It is very important to take the necessary steps to see a doctor who is well informed about NF. This doctor can then help you and, if necessary, refer you to various specialists, such as a neurologist, a geneticist, an ophthalmologist, etc. Do not hesitate to ask questions. Other people with neurofibromatosis could also help you.
Research is continuing, and enormous progress has been made in the last fifteen years. The two genes, NF1 and NF2, have been identified and mapped to their respective chromosomes. Research is being done in labs to understand the origin and evolution of this genetic disturbance. This is a huge task but also a sign of hope, as researchers believe that they can find effective treatments.
Certain treatments can act on the complications and tumours generated by the disorder. For example, surgery can be recommended for tumours that are painful or that affect the functioning of a vital organ. Surgery could also benefit a serious scoliosis, but a prosthesis may be more appropriate for a mild scoliosis. So far, however, no specific cure has been found for NF itself.
Neurofibromatosis is a genetic disorder which affects the skin and the nervous and skeletal systems. It may be inherited from either parent in 50% of cases or result from a spontaneous genetic mutation.
Symptoms vary a great deal, even within the same family. There are seven different forms of NF. The most common is NF1, also known as von Recklinghausen neurofibromatosis.
Another form, NF2, is called bilateral acoustic. It is a very different and much rarer disorder, characterized by tumours affecting the auditory nerves, sometimes associated with other tumours of the central nervous system.
It should be pointed out that NF is not contagious. And, it is not the Elephant Man’s disease, also called Proteus syndrome.
The complications listed below will affect about 25% of NF patients, so it is important for all affected individuals to be examined periodically by a physician who is familiar with NF and its problems.
These complications are :
- Disfigurement, caused by an internal tumor.
- Scoliosis, an S-shaped curvature of the spinal column.
- Optic glioma, an optic nerve tumour that can cause vision problems.
- Congenital bone malformations.
- Macrocephaly, or above average head circumference, a trait that characterizes many children with NF but that does not cause them any problems.
- Hypertension, a complication that may affect people with NF but does not always result from their disorder. Two problems related to NF can cause hypertension: renal stenosis, which is a kidney artery blockage, and a usually benign suprarenal gland tumour.
As well, 40% to 60% of affected individuals will face learning disabilities, many of which are non-verbal. This underlines the importance of early screening for the disorder and the implementation of educational measures and adapted teaching techniques, for adults, as well. Cooperation between the medical, school and family environments is a prerequisite for affected children to develop their full potential.
In NF, the evolution of the disorder is difficult to determine and the manifestations and consequences can vary. But, to the extent where affected individuals benefit from strong family and social support and adequate health care throughout their lives, they generally lead normal and productive lives.
There is no precise way to determine how many people are affected but we know there are 100,000 persons affected in the United States and 10,000 in Canada. One out of 3,000 babies are born with NF1 each year. NF2 affects approximately 1 in 25,000 people.
Neurofibromatosis equally affects men and women of all ethnic groups. This makes NF one of the most common hereditary or genetic disorders.