Frequently Asked Questions

Our answers to the FAQ's are either vetted by a member of our Medical Advisory Board or answered by our Support Specialists. We go to every length to ensure medical accuracy. 

We also maintain the Nerve Tumours UK Helpline for the specific purpose of answering questions and providing support – we will always recommend you check your facts with a Specialist as new research crops up regularly!

You can reach our helpline every Monday, Wednesday and Friday on 07939 046030 or email helpline@nervetumours.org.uk.

NF1

General NF1 FAQ

Can NF1 turn into NF2?
Is NF1 linked to depression?
What benefits are available to people with NF1?
Is Selumetinib available for use in the UK?  

Families & Children with NF1 FAQ

We have no family history of NF, so why has my child been diagnosed with it? How has this happened?
Is there a link between NF1 and poor behaviour or learning problems in children?
We’ve been told that our baby may have NF1, but we are waiting for a diagnosis. Why must we wait? 
Our child has NF1 and starts school soon. What should I tell his teachers?

Healthcare in NF1 FAQ

Should everyone with NF1 have regular MRI scans?
Can Optic-pathway Glioma be missed by current screening techniques?
My primary care trust has recently refused funding for me to have more neurofibromas removed by laser treatment. What can I do?
Is it true that if you have a neurofibroma removed, two will grow in its place, so you should not have them removed?

NF2

Healthcare in NF2 FAQ

It seems that Avastin is prescribed for people with NF2 in the USA, but not so much in the UK. Is there a reason for this?
My NF2 is managed by one of the specialist NF2 centres; how can I ensure that my GP and local doctors understand my care needs in between appointments?

Adult Life in NF2 FAQ

What benefits are available to people with NF2?
Life is hard since I’ve lost my hearing, I struggle to follow conversations. Please help!

Families & Children with NF2 FAQ

I have been diagnosed with NF2, and wish to start a family. How can I talk to someone?

 

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NF1

General NF1 FAQ

Can NF1 turn into NF2?
No. They are completely separate and different conditions. NF is the group name for Neurofibromatosis Type 1 (NF1), NF2-related-Schwannomatosis (NF2) and Schwannomatosis (SWN) - a group of conditions that cause lumps (or what doctors refer to as “tumours”) to grow along nerves. Doctors now understand that NF1 and NF2 are quite distinct from one another. 

Is NF1 linked to depression?
Recent studies of NF1 have examined the incidence of psychological distress, including clinical depression, in NF1 patients. The majority of research has tended to focus on the physical problems linked to the diagnosis itself or the associated learning and behaviour difficulties. Studies that consider the emotional impact is fewer. However, these studies have suggested that there is a higher than expected incidence of psychological distress in NF1 patients.

Explanations as to why this may be have identified the burden of having a long-term health condition, the unpredictability of NF1 coupled with the underlying worry that a small health change may be significant. Depression and anxiety are therefore related primarily to illness adjustment disorder which is common in chronic unpredictable conditions. In addition, people with NF1 often have a poor school experience, underachieving academically, losing their confidence and feeling socially adrift. These studies also found that if depression is identified and treated, patients with NF1 improve. Adults with NF1 often find ways to cope with life that enable them to manage their situation more constructively, playing to their strengths rather than highlighting areas they find more difficult.

What benefits are available to people with NF1?
Eligibility for government benefits is difficult to define in an answer like this. We suggest you call the Nerve Tumours UK helpline or email them for more information. However, you may be eligible for the Personal Independence Payment (PIP) benefit.  You must be over 16, and under 64, have mobility issues or struggle with daily living for over 3 months, and expect these difficulties to continue. More information can be found here: https://www.gov.uk/pip/eligibility

For children under 16, the government offers the Disability Living Allowance (DLA) which requires that the child is a) under 16, and b) “has difficulties walking or needs much more looking after than a child of the same age who doesn’t have a disability”. More information can be found here: https://www.gov.uk/disability-living-allowance-children but we also suggest calling our helpline service or emailing them. 

Is Selumetinib available for use in the UK?  

