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‘A diagnosis of neurofibromatosis 2 can be extremely scary’

Carolyn Redman is one of a handful of nurses caring for patients with the rare genetic disorder neurofibromatosis type 2, which affects the nervous system. She says the rewards of her specialist role are vast.
neurofibromatosis

Carolyn Redman is one of a handful of nurses caring for patients with the rare genetic disorder neurofibromatosis type 2, which affects the nervous system. She says the rewards of her specialist role are vast

Neurofibromatosis type 2 (NF2) is a rare genetic disorder that occurrs in an estimated one in 35,000 people.

The condition is often life-limiting and involves tumours growing on the nervous system, typically on the hearing nerves, brain and spine. While the tumours are mainly benign, they can lead to hearing loss, deafness and balance and mobility problems. Most patients will need surgery or other treatments for NF2-related brain or spinal cord tumours at some point in their lives.

In England, about 860 people have NF2 and about 38 people are newly diagnosed every

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Carolyn Redman is one of a handful of nurses caring for patients with the rare genetic disorder neurofibromatosis type 2, which affects the nervous system. She says the rewards of her specialist role are vast


NF2 involves often benign tumours growing on the hearing nerves, brain and spine. Picture: Alamy

Neurofibromatosis type 2 (NF2) is a rare genetic disorder that occurrs in an estimated one in 35,000 people.

The condition is often life-limiting and involves tumours growing on the nervous system, typically on the hearing nerves, brain and spine. While the tumours are mainly benign, they can lead to hearing loss, deafness and balance and mobility problems. Most patients will need surgery or other treatments for NF2-related brain or spinal cord tumours at some point in their lives. 

In England, about 860 people have NF2 and about 38 people are newly diagnosed every year.

Carolyn Redman, a specialist nurse practitioner for neurofibromatosis, is one of about 20 nurses in England working with patients with the condition. She is part of a clinical team that runs a weekly clinic in Oxford, managing both newly diagnosed patients and those living with the condition.

Specialist centres 

‘When people first get a NF2 diagnosis, it can be extremely scary,' she says.  'Most people have not heard of it before and as tumours are involved, they assume it is linked to cancer. To be told you have an unusual disease which can lead to deafness over time is frightening.’

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

As well as being rare, NF2 also affects people in different ways and Ms Redman says its unpredictability is particularly challenging. ‘While tumours are slow-growing, we cannot predict their impact. We cannot say to a patient that they will be deaf in 5 years, for example. But for the patient, it feels like a ticking time bomb.

‘My job is to help them make sense of their diagnosis, to understand the condition and to work out where they sit in the healthcare system. Making sure they can communicate as well as possible is also vital. Even simple things, such as working out which is their stronger hearing side and explaining that they can ask people to talk to them on that side is helpful.’

Since April 2010, NF2 care has been nationally commissioned in England, with funding for the service going from the national commissioning team to specialist centres in Oxford, where Ms Redman works part-time, as well as London, Cambridge and Manchester.

Better data 

While the number of clinicians working in the field is small, everyone knows everyone, says Ms Redman. ‘The specialist NF nurses are in touch with each other all the time. Outside of clinic, few people talk about NF2, but inside, it is all we talk about.’

Ms Redman, who first joined the specialty in 2003, says concentrating treatment in four centres has improved patient care.

‘Patients with NF2 have always had annual MRI scans, which are used to confirm a diagnosis, as well as access to surgery when required. But specialising care in four centres means we are better able to gather and analyse patient data. This enables us to provide patients with more joined-up care and better access to other services, such as physiotherapy and psychology services.’

As well as working with NF2 patients, Ms Redman, a former genetics counsellor, also sees patients with neurofibromatosis type 1, a common genetic condition occurring in 1 in 3000 of the population. This role is jointly funded by University Hospital Southampton NHS Foundation Trust and The Neuro Foundation, which supports patients with both NF1 and NF2.

‘Hugely satisfying’  

The symptoms of NF1 vary widely, with some people experiencing small changes to their skin, while others have mild learning difficulties. Ms Redman has a caseload of about 800 NF1 patients across Hampshire, Dorset, Wiltshire, West Sussex and the Isle of White, and receives referrals from a range of sources, including GPs, paediatricians, neurologists and schools.

She says: ‘The work with NF1 patients often involves explaining more about the condition, helping families get into their local genetics service so a diagnosis can be made and working with teachers to better help their understanding of the condition.’

This year she also set up a young people’s clinic to help smooth the transition from paediatric to GP care for those with NF1. 

‘When I started out, I wasn’t sure whether working within a small specialty would offer enough variability for career development. But it is hugely satisfying. I get to work with many families over long periods, as well as medics, teachers and social services. No two days are the same.’

Some NF symptoms

NF type 1: Café au lait spots, freckles in unusual places and neurofibromas on the skin.

NF type 2: Acoustic tumours (vestibular schwanommas) on both acoustic nerves, nervous system tumours typically in the brain and spine.

 


Tamsin Newton-Snow is a freelance health writer

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