Frequently Asked Questions / Submit a FAQ
What do you wish you'd known? Submit a question below to guide us on the information you wish you'd had!
Please keep in mind
Our answers to the FAQ's are either vetted by a member of our Medical Advisory Board or answered by our Specialist Advisors. We go to every length to ensure medical accuracy. However, we maintain a National Neurofibromatosis 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 and Tuesday on 07939046030 or email Helpline@nfauk.orgSubmit a Question
Questions from our Information day
Clicking joints are not usually associated with NF1. If he is so tired I think he should see this GP or NF Doctor for a check-up. If his scoliosis is more pronounced has he seen a scoliosis surgeon recently?
Although itching is associated with Neurofibromas in some people it would not cause hives. I think you need to discuss this with your paediatrician or GP. The teens are a time where any young person can have outbursts or be anxious. NF can add to this as the young person becomes more aware of their NF. Again, this is something to chat through with her Doctors or Specialist advisor/NF nurse if you are in touch with one.
My son, who is 4 in December has it so has my partner but my son has speech impairment late development still nappies doesn't tell us when he needs a wee or poo. Also, he is very shy and quite in nursery only joins in activities when asked to but good at shapes and colour? He has to see a nurse or Dr in March regarding his learning but not sure what they are looking for but on the leaflet, it talks about ADHD and ASD?
With these problems, the Doctors always check there are no other problems as well as the NF causing the late development. A lot of Doctors and Nurses know a little about NF1 but it is always good to take the Neuro foundation leaflets with you, so they have all the up to date information. The reason it is important to check they know that children with NF1 have an increased chance of having ADHD and ASD is, so they get properly treated and the behaviour issues are not just blamed on NF1.
Children with NF1 have a much higher chance of getting ASD than others (25%). Other than this and ADHD NF1 itself won’t cause major behavioural problems BUT you daughter may be worrying about her NF1 and this makes things worse. If her headaches are getting worse, it is important a Doctor checks them out. A migraine is another thing that is more common in NF1.
Yes, we know that vitamin D is often lower in people with NF1 than the general population.
Unfortunately, this does not tell us about how NF1 will affect her in the future. It is encouraging her development is normal, but this is the case at this stage for many NF1 children. The specific learning problems often only become obvious when a child is learning to read and write. If a child gets to 7 years of age with no problems at school, then they won’t develop the NF1 learning issues in the future.
Nearly all clinical trials will be advertised through the Neuro Foundation. The exception is small trials that need only 10-20 people and then the trial centre may have enough patients. Trials are beginning for drugs to shrink plexiform neurofibromas. To make sure you are considered for these it is worth being assessed at one of the two complex NF1 centres: at Guy's hospital in London led by Prof Ferner and in Manchester led by Dr Vassallo.
Studies over the last decade have shown that 25% of children with NF1 also have ASD.
My son is missing 19 genes. He has NF1 microdeletion syndrome. I want him to have a full body MRI's as I know he will get the tumours around his spine and is a lot more likely to develop malignancies due to this large deletion. However, im having a hard time convincing the hospital to do even an MRI of his spine. He already has 1 lump on his spine and I suspect a tethered cord and he is 9 months old.How do I state my case to the hospital? Any advice would be appreciated.
Although people with the microdeletion do have a higher chance of spinal and other neurofibromas, these rarely cause problems until the late teens /as an adult. At your sons age most NF Doctors would only do scans if they were worried clinically.
If an individual is diagnosed with ADHD or Autism then they will be affected for life, however, strategies can be developed to help manage life more effectively with either of these conditions. If you want more in-depth information on either of these two conditions which are associated with Nf1 then I would advise you to look on the following websites:
All adults with Nf1 should visit their GP at least annually for an overall health check and a blood pressure check. As an adult with Nf1, it is important that you also visit the optician for an eye check at least every two years. In between these appointments it is also important that you contact your GP if you develop persistent headaches that seem to be getting worse, have blurred or double vision, develop numbness or pins and needles in your arms or legs, develop a change in lump from soft to hard or a lump that appears to be growing rapidly, or any persistent pain that doesn't go away. Always mention that you have Nf1 to every health professional that you see.
