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Neurofibromatosis (NF) is a genetic condition. This means it belongs to a group of health conditions that can be passed on in families from one generation to the next through the process of genetic inheritance.

NF is caused by a mutation (or spelling mistake) in one of the genes. About half of the people who have NF have no family history. In other words, it has occurred “out of the blue” with no-one else in the family being affected. This is called a spontaneous gene mutation. The other half of people will have inherited NF from their mother or father.

NF occurs in all races. It affects both men (and boys) and women (and girls) equally.

NF varies from one person to another even in the same family. Some people will be mildly affected with very few health problems. Others will have some serious health problems that mean that daily life is difficult and it restricts what they can do.

With a condition that varies so much, it is important to learn some basic facts about NF, and to understand when you need to seek help from your doctor.

Neurofibromatosis is in fact a term for a group of conditions affecting mainly the nervous system and skin. There are differences in the three main groups: Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2) and Schwannomatosis.

 

The Neuro Foundation complements the services already provided by the NHS and tries to ensure that all patients have access to health care appropriate to their needs.

Current NHS Service for people with NF

All children with a diagnosis of NF have health checks with a paediatrician throughout childhood. Once children reach adulthood, care is transferred to either their GP, Specialist NF Clinic or other hospital based doctor depending on their circumstances and health status.

National “Complex NF1” Service.

This is a nationally funded specialist service that aims to look after the health care needs of NF1 patients in England with rare complications that cause major health problems. There are two national centres and a multi-disciplinary team of senior doctors and nurses who co-ordinate diagnosis and long-term care of patients with complex NF1. Referral from your GP or local hospital doctor is needed to access this service; both centres also accept non-complex NF1 referrals. National funding arrangements are in place for these patients. Both centres will accept referrals from all over the UK, but patients who are not from England must have funding arrangements agreed beforehand.

The National NF2 Service

In 2010 a nationally funded service was established for patients in England with a diagnosis of NF2  The purpose of the service is to ensure patients are managed consistently and conservatively by experienced doctors within a multi-disciplinary setting and that they receive the highest standard of care. Patients from Scotland are also funded; patients from Ireland and Wales need to have agreed funding with support from their doctors.

The service is co-ordinated from four major clinic centres: Manchester, Cambridge, Oxford and London. Each centre has a clearly defined geographical area of responsibility and runs peripheral clinics within that area, contributing their expertise to ensure the same standard of service and care is maintained. There is a multi-disciplinary team of doctors and nurses supporting all the clinics. There is a single centre at Sheffield that undertakes radiation treatment where appropriate.