Research carried out by our colleagues in the USA has shown Selumetinib reduces the size of plexiform neurofibromas in about 70% of children with NF1.  The results of a recent study of fifty children taking Selumetinib twice a day in tablet form, show some clinical benefit as well as some shrinkage of the plexiform neurofibroma.  Children and their parents noted that symptoms of pain, disfigurement, quality of life and muscle strength improved.  The side effects of the drug continue to be skin rashes and infection, and nausea, vomiting and diarrhoea. Further research is needed to find out which plexiform neurofibromas will benefit most from Selumetinib treatment.

In the UK, Selumetinib is now licensed for use on children. A national pathway for care is currently being devised. It is available for adults on compassionate basis only, via the national centres in London and Manchester.

 

Families & Children with NF1 FAQ

We have no family history of NF, so why has my child been diagnosed with it? How has this happened?
This is not unusual. About half of people with NF have inherited it from a parent. The other half have no family history so they are the first person to be affected. This is a chance event, what the doctors call a spontaneous gene mutation. In other words, the gene responsible for causing NF has a “spelling mistake” or “misprint” in the genetic code. Many genetic conditions occur in this way.

Is there a link between NF1 and poor behaviour or learning problems in children?
The short answer is yes. This is well documented! A high proportion of children with NF1 struggle with learning in school. Areas of difficulty include poor attention, poor working memory (short-term memory), difficulty with processing information, and co-ordination problems. Children can be mislabelled as lazy or naughty so it is important to ensure teachers have accurate information about NF1 and they understand the areas of learning your child finds difficult. To help you to get the right help for your child please look at our website, following the links from the NF1 Hub. There are several information sheets that you can download and hand to your child’s teachers. This should support you with getting the help your child needs. Some children may have difficult behaviour. Again, our website offers suggestions and advice. A higher proportion of NF1 children have a secondary diagnosis of ADD (attention deficit disorder) or ADHD (attention deficit hyperactivity disorder) compared to the non NF1 population. About 25% of NF1 children also have autistic spectrum disorder (ASD). These conditions can be supported by adjustments within school. 

We’ve been told that our baby may have NF1, but we are waiting for a diagnosis. Why must we wait? 
When a doctor suggests NF1 as a possible diagnosis, parents will understandably feel upset and worried, especially if they have not heard of NF before. It is most likely that the doctor is waiting for further signs of NF1 to appear. One of the first signs of NF1 in a child is café au lait patches on the skin(flat brown birthmarks). If either the child’s mother or father also has NF1 the diagnosis is confirmed. However, half of people with NF1 are the first person in the family to have the condition. In this situation, the doctor looks for another sign such as freckling in unusual places: the armpit and the groins. This second sign develops in time, usually before a child is 5. Very rarely the doctor may suggest a blood test if there is still doubt. Until the doctor can be sure, they will suggest that they continue to offer health checks as if the baby does have NF1.

Our child has NF1 and starts school soon. What should I tell his teachers?
How to handle this step varies from one family to another. Some parents prefer to see how their child manages without revealing the diagnosis, fearing they may be “labelled” in a way that singles them out as different. Other parents believe that it is sensible to inform the teaching staff of the diagnosis at the outset so that if there are problems in school these will not be overlooked. If there are particular health concerns for your child, then the school needs to know so they can take this into account during the school day. Some children with NF1 have learning difficulties which need to be recognised and supported. Linking this to a medical diagnosis helps to explain why a child may be struggling in some areas of their learning. For example, if a child has problems with their co-ordination, they may find their handwriting is poor. This will need support from other resources to improve it, or even alternative recording methods if it persists. If there are problems in school, an NF Specialist Advisor can help you to talk to teaching staff and may be able to attend a school meeting with you. There are further support materials available for teachers in our NF1 “Support for Teachers” sections.

Our child has multiple café au lait marks, and freckling in the armpit. Should we be asking for genetic testing?
This is a really important question and one we are trying to work out – until recently we have made the diagnosis of NF1 on clinical grounds. We know that at least 95% of children with six or more CAL will go on to develop typical NF1. Until recently the lab tests for NF1 only detected 60-70% of the gene changes and so a normal result did not mean you did not have NF1. However, things are changing, and we now have NF1 gene tests which can identify the gene change in 95% of people. We also have the "NF1-like" syndrome caused by an entirely different gene, SPRED1 on chromosome 15. The most likely thing is that your son has typical NF1. Most cases of Legius syndrome will have a parent with multiple CAL. You should chat over the pros and cons of gene testing with your geneticist or paediatrician.