Young adults aged 16-25 should be given the opportunity of receiving education about Nf1, its possible complications and family planning options if they are fortunate to live in an area of the country that has Nf1 specialist advisor input. If not - it is always worth getting in touch with your local genetics clinic to see if they can offer a clinic appointment to discuss these issues. All adults ideally should have a health check with a GP which should include a blood pressure check and discussion about any symptoms the individual may be suffering from which could be connected with their Nf1. In addition, it is important that all adults with Nf1 visit their local optician for eye checks every 2 years.
Children can develop neurofibromas at any age but it is more common for age onset to be during adolescence as this is a time of hormonal change. Unfortunately, there is no way of predicting how many neurofibromas a person will develop. There are three types of neurofibromas - subcutaneous neurofibromas, which develop as lumps under the skin, cutaneous neurofibromas which are bobbly lumps which sit on top of the skin, and plexiform neurofibromas, which are more extensive and develop as a thickening of tissue that grows along the length of the nerve.
Answered: Oct 2016
Neurofibromas on the skin tend to start to develop in most people by their teens and early twenties. More can appear over the course of someone’s lifetime. Occasionally they can appear during childhood. How many neurofibromas someone will have is very variable: some people have only a few but others may have more. It is difficult to predict.
At the moment there is no drug that can prevent the growth of neurofibromas although there continues to be international effort to identify an effective treatment. (For information about the trials currently in progress please see our newsletters) Currently most treatment trials focus on plexiform neurofibromas rather than dermal neurofibromas.
Recent research has shown that 75% of neurofibromas carry progesterone receptors.61 However, there has been no confirmation that the combined oral contraceptive pill or the progesterone only pill contributes to neurofibroma growth
Recently asked NF1 questions
Answered: Oct 2016
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 are 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.
Answered: Oct 2016
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 mis-labelled as lazy or naughty so it is important 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.
Answered: Oct 2016
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. Therefore parents should be aware of unusual health changes that should prompt them to seek advice from their doctors.
Answered: Oct 2016
This is a difficult area because it has huge cost implications at a time when the NHS is struggling to meet current health care 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 25000 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 size and volumetric changes.
Answered: Oct 2016
This is a genetic term that means there is a loss of all or part of a gene. In other words instead of a single spelling mistake in the genetic code there is a word or words missed out completely.
Patients with a whole gene deletion may be at risk of developing more health problems than average. Testing for this variation of NF1 is not routinely offered. An experienced NF1 doctor may well recognise the possibility of this diagnosis from the characteristic appearance of their patient and in some circumstances may offer testing to confirm their opinion.
In contrast to most people with a diagnosis of NF1, people with a WGD tend to be rather taller than average. They may also have more neurofibromas and these develop at a younger age than the average person with NF1.
Learning and developmental delay is more common and more pronounced in this group of patients.
Previously asked NF1 questions
No. They are completely separate and different conditions.
Neurofibromatosis is a name given to 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. Mostly this is well recognised within the medical world and doctors are aware of the differences.
Where there is uncertainty, sophisticated scientific techniques can help to distinguish the different cell types present in the tumour itself. This will clarify whether the tumour is typical of NF1 or NF2 and so support a correct diagnosis.There are a few Neurofibromatosis specialist centres in the UK. For further information please contact The Neuro Foundation.
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.
When a doctor suggests NF1 as a possible diagnosis parents will understandably feel upset and worried especially if they have not heard of Neurofibromatosis 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 cafe 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.
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. Check with the London office of the NFA to see if there is a Specialist Advisor in your area.
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. At the recent European meeting we agreed this should be called Legius syndrome, to clearly differentiate it from NF1 and to honour Prof Eric Legius’s work in identifying the condition. As Legius syndrome is a much milder condition it is important it is recognised.
