Neurofibromatosis (NF) is a highly complex, often devastating set of genetic disorders that includes NF1, NF2 and Schwannomatosis. NF is more prevalent than cystic fibrosis and muscular dystrophy combined, yet it is not a widely known condition. NF causes tumors to grow anywhere on the nerves within or on the body and these tumors can cause: disfigurement; learning disabilities; pain; loss of limb, hearing, or eyesight; paralysis or worse.
NF is highly variable and some people are mildly affected, while others may be more severely impacted. NF is a chronic, life-time disorder that will progress. It affects all races, ethnicities and genders equally. While it is a genetic disorder that can be passed on to children, over half the babies born with NF have what is called a spontaneous mutation, so anyone can suddenly find a loved one has NF even if there is no family history of it.
NF has so many variations and the severity and manifestations can vary greatly, even among family members. Sometimes the manifestations of NF are invisible, and with many with NF, you might not know someone has it, unless you know what to look for.
NF1 is the most common form of NF and affects approximately 1 in 2,500 people -- see http://www.nfnetwork.org/understanding-nf/what-is-nf for more information.
Clinical indicators can include café-au-lait spots, freckling in armpits and/or the groin, lisch nodules on the eyes, neurofibromas and skeletal abnormalities. NF1 patients may be at a higher risk for learning disabilities, bone deformities, seizures, autism spectrum disorder, ADD, speech problems, scoliosis and cancer.
NF2 is less common and is characterized by slow-growing tumors on the vestibular branch of the right and left eighth cranial nerves, often called vestibular schwannomas or acoustic neuromas. NF2 can cause deafness, severe balance problems, facial nerve paralysis, spinal cord compression, swallowing difficulties and/or eye function complications.
The distinctive feature of Schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body which are incredibly painful and debilitating.
There is no treatment and no cure for NF, which is why further research is so vitally important. The very first step along the path to a cure is to make more people aware of NF; the more people who are aware of NF means that more effective research can take place, ultimately leading to treatments and a cure.
May is Neurofibromatosis Awareness Month. Please help increase awareness by sharing this post with family, friends and colleagues. More information about neurofibromatosis is available at nfincne.org.
You may know someone who has NF but you may not know it. Help make NF a disorder of the past.