NF2-related schwannomatosis (NF2)

Overview of NF2

This leaflet is for patients and relatives who use the NF2-related schwannomatosis (NF2, formerly known as neurofibromatosis type 2) service based in Cambridge. This leaflet aims to provide you with basic information about the service, the people that you may meet and interventions or treatment that may be offered to you.

What is NF2?

NF2 is a rare disease caused by a misprint of one of our genes. It is present from birth, but signs of the disease do not usually appear until several years later. In some cases, you may be the first person in your family to be diagnosed with NF2 (de novo), or in other cases you may be aware of other people within your family who also have the condition. NF2 is characterised by benign (non-cancerous) tumours that occur on nerves within the body, in particular on both balance and hearing nerves (known as vestibular schwannomas or acoustic neuromas). This can cause deafness and balance issues over time. Other benign tumours may also grow elsewhere in the body such as on the lining of the brain and spine (meningioma); and under the skin (peripheral schwannoma). Some people with NF2 also have cataracts or problems with vision from a young age. We are able to provide you with detailed written information about NF2 if you would like to know more. Our website address is: Neurofibromatosis type II (NF2) service

The Neurofibromatosis Type 2 NHS website (opens in a new tab) also provides information on NF2.

The Midlands/Eastern NF2 service

Cambridge University Hospitals NHS Foundation Trust has been designated as one of the four specialist centres along with Manchester, GSTT in London and Oxford for the management of NF2 by the NHS England Highly Specialised Services, the part of the NHS that deals with organising care for people with rare diseases. This centre is based in Cambridge, and looks after people in East Anglia and The Midlands. It means that people who have been diagnosed with NF2 have access to a team of people with the specialist knowledge and experience necessary to provide the best care.

We hold the NF2 team meeting and outpatient clinic on the second Monday of each month. There is an additional NF2 neurology clinic on the third Friday of each month. In addition to the service provided at Cambridge, satellite clinics run in Birmingham (nine times a year), Nottingham (once a year) and Leicester (once a year) for suitable patients and we can provide you with more information about this as required. The specialist nurses attend the satellite clinics and will be able to answer any questions that you may have.

We review all NF2 patients in the outpatient department at least annually. Some appointments may be held over telephone or video where appropriate.

You will need regular hearing and neurological assessments, scans of the brain and spine, balance tests and eye examinations. Many of the tumours seen on scans in NF2 may never grow enough to cause symptoms and can be managed with regular check-ups. It is your choice as to whether you undergo any treatment offered by the NF2 team or not.

We are sometimes able to arrange appointments with the plastic surgery department and the eye team on the same day as your NF2 appointment in Cambridge if we know they are needed in advance. It may be necessary to arrange eye follow-up appointments separately due to the specialist equipment required.

If you have any special requirements, we will endeavour to accommodate you. Please let us know in advance if you require accessibility or communication support for your appointment such as BSL interpreting, lip speaking or speech to text translation.

Meet the team

We hold a monthly NF2 multidisciplinary team meeting in Cambridge. This enables all of the team to work together to discuss the best treatment plan before seeing you in clinic later the same day. The multidisciplinary team involved in the NF2 service are:

• Patrick Axon, Consultant Skull Base and Hearing Implant Surgeon, Clinical Lead for NF2 Midlands and Eastern Region
• Juliette Buttimore, Nurse Consultant, Skull Base and NF2, Clinical Lead for NF2 Midlands and Eastern Region
• Neil Donnelly, Consultant Skull Base and Hearing Implant Surgeon
• James Tysome, Consultant Skull Base and Hearing Implant Surgeon
• Daniele Borsetto, Consultant Skull Base and Hearing Implant Surgeon
• Richard Mannion, Consultant Neurosurgeon
• Mathew Guilfoyle, Consultant Neurosurgeon
• Rikin Trivedi, Consultant Neurosurgeon
• Raj Jena, Consultant Clinical Oncologist
• James Nicholson, Consultant Paediatric Oncologist
• Brinda Muthusamy, Consultant Ophthalmologist
• Richard Price, Consultant Plastic Surgeon
• James Whitworth, Consultant Clinical Geneticist
• Amy Taylor, Consultant Genetic Counsellor
• Anke Hensiek, Consultant Neurologist
• Nicola Gamazo, Skull Base and NF2 Nurse Practitioner
• Richard Knight, Clinical Scientist (Audiology)
• Tamara Lamb, Senior Audiologist
• Zebunnisa Vanat, Clinical Lead - Adult Hearing Implants Programme
• Karine Edme, Clinical Psychologist
• Caroline Kelly, Physiotherapist

