Global Network of Neurofibromatosis Patient Organisations

NF Awareness

Rare Disease Day 2023

Rare Disease Day is a special day held on the 28th of February to raise awareness of rare diseases and to remind people of the challenges faced by those affected by them. One such disease is neurofibromatosis, which affects 250.000 people in Europe. NF is a group of genetic disorders that cause tumours to form on nerve tissues. There are three types, each with different signs and symptoms:

NF 1 is usually diagnosed during childhood. More than 100 different symptoms can occur in NF 1. The most significant issue is the growth of tumours on the nerves, which can appear anywhere in the body, including the brain, the spine, life important organs or the skin.

NF 2 / Merlin Syndrom can cause tumours on the nerves, emerging from the Schwan-cells. These tumours often occur in the brain and the spine. Leading to 50%  of adult patients losing their hearing. Also, facial paralysis, impairment of balance, headaches, chronic pain and also cosmetic issues can trouble the lives of NF2 patients.

Schwannomatosis is very much alike as NF2. Brain tumours are less common in Schwannomatosis patients than in NF2 patients. It typically causes Schwannomas, benign tumors, that can occur anywhere on the nerves. They can cause severe, chronic pain and even lead to loss of function of a nerve.

Despite the challenges faced by people with NF, there is progress in finding new treatments and therapies. By spreading awareness and advocacy, we can support those living with NF and work together for a brighter future.

On such an important day, let us celebrate the strength of those living with rare diseases!


Rare diseases currently affect 5 % of the worldwide population