About NF

What is Neurofibromatosis?

Neurofibromatosis (NF) is the name given to a set of genetic disorders. There are three disticnt types–NF1, NF2, and Schwannamatosis.  I have NF1.  This blog will tell of how NF manifests in me.  Read below for a general overview of its general manifestations.

According to the Children’s Tumor Foundation:

Neurofibromatosis 1 (NF1): also known as von Recklinghausen NF or Peripheral NF. Occurring in 1:3,000 births, characterized by multiple birthmarks (cafe-au-lait spots) and tumors (neurofibromas) on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities.

NF1 may also lead to disfigurement, blindness, deafness, brain and spinal tumors, bone abnormalities, and learning disabilities.  There is no cure for NF, no way to predict where and when tumors will grow nor is there any treatment to prevent or stop tumor growth.

Neurofibromatosis 2 (NF2): also known as Bilateral Acoustic NF (BAN), is much rarer occurring in 1:25,000 births. NF2 is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom.

Schwannomatosis: a rare form of NF that has only recently been recognized and appears to affect around 1:40,000 individuals. It is less well understood than NF1 and NF2, and features may vary greatly between patients.