with positive thought and prayer, I arise each morning to tackle the day as I will throughout my entire life.

Having NF makes me a reserved person, not wanting to approach situations. However, NF does make me stand out in a crowd. I don’t go swimming in public places, for example.

With the knowledge of the support group and working with Neurofibromatosis, Inc.-Mid-Atlantic for many years, I have been able to mentally keep on an even keel and have a positive outlook on life. For 20 years I have served on the organization’s Board of Directors. I have made talks to medical students, visited offices on Capitol Hill, appeared on television, and participated in fundraisers.

My family and friends have also aided in my support and encouragement. My mother, who also has NF, has been my strongest ally. Not being physically disabled by NF, I have learned to just go on and to be a productive citizen helping others whenever I can.” http://www.nfmidatlantic.org/experiences.htm

How is NF physically limiting?

Most people with NF do not have to limit their activities and they are not necessarily prone to injury. People with scoliosis usually have to wear a back brace. This may limit them from playing some sports and it may cause slight immobility. People with NF-2 or Schwannomatosis may benefit from balance exercises.

Can Neurofibromatosis become fatal? Is NF more common in certain ethnic and religious groups?

Neurofibromatosis is not a fatal disease unless a tumor would become malignant. If this happened, and was left untreated, the cancer could possibly spread throughout your body and kill you.

There is no one ethnic or religious group that is more affected by NF.

Are there any cures or treatments for NF?

At this time there are no cures for NF but researchers are trying to find new and more effective treatments for this disease.

Is there gene therapy for NF?

At this time, gene therapy does not exist. Gene therapy could be considered the “ultimate” cure, but it is many years away from being readily available.

What tests can be done to detect Neurofibromatosis? Can NF be detected before the symptoms appear?

Test such as MRIs and X-Rays can be used to detect tumors inside the body. To diagnose NF-2, doctors will check for hearing loss by using a hearing test. Amniocentesis can sometimes determine if the woman’s unborn baby has Neurofibromatosis.

Sites used: