Neurofibromatosis or Nf1 is a genetic disorder that results in the growth of tumours affecting the nervous system. The genes in this disorder undergo mutation and are then passed on to off-springs. Ras activity is affected and neurofibromin protein loses its binding capacity as a result of this disorder. Although these tumours are typically non-cancerous, they may sometimes show cancerous symptoms and necessitate surgery, radiation, chemotherapy etc. Symptoms of this disorder vary widely which is why it becomes difficult to detect Nf1 easily.

Among the common variants under the category of this disorder (neurofibromatosis 1 and 2, and schwannomatosis) Nf1 is the most common type. Neurofibromatosis is estimated to occur in roughly 1 out of 3000 births; approximately 2 million worldwide are diagnosed with nf1.

Typical symptoms can be detected through by café-au-lait spots that occur on or under the skin. In children, the bones can become enlarged or deformed and the curvature of the spine may also be affected, which is termed as scoliosis. Learning disabilities are also common in people due to growth of tumours in the brain and around the cranial nerves. More severe symptoms like dermal brain, loss of limbs, deafness or balance problems, malignancy and blindness can also occur in rarer cases.

Since nf1 is a genetic disorder, it is inherited from parents who either have nf1 or suffer from a mutation in their gene cells and thereby in the sperm or egg cell. People with nf1 typically have an autosomal dominant gene that brings about the disorder. When any parent possesses mutated gene, their children have 50% chances of inheriting this disorder.

Neurofibromatosis can affect any human being irrespective of race, ethnicity, sex or age worldwide.

Genetic counselling is advised for couples who detect nf1 genes and are planning to have a baby. Although counsellors are not able to provide concrete solutions to the problems caused by this disorder, they will definitely inform you of alternatives. There is no way to predict if the offspring will inherit the mutated gene or not. However, methods like artificial insemination, surrogacy or adoption may be suggested in such cases.

Most Nf1 symptoms are not detected until people reach the age of around 7 or approximately the onset of puberty.

Nf1 is usually diagnosed by tests involving CT scans, MRI scans and X-rays. Doctors usually record a patient’s complete medical history and all forms of neurological and ophthalmological tests are taken as well.

Children with neurofibromatosis disorder must be handled with special care. Proper understanding of the disorder is necessary to alleviate any form of fear that a child might associate with nf1. Accurate information and education of nf1 symptoms must also be initiated.

Statistics reveal that although Nf1 is not the direct cause of death in most cases, the manifestations caused from tumours and other related physical disorders bring about complications and decreased chances of survival.

Learning disabilities make up the most widely and commonly found symptom in children with nf1. These problems pertain to reading, speech development and phonological dyslexia.

Being a genetic disorder, NF1 is usually hard to find and resolve. This makes it imperative to detect symptoms at the earliest in order to avoid passing it on directly to one’s offspring.