How can we avoid neurofibromatosis

What is neurofibromatosis?

It can often take years before the correct diagnosis is found. Because the disease progresses very slowly, the signs can vary from person to person and sometimes develop over years.

Neurofibromatosis is a condition that is closely related to the nerves in the body. Our nerves conduct electrical impulses like a power cable. The insulation of the conduction pathway is formed by specialized cells, so-called Schwann cells. In neurofibromatosis, these cells result in tissue nodes at the nerve endings under the skin or benign new tissue formations on nerves.

The genes play a role

Neurofibromatosis is caused by a gene mutation. The mutations arise spontaneously in 50 percent of those affected. As a person affected, there is a 50 percent chance that you can pass the disease on. If you would like to have offspring, you can speak to your doctor about it or contact a genetic counseling center.

Doctors distinguish between two types

Type 1: first signs on the skin in early childhood

Neurofibromatosis can occur in the first few years of life. Then doctors speak of type 1, also called Recklinghausen's disease. The disease affects about as many people as Down syndrome. Pigment disorders of the skin within the first year of life are typical. In up to 80 percent of the infants affected, parents notice so-called café-au-lait spots. Freckle-like spots in the armpits or on the groin are also typical. Later on, connective tissue nodes often develop in the skin.

The disease is associated with learning disorders such as attention deficit / hyperactivity disorder, or ADHD for short. About half of all children with neurofibromatosis type I have a learning disorder. If your child has difficulties with their balance, for example when they learn to ride a bike, or if their development is lagging behind their peers, they will benefit from individual support.

How much the disease affects your child's health is individual. Some children show only mild symptoms and are hardly affected by the condition.

During puberty: build your child's self-esteem

The path from child to adult is associated with uncertainties for all young people. As parents, you can support and encourage your child's development. This also includes regular doctor's appointments: Find a doctor that your child can trust and who is familiar with the disease, and let your child have a say in the choice of doctor. Allow him to speak to the doctor alone. In special self-help groups for young people affected, your child can get to know like-minded people and exchange ideas. You can find corresponding offers on the website of the Federal Neurofibromatosis Association.

Type 2: Hearing and balance problems in adulthood

Neurofibromatosis type 2 does not occur until after puberty or in adulthood and is less common than type 1, more precisely in about one in ten people affected. One in 25,000 people worldwide falls ill. The symptoms can be diverse and are caused by benign tumors on central nerves, mostly on the auditory and equilibrium nerves. Symptoms include:

  • sudden hearing loss
  • Balance disorders
  • Headache or other diffuse symptoms
  • seldom pigmentation disorders such as café-au-lait spots

Find an experienced doctor

As for other rare diseases, there are specialized centers for neurofibromatosis. The doctors there are very familiar with your illness and have treated many patients in a similar situation. You can also find a center near you on the website of the Bundesverband Neurofibromatose e. V.

Research is pursuing promising therapeutic approaches

At the moment there are therapies available with which your illness can be treated symptomatically. The neurofibromas can be surgically removed if they are cosmetically disturbing or if a skin tumor could develop from them.

Neurofibromatosis is associated with a slightly increased risk of cancer: it is about five percent higher than in healthy people. Annual check-ups, for example at the dermatologist, are therefore important for you as the person affected. You should also attend the regular check-ups with the neurologist and orthopedic surgeon so that changes in nerves and muscles or malpositions of the bones can be recognized and treated at an early stage.

A cure is currently not possible, so scientists are researching the effects of antibodies, among other things. Such therapies are currently being investigated in studies and, according to experts, could be a real therapeutic alternative in the future.

Everyday life with neurofibromatosis - many sufferers show how it is done.

In a life with a disease like neurofibromatosis, you need above all confidence and zest for life - especially because the course of the disease cannot be predicted for the individual. Make yourself aware of your strengths and accept yourself for who you are. Whether in your professional or private everyday life: Find support from family and friends and take help if necessary. Approach those around you with self-confidence and optimism and also seek professional help to cope with the special challenges. For example, contact your doctor or seek discussions in a self-help group for those affected.