Learning that a child has—or may have—neurofibromatosis can be a very difficult experience

Learning that a child has—or may have—neurofibromatosis can be a very difficult experience. Very often it comes as totally unexpected news about a child who appears to be perfectly healthy save for the presence of some innocent-looking brown spots on the skin. Often these spots have gone overlooked for years, passed off as simple "birthmarks". Now, suddenly, a child is labeled as having "neurofibromatosis", an unpronounceable word that many doctors have to look up in their textbooks to explain. Everything seems uncertain. Some people have no major health problems due to neurofibromatosis, whereas others are severely affected, and there is no way to predict what the future holds. Even the diagnosis itself is often uncertain and nobody can say at what point a definite diagnosis might be possible. Finally there may appear to be no place to turn to for reliable information or support. Most existing brochures and support groups seem to stress the more severe manifestations of neurofibromatosis. How do these apply to the child with mild signs, children with only a few cafe-au-lait spots? It is the purpose of this brochure to attempt to place mild or early neurofibromatosis in perspective. To some extent neurofibromatosis is an unpredictable condition, and uncertainty is inevitable. It is hoped, however, that access to accurate medical information will make this uncertainty easier to live with and understand.