Frequently Asked Questions
With the help our our Advisors, we have put together a number of the most commonly asked questions regarding either NF1 or NF2. If you would like to ask a further question, please call our Helpline on 0845 602 4173 or email info@nfauk.org.
1. Our child has recently been diagnosed with NF. No-one else in the family has this so why has it 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.
2. We have been told that our baby may have NF1 but the doctor is not sure. We are finding this very difficult and wonder why we must wait?
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.
3. Our son has NF1 and will start 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. Check with the
4. I have NF1 and my doctor has never suggested I have a scan. Do you think I should have a scan?
In the
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.
5. I have NF1 and I do still worry about my health even though I am 30 now and have always been well. What should I be looking out for?
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:
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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
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if you notice any health change that is unusual for you
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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
6. Can NF1 turn into NF2?
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
7. I have been diagnosed with NF2 and I want to talk to someone about starting a family. Where do I go for that?
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.
8. I have NF2 and my medical care is managed at one of the specialist NF2 centres. How can I make sure that my GP and local doctors know how to care for me in 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.
9. My partner is disabled and has difficulty walking although he does still manage to work. Can we get any benefits?
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.
10. I have NF2. Since losing my hearing in my left ear after surgery I am struggling to follow conversations. Have you any suggestions?
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
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.
The NF - Improving the lives of those affected by Neurofibromatosis