Location

The Addenbrooke’s Hospital, Cambridge clinic is situated in Clinic 10 on level 2 in the outpatient block. Parking is available in the main hospital car park with a fixed price for attending outpatient’s appointments. These concessionary tickets are available from the customer service desk in the main Hospital car park (located at the car park exit). Proof of appointment(s) will be required. There is also parking available at off-site Park and Ride Facilities. If you are parked in the main hospital car park and need assistance with transport to your appointment, a courtesy bus is provided every 10 minutes between 07:30 (7:30am) and 16:00 (4pm). The courtesy bus stops outside the main entrance to the outpatients hall, and can accommodate one wheelchair at a time.

If you are attending a satellite clinic, details of your appointment will be sent to you by the relevant hospital.

Interventions

Clinical genetics

Our genetics team can help to make an accurate diagnosis and explain how NF2 is inherited. They will discuss whether you would like to have a genetic test, which is usually done by taking a blood sample. They will be able to explain what these results mean for your family and may also be able to offer them genetic testing. Alternatively, we may offer them a hearing test or MRI scan of the head to look for any signs of NF2. We can also talk to you about planning a family, and what options are available to you for prenatal testing. There is no obligation to have genetic tests; decisions about this will always be left up to you.

Ophthalmology

On diagnosis of NF2, you will be referred to the Ophthalmology (eye) department and then reviewed as necessary. This is to check for any NF2 related eye signs such as cataracts (clouding of the lens inside the eye).

Neurology

In the NF2 clinic, we conduct neurological assessments in order to formally determine disability and current neurological problems and symptoms. Our neurologist can help to manage certain symptoms that can occur in NF2, for example pain, spasticity, headaches or epilepsy. Our neurologist will involve other members of the neurological team (for example speech and language therapists, physiotherapists, epilepsy specialist nurse, and the Botox clinic) if indicated. These assessments are useful for guiding decisions on treatment options and for more formally determining the disease progression of individual patients.

Radiology

As part of the NF2 service an MRI scan of your head will be done every year and an MRI scan of your spine approximately every three years to monitor for any tumour growth. It is necessary for a dye (contrast) to be injected into a vein to brighten the scan pictures. Unfortunately, we cannot usually offer the MRI appointment at the same time as your outpatient appointment. This is because it is better for us to have the results and your scans when we discuss your case in our team meeting before we meet you. If you have a cochlear implant or an auditory brainstem implant, we will inform the MRI department so that appropriate safety precautions can be taken. Local anaesthetic can be given if necessary and this will be discussed with you.

Nurse practitioners

As part of the NF2 service in Cambridge, there are two nurse practitioners. They are involved in co-ordinating the clinic and appointments and act as a link between the centres and local services. They are able to talk to you about NF2 and what it means for you and your family. They offer support and information to those newly diagnosed or in times of acute need throughout the year, and you do not need to wait for your appointment to contact them.

Please do not be afraid to contact the nurse practitioners to discuss emotional, social or physical problems associated with your NF2 diagnosis – they will be familiar with the problems you encounter and will be supportive. They can help to signpost you to additional sources of information, and assist with supporting information for applications for blue badges and disability benefits. If you would like to see the nurses separately from the medical team after your outpatient appointment, please let one of the clinic nurses know and we will arrange this.

The nurse practitioners can occasionally offer a home visit if you are unable to attend the clinic for any reason, please discuss this with the nurse practitioners if you feel this would be useful for you.

Psychology

The NF2 service has clinical psychology in the team one day a week. The psychologist is able to offer support with managing feelings and emotions around NF2. For example, following diagnosis, talking about how NF2 might impact on day to day life, work and relationships, preparing for procedures or coping with symptoms. This might be through a one-off meeting in clinic or more regular appointments outside of the NF2 clinic times. Psychology support can be offered in the form of in-person appointments or video or phone sessions from your home. The support can be directly for you but might at times include some family members or other significant others in your life. Where appropriate, the psychologist can provide information about or refer to local services. Psychology appointments can be arranged by contacting one of the NF2 nurse practitioners and can often be co-ordinated with other outpatient appointments where patients have a long distance to travel.

