What is NF2?

Overview

Neurofibromatosis Type 2 (NF2) is a rare genetic condition that affects just 1:35,000 of the population. It involves the growth of multiple benign (non-cancerous) tumours throughout the nervous system, most commonly seen in the brain and spine.

The most common symptoms caused by NF2 include hearing loss, balance difficulties, facial weakness and vision issues. However, NF2 is an extremely variable and unpredictable condition, affecting different people in very different ways. It is, therefore, important to seek the advice of medical professionals at one of the UK NF2 specialist centres, these are: Addenbrooke’s Hospital in Cambridge, St Mary’s Hospital in Manchester, Guy’s and St Thomas Hospital in London and The John Radcliffe Hospital in Oxford. Please contact us if you need to get in touch with NF2 teams at any of these hospitals.

Further Information

NF2 is caused by a misprint in a single gene on Chromosome 22. The misprinted gene will be present at birth, but signs of the condition do not usually appear until the teenage years, twenties or later.

NF2 may be passed on from parent to child at the time of conception, or it may start in a family with no previous history of the condition. Generally speaking, a person who has NF2 has a 50% (or 1 in 2) chance of passing on the condition to each of his/her children. However, if the person affected with NF2 is the first person in their family to be affected, the risk may be lower. A geneticist or genetic counsellor in your NF2 team will be able to discuss the genetic risk when you are referred in to the NF2 service.

In someone who presents with symptoms suggestive of NF2, the disorder is usually confirmed by undertaking an MRI scan (Magnetic Resonance Imaging). An MRI scanner is a large tube that contains powerful magnets to produce detailed images of the inside of the body. The results of an MRI scan can be used to help diagnose conditions, plan treatments and assess how effective previous treatment has been.

In the UK, specialists may not suggest intervention on all tumours that can be seen on a scan, as often tumours are slow growing or may not change at all over many years. Instead, treatment may be suggested when there is a direct threat to the patient’s health or to their quality of life. This is because surgery or radiotherapy undertaken on tumours that are attached to our nerves can also has the potential to cause damage. Since NF2 became a nationally commissioned service in 2010, multidisciplinary teams – including neurosurgeons, ear, nose and throat surgeons, neurologists, geneticists, ophthalmologists (eye doctors), psychologists, specialist nurse practitioners and many more – were set up to ensure that NF2 patients living in the UK would receive appropriate specialist care which would help maintain the best quality of life for as long as possible.

Sources for reliable information and practical advice about NF2

Our Community is a free online forum for NF2ers, Family, Friends and Carers to connect, share experiences and practical advice www.canyouhearus.co.uk/what-we-do/ourcommunity

NF2 Information and Services supports the NF2 community through sharing medical information and services www.nf2is.org

The Children’s Tumour Foundation is an American charity working to develop treatments and cures for NF through vital research www.ctf.org

The Neuro Foundation is a UK based charity for people affected by NF www.nfauk.org

NF2 Specialist Centres in England

Cambridge http://www.cuh.org.uk/addenbrookes/services/clinical/neurofibromatosis_typeII/neurofibromatosis_typeII_index.html

Manchester http://www.cmft.nhs.uk/royal-infirmary/our-services/audiology/adult-hearing-services/specialist-services/nf2-clinics

Oxford http://www.ouh.nhs.uk/services/referrals/neurosciences/nf2/default.aspx

London http://www.guysandstthomas.nhs.uk/our-services/neurology/specialties/neurofibromatosis/overview.aspx

The NF Registry

If you or your child have NF1, NF2, or schwannomatosis, we need your help building NF “patient power.” The NF Registry was started by American based charity, the Children’s Tumor Foundation, in 2012 to do the following:

  • Let people know about new clinical trials (new potential treatments) for NF
  • Provide patients with facts and figures about the NF community as a whole
  • Learn how NF changes over a person’s lifetime
  • Help researchers understand what makes one person’s symptoms different from another’s
  • Better inform qualified NF researchers from all over the world about issues people with NF care about most

To join the registry and help to end NF please visit https://nfregistry.patientcrossroads.org/