Healthcare in NF1 FAQ

Should everyone with NF1 have regular MRI scans?
This is a difficult area because it has huge cost implications at a time when the NHS is struggling to meet current healthcare demands. In other countries such as the USA, scans may be offered more readily because a proportion of people pay for healthcare and their insurance funds this. The system is different here. There are about 25,000 people in the UK with NF…so that would be an awful lot of scans.

Doctors here tend to offer scans as part of an escalating process of investigation of a patient’s symptoms. The doctor makes a judgement about whether this is needed or not. So initially the doctor may perform some physical checks, ask questions, do blood tests, test how nerves are working to assess if they are functioning correctly. When examining children the doctor would hesitate to do a scan because young children need to have a general anaesthetic to ensure they remain absolutely still. This is not without risk.

If a scan is undertaken it can sometimes show up an unexpected finding which can then cause patients unnecessary worry. It may also mean that the doctor would have to arrange another scan to determine whether a lump had changed or not. In NF1 an MRI is used when the doctor is seeking clarification of something… in other words, they have a question to ask the MRI scan. If you scan routinely this can lead to false reassurance or cause needless anxiety for unrelated findings. Some centres do offer baseline scans to consider disease burden but the most important thing is to seek help with unusual symptoms or changes in health.  

In NF2 almost all patients will have MRI scans at intervals to assess their tumours because these grow in the brain and spine and only an MRI scan can accurately determine the size and volumetric changes.

Can Optic-pathway Glioma be missed by current screening techniques?
Optic glioma (sometimes called optic pathway glioma or OPG) is a swelling on the eye nerve. It is found in about 15% of children with NF1 but only approximately 5 - 7% have symptoms. An optic nerve tumour tends to occur before a child is aged 7. 

The problem in detecting OPG is that young children do not complain about visual loss. A child with OPG may present with other symptoms such as a squint or early puberty. Further tests will be made to establish the cause of this. The best method of detection for OPG is by at least annual vision testing until age 7.

At present in the UK all children who have a diagnosis of NF1 or who may be at risk of inheriting NF1 from an affected parent are referred to a hospital-based eye doctor (ophthalmologist) for annual eye checks until they are 7 years old. After that, they usually see a high street optician for their checks.

Adults with NF1 should have a visual assessment by an optician every 2 years. If you have concerns about changes in eye health (such as new symptoms or reduced vision) you should see your doctor for advice. Further investigations such as an MRI scan may be suggested. New OPG in asymptomatic adults with normal vision does not require treatment.
In conclusion, therefore, it is possible for an OPG to be missed if a swelling on the eye nerve grows between eye appointments for example. Parents should be aware of unusual health changes that should prompt them to seek advice from their doctors. 

Is it true that if you have a neurofibroma removed, two will grow in its place, so you should not have them removed?
Absolutely not true! If properly removed they should not recur. However, people tend to get more neurofibromas as they get older and incidentally they might occur in the same area.

 

Adult Life in NF1 FAQ

My primary care trust has recently refused funding for me to have more neurofibromas removed by laser treatment. What can I do?
If there are problems with funding, then you need to first discuss it with your GP and/or Consultant. If this fails every hospital has a Patient Advice and Liaison Service (PALS). If you are still struggling, then the next people to involve are the Independent Complaints Advocacy Services (ICAS). The number for your area can be found on the NHS complaints procedure part of the Department of Health website… or if you Google ICAS the service comes up about 10th on the search.

The first thing to say is what someone with NF1 needs is a good opinion from a Dermatologist (skin Doctor) who specialises in skin surgery or a plastic surgeon. Some of you will remember the days when most Doctors were very unsympathetic to people asking for neurofibroma removal. People were often told: ‘There is no way I can remove them all, you will have to learn to live with it’. Fortunately, things have changed since then and now most plastic and dermatological surgeons will offer to remove the most obvious/troublesome lesions.

