What is Neurofibromatosis?

If you have found your way here, you are probably wondering just what is neurofibromatosis (NF for short)?

NF is a genetic disorder that causes tumors to grow on the nerves of the body. Tumors can grow on any nerve, anywhere, therefore affecting many parts of the body, including the brain, spinal cord, nerves, skin, and other body systems. Treatments for NF require a multi-disciplinary approach from several different fields of medicine.

There are three different types of NF. NF 1, and 2, and Schwannomatosis.

NF 1 is the most common of the three affecting 1 in 3,000 births and generally diagnosed early in childhood. NF 2 affects 1 in 25,000 births and is usually diagnosed in late teens or early adulthood. Schwannomatosis affects less than 1 in 40,000 births and usually occurs between the ages of 30 and 60.

NF can be inherited or caused by a spontaneous gene mutation (change). Of those affected by NF, 50% have a chance of passing it to their offspring.

Although NF is one of the most common genetic disorders, far too many people have never heard of it. Awareness, and research, are the keys to developing treatments and finding a cure.

The effects of NF are as individualized as each person. There are “common” effects but usually no two people are affected in the same way.

3 Types of Neurofibromatosis

NF1

Some of the common effects of NF 1 can include:

  • Café au lait spots
  • Learning disabilities
  • Curvature or softening of the spine
  • Freckling in the groin area, armpits, or eyes
  • Neurofibromas (small benign tumors)
  • Plexiform tumors
  • Smaller physical stature with a larger head
  • High blood pressure
  • Generalized pain
  • Lisch nodules (tiny, noncancerous bumps on the iris) 
  • Optic Gliomas (often leading to vision loss)

NF2

Some of the common effects of NF 2 can include:

  • Vision problems, possibly cataracts
  • Balance issues
  • Seizures
  • Facial weakness
  • Peripheral neuropathy
  • Tumors on vestibular nerves (that may lead to hearing impairment)
  • Generalized pain

Schwannomatosis

Some of the common effects of Schwannomatosis can include:

  • Numbness
  • Generalized weakness
  • Bowel and/or urinary difficulties
  • Vision changes
  • Headaches
  • Schwannomas (tumors) that may grow deeper in the body

NF Registry

The Children’s Tumor Foundation is one foundation that is actively pursuing effective treatments as well as a cure for NF. One of the very important opportunities they offer for everyone affected is to be part of the cure with the NF Registry. If you, or a loved one, has any form of NF, registering can be a gift that keeps on giving. Currently with over 7,000 participants, a cure could be right around the corner. The registry allows patients or loved ones to search new therapies and stay up to date with ongoing research. If interested, check it out at www.nfregistry.org.

*Information gathered from (but not directly quoted from)
The Children’s Tumor Foundation (CTF)
www.ctf.org