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Clinic backs day highlighting ‘secret’ syndrome

09 May 2018
A specialised department at Cambridge University Hospitals (CUH) has welcomed plans for a dedicated day that highlights the incurable and little-known syndrome it treats.

Staff and patients at the NF2 service say World Neurofibromatosis Awareness Day on May 17th will increase understanding of the condition - and shine a light on valuable support services.

NF2, the abbreviated name for neurofibromatosis type 2, causes benign tumours to grow on the nerves responsible for hearing and balance.

Further tumours can also grow inside the brain (intracranial) or spine, as well as in the arms and legs, and can cause hearing loss, ringing or buzzing in the ears (tinnitus), sight loss, imbalance, peripheral neuropathy, pain and fatigue. It is a genetic condition which may run in families and is generally progressive.  There is no known cure for the condition.

NF2 affects one in 33,000 people and is much less common than Neurofibromatosis Type 1, which affects one in 3,000 births.

 The NF2 service, based at Addenbrooke’s Ear, Nose and Throat (ENT) department, is one of only four in England and sees patients across the East and Midlands region.

Its complex nature means the management of NF2 requires a multi-disciplinary team and it meets every month to discuss patients’ needs. It consists of ENT, neurosurgery, adult and paediatric neuro-oncology, genetics, neurology, nurse specialists, audiology, psychology, ophthalmology, plastic surgery and radiology. Patients are seen the same day in a specialist clinic held in the department. 

The severity of the condition varies between patients, but surgery, radiotherapy and the cancer drug bevacizumab are used for the management of intracranial and spinal tumours.
Patients are reviewed at least annually following an MRI head scan and three yearly spinal scan. They have annual hearing tests and treatment can include cochlear implantation and auditory brainstem implantation. 

The clinic hosts Monday ‘social support sessions’, which are run by Can You Hear Us?, a social enterprise dedicated to the needs of people affected by NF2, and provide a useful forum in which patients can exchange experiences, advice and further support.

The clinic, headed by surgeon Patrick Axon, is part of the hospital’s skull base service, which was highlighted as a beacon centre for skull base tumours following an external review in March as part of the Cancer Quality Surveillance Programme.

Skull base and NF2 nurse practitioner, Juliette Gair, said: “We welcome World Neurofibromatosis Day because it highlights a condition many are unfamiliar with, and draws attention to the support that is available to sufferers of both NF1 and NF2.

“Cambridge is exceptionally lucky to have the dedicated NF2 service and the different specialisms that feed into it. We also feel fortunate to have patients who are passionate about supporting each other through a social network.”

World Neurofibromatosis Day is being trumpeted by the London-based Neuro Foundation, a charity which has “a vision to improve and support the lives of those affected by neurofibromatosis”
It says: “Sadly, many people are unaware that the condition even exists, let alone the impact it has on those living with it. Despite it being more common than Huntington’s disease, cystic fibrosis and muscular dystrophy combined, many medics, politicians, and other healthcare professionals have never heard of the condition. 

“This can be seen as a contributing factor to low funding, and in turn a shortfall in service and support.”