Quality of life questionnaires

In order to see how NF2 is affecting you, and to see which services we offer that could help with your symptoms of NF2, we give out questionnaires to every patient we see in clinic. This asks about your hearing and balance, and other common symptoms of NF2. We also ask you about your emotional wellbeing. As part of the NHS Specialised Services contract we have to complete this for every patient.

Audiology

Hearing tests

We may offer you hearing tests called a PTA (pure tone audiogram) and SDS (speech discrimination score) prior to seeing you in your outpatient appointment. This enables us to see how your hearing is being affected by NF2, and how you are able to communicate with other people. If appropriate, we may offer you further assessments with our audiologists or have a discussion with you about hearing implants.

Hearing aids

Audiology reception: 01223 217797
Email Audiology

If you are identified with a hearing loss in the NF2 clinic we will discuss your suitability for NHS digital hearing aids and assistive listening devices. We will see you for a full assessment to discuss your individual hearing needs. NHS hearing aids are usually fitted behind the ear, and we will show you what is appropriate for your particular loss. You may be fitted here at Addenbrooke’s or at your nearest Audiology Department if you prefer.

Hearing rehabilitation

Our hearing therapist is able to offer advice to hearing implant users on equipment, adjustment to using hearing aids or hearing implants, communication strategies and support for deafness.

Single sided deafness (SSD) clinic

A hearing loss which affects primarily or solely one ear tends to bring a particular set of hearing difficulties, typically with difficulty hearing sound from one side but also increased difficulty hearing amidst background noise and impaired ability to tell where sound is coming from. The Audiology Department at Addenbrooke’s Hospital has a dedicated clinic for this particular pattern of hearing loss.

Tinnitus

For patients with NF2 who are troubled by tinnitus (an umbrella term for perceiving any sounds which are not genuine external sounds) there are various approaches which may be employed with the aim of reducing the impact that the tinnitus may have. We can arrange appointments to explore this.

Balance and mobility

Vestibular assessments

Some people with NF2 find that they have problems with their balance due to how the disease can affect their hearing, balance function and eyesight. In order to investigate your balance further, we can arrange for a vestibular assessment in which we conduct a range of tests which thoroughly assess different aspects of your balance.

Vestibular rehabilitation

Any changes to balance function such as those caused by NF2 can result in sensations of imbalance or dizziness on movement. The aim of a vestibular rehabilitation appointment is to design some exercises which retrain the balance system to make the best use of remaining balance function. Strategies for dealing with difficult environments for balance can also be discussed.

Physiotherapy

There is a physiotherapist available at the NF2 clinic who can help you to access treatment and advise on exercise to maximise your function. This may include advice on your balance, your spine, arm or leg weakness or mobility. The physiotherapist may refer you on to other relevant health care professionals, such as occupational therapy, orthotics for splinting and insoles and community physiotherapy services.

Speech and language therapy

Speech and language therapists (SLTs) assess, manage and support people with communication and swallowing difficulties experienced by people with NF2. These are generally associated with lower cranial nerve damage. At Addenbrooke’s, we have SLTs who specialise in both of these areas. We can give information to you and your family and provide therapy and support to help with your communication and/or swallowing as needed.

Raised ICP (intracranial pressure) and pulsatile tinnitus

Patients can occasionally experience headaches and a pulsating noise in the ear that is caused by a rise in pressure inside the head. This is often irritating but not life-threatening. We have a team dedicated to the management of these conditions.

Management of spinal lesions

Looking after the spine is a key component to the management of those with NF2 and all our patients undergo surveillance of the spine through clinical assessment and intermittent MRI scanning to monitor the situation over time. Those with spinal problems are assessed in the multidisciplinary clinic by a neurosurgeon and a neurologist with a special interest in NF2 and complex spinal disease.

Management of peripheral lesions

Some people with NF2 have benign tumours that grow on other nerves around the body. This can sometimes cause problems with limb function, sensation or pain. The team will assess any related symptoms in clinic and may arrange additional scans or review with a peripheral nerve surgeon to assess whether any intervention is required.

