Neurofibromatosis (NF) is a serious and incurable genetic condition that affects the nervous system, skin and bones. It comprises a group of three disorders, the most common of which is Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease.

NF is characterised by the growth of tumours (neurofibromas) along the nerves throughout the body. These tumours are usually non-cancerous (benign), but their location and size can cause serious complications and lead to permanent damage. In some cases, the tumours may even become cancerous (malignant).

• ​Skin changes: Typical signs include ‘café au lait’ spots (the colour of white coffee) and freckles in unusual areas, such as the armpits.
• Neurofibromas: Non-cancerous tumours that grow on the skin, under the skin, or inside the body along the nerves. Their removal often requires repeated and complex surgical procedures.
• Bone problems: Scoliosis (curvature of the spine), deformities of the long bones or osteoporosis are common.
• ​Neurological problems: Learning difficulties, attention deficit hyperactivity disorder (ADHD), autistic traits and, in some cases, optic nerve gliomas (in NF1) or acoustic nerve tumours (in NF2), leading to hearing loss and loss of balance.
• Constant health risks: Patients require lifelong monitoring by a range of specialists, as new and unexpected complications continually arise.

There is no cure for neurofibromatosis. Treatment is therefore lifelong, symptomatic and extremely costly.

1. ​Surgical procedures: Funding for costly operations to remove rapidly growing, disfiguring or painful neurofibromas.
2. Rehabilitation and assistive devices: Covering the costs of physiotherapy, occupational therapy, hearing aids or special aids that are not fully covered by insurance.
3. ​Psychological support: Provision of psychotherapeutic support to help patients and their families cope with the challenges of chronic illness, stigma and social isolation.
4. ​Research support: Contributing to projects seeking new and more effective treatment methods or medicines.

Support patients with neurofibromatosis so they can lead fuller lives and alleviate the physical and psychological burden this insidious condition places on them.