FREQUENTLY ASKED QUESTIONS

What is neurofibromatosis?

The neurofibromatosis (NF1 and NF2) are two separate genetic disorders which cause tumors (mostly benign) to grow on all types of nerves, including those under the skin and elsewhere, potentially affecting the brain, eye, ear, throat and spinal cord. NF can also affect the development of non-nervous tissues such as bones and skin.

Does NF have a treatment or cure?

At the present time, there is no way to prevent or cure NF. Some symptoms can be improved with surgery or other interventions. Many patients successfully manage the disease and lead productive lives –but only with the help of a well-informed and dedicated medical and social service team.

Who gets NF?

Approximately one in every 2,500-3,000 babies born has NF1. Approximately 100,000 people in the United States have NF. NF occurs in equal numbers of men and women, and in every racial and ethnic group.

What causes NF?

NF can be inherited from a parent (autosomal dominant) or caused by a genetic change (spontaneous mutation), meaning any child can be born with NF. There is nothing a parent can do or not do to cause this change. Those with a spontaneous genetic mutation did not inherit the disease, but can pass it on to their children.

What makes NF so difficult and expensive to manage?

No two NF patients, including those from the same family, report the same severity or type of symptoms. The unpredictable nature of the disease requires close coordination between medical specialists and frequent follow-up examinations and testing. Patients, even those with mild symptoms, carry the concern of unforeseen developments, especially during adolescence and pregnancy. These symptoms can also increase with age.

Is there a test for NF?

In the past, testing to determine whether an individual has the changed gene that causes NF1 or NF2 has required that at least two family members with NF and multiple family members without NF provide blood samples. This type of testing is called linkage analysis. This cannot be used to diagnose individuals who have no family history of NF. Recently direct gene testing has become available. This means an individual can be tested without blood samples from other relatives. However, it is not 100% accurate. Further research is necessary to make testing for both NF1 and NF2 more accurate. For more information on gene testing consult the geneticist at a NF Clinic.