The big difference in Legius syndrome families is the adults do not develop neurofibromas. Also the only NF1 like complications recorded to date have been learning problems and in a lower number of people than in NF1. Since the original publication, Prof Upadhyaya has set up the SPRED1 test as a research project and has recently published our initial UK experience. The most striking thing is that in 5/6 of our families, multiple café au lait spots were present in two or more generations of the family.
So to get back to the question- 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.
This is a question that recently came to one of the Specialist Advisors and we thought it would be good to share the answer we gave the Charities Medical Advisors at our last meeting. There are four key points:
- 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.
- 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.
In the UK doctors do not suggest routine scans for NF1. If you are well and have no unusual symptoms, it is not necessary. Scans are used to give doctors more information about a particular health problem. Often they are arranged after other tests.
For example if a patient complains of back pain, the doctor may first do a physical examination and ask lots of questions. The doctor may try to work out where the pain is and whether it is arising from a muscle or a part of the bony skeleton. They may then check the nervous system to see if that is working properly.
Only after these steps and if the doctor feels further investigation is needed will they consider a scan. It is important to return to your doctor if the symptoms do not settle or if they go worse. Your doctor may refer you to another specialist if this is appropriate.
As an adult you have passed the age where some of the complications of NF1 can appear. For example you are no longer at risk of developing a curve in your back. Almost all people with NF1 have the skin signs (cafe au lait, freckling and neurofibromas) but only a third of people will have one or more of the rarer NF1 complications during their lifetime. For good health care it is recommended that you visit your GP surgery annually to get your blood pressure checked. You should get your eyes checked at the optician.
Hopefully you will keep in good health but there are still some health problems in NF1 that you need to be alert for. They are rare but recognising them and knowing what to do is helpful. You should seek urgent medical advice if you notice changes such as:
- increasing headaches that don’t settle with your usual remedy
- if a lump or neurofibroma grows rapidly or is painful at rest (i.e. when it has not been knocked)
- if you have pain, numbness or tingling that continues to trouble you
- if you notice changes in your eyesight such as blurred or double vision
- if you notice any health change that is unusual for you
- Women should ask for annual breast screening and mammography from the age of 40.
It is always sensible to remind the doctor that you have NF1 and to ask whether the symptoms you have could be linked to that diagnosis. If the symptoms do not go away, then you should return to the doctor to ask for further advice and to see a specialist if necessary.
There are some specialist clinics that support patients with NF1 in different parts of the UK. Contact The Neuro Foundation on 020 8439 1234 for details.
These are a really important set of questions for women with NF1 and I am grateful to Margaret Soars for sending them in. In Manchester, Professor Evans and the team have been following families from the North West Health Region since 1990. This has allowed several important studies on the natural history of NF1, including about breast cancer. We did this because we seemed to be seeing more women aged under 50 with NF1 and breast cancer than we should have been. So when Dr Sharif (who is now a Consultant Geneticist in Birmingham and runs an NF clinic), was a research fellow with Professor Evans she did a proper study to see if this was correct.
They compared the number of cases of breast cancer in 304 women with NF1 on the Manchester NF1 genetic register with the number expected in the general North West population. They found that 11 women with NF1 had had breast cancer under the age of 50 years, when only two cases would have been expected in the general population. This meant that women with NF1 have a moderately increased risk of breast cancer under the age of 50 years. One of the things that initially puzzled us is why none had reported this before. For example, there had been a large study of death certificates for people with NF1 in the USA and they did not find an increased risk of breast cancer. We are fairly sure this is because it is common for NF1 not to be mentioned on death certificates. Indeed in Dr Sharif’s study, NF1 was not mentioned on the death certificates of the five women who had died of breast cancer. There had been one previous UK study that suggested there was an increase risk of breast cancer in women with NF1 (this was a study initiated by Professor Ponder, looking at the kind of cancers that people with NF1 got in which many Neuro Foundation members assisted; Walker et al British Journal of Cancer 2006).
