What is Neurofibromatosis?

Neurofibromatosis, also known as NF, is a genetic disease that causes tumors to grow on nerve pathways anywhere in the body. It affects 1 in every 2,000 births throughout the world, and 4 million people worldwide are living with some form of NF. Neurofibromatosis can be inherited or be the result of a spontaneous change in the gene.

There are three types of Neurofibromatoses – NF1, NF2, and Schwannomatosis. NF1 is the most common type and is the primary focus of our efforts. NF1 is characterized by multiple café-au-lait (light brown) skin spots, freckling in the armpits or groin, and/or neurofibromas (small benign growths) on or under the skin. About 50% of people with NF1 also have learning challenges. Tumors may develop in the brain, on the spinal cord, and/or on nerves all throughout the body. While NF1 tumors are generally not cancerous, they may cause significant deformities and health issues such as blindness. Sometimes benign NF1 tumors do become malignant.

NF1 is usually diagnosed in childhood. It manifests very differently from person to person, including in biological siblings. At present, there is no way to predict who will develop which features of the disease and how severe those features will be.