Facial palsy/reanimation

The facial reconstruction service provides a number of options for the correction of the facial weakness that can sometimes occur with NF2 or following surgery. Depending on how you are affected, you may be offered a number of treatments to help protect your eye, and to reposition the face if it falls. In some cases these treatments will allow you to actively move your face; in others, they will simply reposition the face. In either event, we expect to be able to help you with your facial appearance and function.

Treatments used in NF2

Surgery

The Cambridge NF2 team has a great deal of experience looking after patients with skull base and spinal tumours. It is one of the largest skull base units in Europe and is happy to share its outcome data with you. Due to the specialist nature of some NF2-related surgery, it may be that some surgery can only be offered in Cambridge; however the team will be able to discuss with you whether there is an option to have surgery in one of our satellite centres where appropriate.

Tumour surgery

Occasionally, it is necessary to remove a growing tumour to prevent serious complications or to maintain nerve function. The decision to operate is taken very seriously and is made after a lengthy team discussion and only with the agreement of the patient and their family.

The most common operation for those with NF2 is excision of a vestibular schwannoma and you will be provided with full information surrounding the surgery should this be necessary for you.

Tumours on the surface of the skin (peripheral schwannomas) rarely cause problems but can be uncomfortable. If you are experiencing pain or discomfort, these can often be removed.

Cochlear implantation

NF2 often results in progressive bilateral hearing loss, even if there is no growth in the tumours of the hearing and balance nerve. If this is the case, it might be possible to insert a cochlear implant. A cochlear implant is an electronic device that is inserted under the skin behind the ear and has an electrode array that is placed inside the cochlea (the inner ear). This procedure has been shown to improve hearing even in the presence of a vestibular schwannoma.

Occasionally, it is possible to consider a cochlear implant after vestibular schwannoma removal. The decision is usually made after careful testing to make sure the hearing nerve is still functioning. More information about cochlear implantation can be supplied if required.

Auditory brainstem implantation (ABI)

Occasionally, patients require the removal of a growing vestibular schwannoma. If that is the case then the hearing nerve is usually divided in order to remove the tumour completely. The only way of restoring some hearing on that side is to insert an ABI. This is an implant that has an electrode array that sits on the cochlear nucleus which is in the brain stem. The NF2 team might suggest that an ABI is inserted even though you have reasonable or good hearing in the other ear.

The reason for this is that the best chance of success is often at the first operation and it is also possible that hearing in the other ear might deteriorate over time. The ABI does not give a return of hearing, but gives an awareness of certain environmental sounds and is an aid to lip-reading. If an ABI is proposed, the reasons will be discussed with you.

More information can be supplied by the Hearing Implant team if an ABI is being considered. ABIs can only be inserted in specialist NF2 centres, so you will need to come to Cambridge for this surgery.

Radiotherapy/radiosurgery

In some cases for people with NF2 with a growing tumour, radiotherapy may be discussed. This may be in the form of one or a few treatments (stereotactic radiosurgery or fractionated stereotactic radiotherapy) or fractionated radiotherapy, which takes place over several weeks. The aim of radiotherapy is to stop tumours growing, but unfortunately it is not suitable for all tumours. Radiotherapy or radiosurgery are usually given via centres in Cambridge, Birmingham or Sheffield.

Occasionally, an NF2-related tumour may be suitable for proton beam therapy. The team will discuss this with you if this is felt to be a good treatment option. Proton beam therapy takes place in Manchester and London.

Bevacizumab (Avastin)

Bevacizumab was first shown to help people with NF2 in 2009 where it was found to stabilise or reduce the size of vestibular schwannomas and, in some cases, improve hearing. Additional research in 2017 suggests that patients with symptomatic cystic spinal cord ependymomas may obtain clinical benefit from treatment with bevacizumab.

Bevacizumab has currently been funded for treatment by NHS England provided that strict criteria are met. We can discuss this with you in your outpatient appointment if you would like more detail.

Trials

The NF2 team will discuss any relevant trials open to you at your appointments. If you wish to know more, you are also welcome to discuss this with the nurse practitioners.

Patient experience and PPI (patient and public involvement)

We are keen to hear what you have to say about the service and where possible wish to involve patients and their families or carers in service development so that we can provide the best possible patient-focused care. An annual survey is sent out to all those who access the NF2 service, however if you have views about how we provide our NF2 service, the information that we give to people with NF2, or the facilities and environment of the hospital then we would welcome your views in person, or via post, phone or email at any time.