We also need to remember that there is nothing magical about laser treatment. The laser is simply used as a means of cutting the skin to remove the neurofibromas. The most skilled Doctors will use the laser for some neurofibromas and the scalpel for others depending on their size/location/shape etc. Some Doctors now offer people the chance of a general anaesthetic so the patient can have multiple neurofibromas removed in one session.

With regard to funding, because of the limitations of the NHS budget, a lot of PCTs are cutting back on paying for ‘lumps and bumps’ being removed for cosmetic reasons. However, if your Doctor makes sure to stress the underlying diagnosis and the lifelong risk of developing more neurofibromas the treatment should be funded.

NF2

Healthcare in NF2 FAQ

It seems that Avastin is prescribed for people with NF2 in the USA, but not so much in the UK. Is there a reason for this?
The reason we are sticking to very strict criteria for Avastin is because in the NHS we can only get treatments funded for which there is very definite evidence that the drug works. When we first looked at this with Dr Kenny, our Medical Advisor at the National Specialist Commissioning team, there was evidence that Avastin works best for rapidly growing schwannomas and this is why we said that the vestibular or other symptomatic schwannomas had to be growing by 5mm in diameter per year; or to have had a >80% increase in volume. Using these criteria, all the people we have treated in Manchester have shown a good response to treatment. Also, the initial agreed treatment period was for six months. At the recent national NF2 service meeting we looked again at all the Avastin data. Dr Plotkin in Boston also kindly sent us all their clinics most recent results on drug side effects, long-term treatment etc. 

My NF2 is managed by one of the specialist NF2 centres; how can I ensure that my GP and local doctors understand my care needs between appointments?
If you are attending one of the specialist clinics your health care will be well monitored with scans at agreed intervals. If you are concerned about any matter affecting NF2 you should be able to contact that clinic directly and have information about how to do that.

The doctors at these clinics circulate copies of their letters to other doctors involved in your care so that everyone is clear about the status of your health and the plan. This is routine information sharing. Some patients also receive a copy. If you have any further concerns please feel free to reach out to our helpline, and we can guide you in further detail. 

Adult Life in NF2 FAQ

What benefits are available to people with NF2?
Eligibility for government benefits is difficult to define in an answer like this. We suggest you call the Nerve Tumours UK helpline or email them for more information. However, you may be eligible for the Personal Independence Payment (PIP) benefit.  You must be over 16, and under 64, have mobility issues or struggle with daily living for over 3 months, and expect these difficulties to continue. More information can be found here: https://www.gov.uk/pip/eligibility

For children under 16, the government offers the Disability Living Allowance (DLA) which requires that the child is a) under 16, and b) “has difficulties walking or needs much more looking after than a child of the same age who doesn’t have a disability”. More information can be found here: https://www.gov.uk/disability-living-allowance-children but we also suggest calling our helpline service or emailing them. 

Life is hard since I’ve lost my hearing, I struggle to follow conversations. Please help!
This must be very difficult. It can affect your confidence and make you feel quite isolated. It may be helpful to think about attending a lip-reading course. Your local council or library or the internet can tell you what is available in your area. Check with your NF2 ENT doctor to see if you might benefit from a hearing aid device such as a BAHA or cross hearing aid.
Consider asking for a referral to Hearing Concern Link in Eastbourne who run specialist NF2 weeks. https://www.hearinglink.org
Finally, if you are with friends or family, remind them that you struggle to hear. Tell them what helps you to follow conversation. This might be a question of making sure you sit in the right position or reminding them to face you when speaking.
If you would like more specific help, you can email our helpline service, and they will be able to support you over email with more specific suggestions.

Families & Children with NF2 FAQ

I have been diagnosed with NF2, and wish to start a family. How can I talk to someone?
Ask to be referred to your nearest regional genetics centre. There are a number of options available and these can be discussed in that setting to decide both what is possible and what could be the right decision for you and your family. A doctor (either a specialist or your GP) can refer you.

If you need further support, you can call 07939 046 030 or email our Nerve Tumours UK Helpline.