Neurofibromatosis service

Providing diagnosis, management and ongoing care for our patients

Our service

We provide care for children and adults with complex and non complex neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. 

For information about our children's service, see the Evelina London Children's Hospital website.

NF1, NF2 and schwannomatosis are inherited conditions that have a major impact on the nervous system and can result in tumour growth.

We are the UK's leading centre for complex NF1, and one of 4 national centres for NF2. 

We are an internationally recognised centre for the diagnosis of malignant peripheral nerve sheath tumours in NF1, using PET/CT with glucose (fluorodeoxyglucose).  

Our neurofibromatosis specialists work across many areas. See our team page for more information.

Our clinical nurse specialists support patients when they come to clinic and are also available to give advice via telephone and email.

Clinical research

We are committed to the research of neurofibromatosis types 1 and 2, in collaboration with other national and international neurofibromatosis specialists. Current projects include:

  • improving the diagnosis of malignant peripheral nerve sheath tumours using methionine PET/CT (methionine forms body proteins)
  • sleep disorders – a significant problem in neurofibromatosis type 1
  • optic pathway glioma – we are currently evaluating the best way to diagnose and treat this tumour which can eventually lead to blindness in some patients with neurofibromatosis type 1
  • quality of life in neurofibromatosis– we are assessing the impact of complex inherited diseases on quality of life. This will help to evaluate the effect of new treatments.

Case study: body and mind

“We are always aiming to make things better for our patients, to help them become more independent,” explains physiotherapist Rebecca Mullin. She uses exercise to restore movement and function for her patients.

Rebecca found that some patients weren’t improving as quickly as she would have expected, because they found it difficult to commit to the exercises she had recommended they do in their own time.

Physiotherapist Rebecca Mullin with neurofibromatosis patient, Maria Whitefield.She explains: “They find it hard to keep their motivation up. It’s understandable – physio isn’t a ‘quick fix’, and some of the stretches can be uncomfortable, but they’re so important. Rehabilitation can often stop a problem from getting worse.”

Rebecca started to work with health psychologist Jess Walburn to find new ways of helping patients to commit to their rehabilitation. The initiative is part of the National Neurofibromatosis Service, based at Guy’s Hospital. With Jess’s insight and advice, Rebecca hopes that her patients will find the encouragement they need.             

It’s early days for the partnership between physiotherapy and psychology, but Rebecca and Jess are already seeing results. Rebecca says: “It is absolutely amazing to see someone walk on their own for the first time in years.”