We also like to include users of the service as formal patient representatives for our review meetings and to help us review our documentation and patient information. You do not have to be a patient to be a representative for the NF2 service. Please inform the nurse practitioners if you are interested in this role.

Transport and help with finances

The Healthcare Travel Costs Scheme (HTCS) is part of the NHS Low Income Scheme and will provide a full or partial refund for necessary travel costs if you are in receipt of certain benefits or have a low income. You can apply for an eligibility assessment by using an HC1 'Claim for Help with Health Costs' form. Up-to-date information is available at Help with travel.

Citizens Advice are a useful resource that provide free, independent, confidential and impartial advice, and will be able to advise you on what benefits you may be entitled to. They can be found at Welcome to Citizens Advice (opens in a new tab).

Please speak with the nurse practitioners if you require further information on transport or benefit advice.

Support from other organisations

Nerve Tumours UK

Nerve Tumours UK provides support and information, as well as campaigns and raises awareness on behalf of over 26,500 people in the UK who have neurofibromatosis (NF1 and NF2) and schwannomatosis. They are here to improve lives for people with nerve tumours by making sure those affected have access to the help they require.

Website: Nerve tumours UK (opens in a new tab)
Helpline: 0208 439 1234
Email Nerve Tumours UK

RNID

RNID aim to make day-to-day life better for people who are deaf or who are hard of hearing or who have intrusive tinnitus. The RNID website (opens in a new tab) includes lots of useful information on communication equipment, your rights and help with benefits and services, and you can call their information helpline on 0808 808 0123, or Email RNID. Also, online chat and video calls with British Sign Language (BSL) can be accessed via the RNID website.

Can You Hear Us? (CYHU)

CYHU is a social enterprise dedicated to the needs of people with NF2. Our books ‘NF2: Our Journeys’ and ‘Living with NF2: From us to you’, have helped raise awareness and support for those living with NF2. CYHU have developed an online community forum and hold informal social gatherings.

CYHU aims to reduce the effects of isolation and build resilience by supporting, empowering and uniting people with NF2.

There is a series of useful video podcasts available via our YouTube channel 'NF2 and You'.

There are patient only and family/carer support groups on Facebook where you can meet others with NF2 and their families. These can be accessed on the Can You Hear Us? Facebook page (opens in a new tab).

Website: Can You Hear Us? (CYHU) (opens in a new tab)

Hearing Link

Hearing Link is a UK charity for people with any level of hearing loss, their family and friends. It helps people to find information and support and to connect with others who have similar experiences. The charity focuses on giving people knowledge, skills, and confidence so they can manage the practical and emotional challenges hearing loss can bring. If hearing loss is affecting your life as a result of neurofibromatosis type 2, they can help you find ways to adjust and manage.

Website: Hearing Link (opens in a new tab) – Telephone/Text: 01844 348111 – Email Hearing Link

NF2 BioSolutions

NF2 BioSolutions are a non-profit, patient led organisation seeking a cure or preventative treatment for NF2 by vigorously supporting and advancing existing and next-generation biomedical technologies such as gene therapy and immunotherapy. They envision a world where those living with NF2 will have access to cutting-edge solutions to live full and productive lives free from daily physical and emotional pain or suffering.

The UK ambassador/chair is Clare Goddard, who can be reached via email.

Website: NF2 BioSolutions (opens in a new tab)

Contacts and further information

• Clinic 10 main reception: 01223 257176
• NF2 appointments and queries: 01223 805128
• NF2 nurse practitioners: telephone 01223 348672 or text 07752 562927 / 07514 622138
• Email the NF2 service
• Email Juliette Buttimore
• Email Nicola Gamazo

The telephone/text/email services are for non-urgent messages only, and will only be checked on working days. If you have an urgent health problem, please contact your usual healthcare services such as your GP, NHS 111 or your local emergency department services.

Please note that we can only discuss your plan of care with you via email if you have consented to allow us to do so. If you would like to do this, please ask and we can provide you with the details.

Privacy and dignity

Same-sex bays and bathrooms are offered in all wards except critical care and theatre recovery areas where the use of high-tech equipment and/or specialist one-to-one care is required.