At the recent CTDF conference, Dr Madanika, who works with Dr Blakeley at the Johns Hopkins NF Clinic in Baltimore, presented the first US study showing similar results.
In 2004 the National Institute for Health and Clinical Excellence (NICE) developed guidelines for breast cancer screening for women with an increased risk because of a family history of breast cancer. They defined the risk of developing breast cancer as 1.5% in women aged 40–49 years in the UK population. Those with a 3–8% risk are considered to be at moderately increased risk; the NICE guidelines stated that women with this level of risk should be offered annual mammography from the age of 40. In other words 10 years earlier than the general population and more frequently than is necessary when you reach 50 years. The results of Dr Sharif’s study show that women with NF1 are at moderately increased risk and so be referred to their local breast screening units for annual mammograms when they reach 40 years.
The presence of neurofibromas on the skin should not affect the way mammograms detect breast cancer. The only time I can envisage NF1 making a mammogram difficult to read is if a woman had a large, diffuse plexiform neurofibroma overlying the breast. Fortunately these are very rare and if this was the case it may be better for the breast clinic to consider an MRI scan.
Since 2007 we have been referring patients in the North West for breast screening from the age of 40 years, as have other NF1 clinics. However, if you ask your GP and local breast unit they may not know about this as NICE has not updated their guidelines since 2004. They are just doing this at the moment and we hope NF1 will be mentioned specifically. If you are having problems organising this you should ask The Neuro Foundation office to send you a copy of the ‘Clinical Guidelines for the management of individuals with NF1’ to take to your Doctor.
Recently asked NF2 Questions
The short answer is YES! Although many of the rare complications of NF1 have been recognised for many decades, every now and then someone acknowledges a new association. Dr Sue Huson says “I first heard about glomus tumours of the nail bed from the work of Prof Eric Legius in Belgium. When I heard him talk I could immediately recall a couple of patients I knew with recurrent severe pain in one or more finger or toe where we couldn’t find the cause…I now realised what it must be”.
Glomus tumours are small benign tumours which grow at the base of the finger and toe nails. Once diagnosed, they are easy to remove, BUT as they are rare it often takes a long time to diagnose them. They cause severe pain in the affected finger or toe, especially when touched or when exposed to hot and cold. When very severe, part or all of the hand or foot can feel painful. In NF1 this kind of symptom can make doctors think of neurofibromas pressing on the nerve further up the arm or leg.
Answered: Oct 2016
Special rules allow people who are terminally ill to get financial help with state benefits such as DLA/PIP quickly. You are considered to be terminally ill if you have a progressive illness likely to limit your life expectancy to 6 months or less. In practice it is impossible to say exactly how long someone will live. Some people who receive PIP live much longer than the 6 months guideline. A GP or a specialist doctor involved in the person’s health care needs to complete a form to provide evidence to this effect.
The rules for claiming benefits like this are complex and change from time to time. Your local Citizens’ Advice Bureau can advise you about benefits independent of the Department of Work and Pensions (DWP). There is helpful information on their website at www.citizensadvice.org.uk. There are other locally based advice agencies who can offer help to people unsure about whether to make a claim.
Previously asked NF2 Questions
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 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.
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. As a result of this, Dr Kenny and the NSCT are now reviewing our criteria for using Avastin and long term treatment. We will publish these in the newsletter and on the website as soon as they are available.
Eligibility for benefits is complicated and the rules may change at times. Some benefits depend on whether you have paid National Insurance contributions. Others are based on health factors alone (e.g. Disability Living Allowance). For reliable advice about what you can claim, contact organisations such as Citizens Advice Bureau or a local Advice Centre. They offer free independent advice on welfare benefits.
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 referral to Hearing Concern Link in Eastbourne who run specialist NF2 weeks. (www.hearingconcernlink.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.