NF1 Facts

Neurofibromatosis (NF) is a collective name for a group of genetic conditions in which benign (non-cancerous) growths or tumours affect the nervous system.

Neurofibromatosis occurs all over the world and affects men and women equally. There are two types of Neurofibromatosis: NF1 and NF2. This information refers to NF1 only.

Neurofibromatosis type 1 (NF1) is a very common genetic condition. Approximately 1 in every 2,500 people is born with NF1.

NF1 varies widely in how if affects those who have the condition. Many people with the disorder will be affected very mildly and may have nothing more than skin changes. A minority of people (around a third) who have NF1 will have medical problems related to the disorder at some time in their life. Some of these problems will be mild and easily treatable and others will be more severe.

Itching sometimes happens in NF1 and no one knows why this is so. Medication such as antihistamines or a simple emollient can sometimes help – ask your GP for guidance. 

Deciding to have children if you have NF1

NF1 is caused by a change in the structure of a gene. Each person has about 30,000 genes in their body. Genes are the set of instructions within cells that tell the body how to grow, develop and function. Most genes come in pairs, so we all have two copies of the NF1 gene. If a person has NF1, one of these copies will have an alteration or spelling mistake and when someone with NF1 has a child, he or she passes on one of his or her two copies of the gene: either the normal one or the copy with the NF1 alteration. If the normal copy of the gene is passed on, the child is very unlikely to have NF1. If the altered NF1 gene is passed on, the child will have NF1. Therefore, every person with NF1 has a 50:50 or 1 in 2 chance of passing the condition on to any of his or her children, boys or girls (similar to tossing a coin).

For adults with NF1 who are planning their family, there is no way of telling beforehand how mildly or severely a child who inherits NF1 will be affected. The decision whether or not to have children is a very personal one for a couple and may depend on personal experience of NF1.

It is not usually possible to offer tests in pregnancy but couples considering this need to be referred to a genetic centre to discuss this with a genetic doctor and counsellor before contemplating a pregnancy. The doctor and/or counsellor will discuss the condition, the risks and the options available, so that the couple has all the information they need to make a decision.

NF1 and pregnancy

There are no specific concerns about pregnancy and NF1. If you are pregnant and you have NF1, you should let the maternity unit know that you have NF1 at the first antenatal visit. Some women report an increase in the number of neurofibromas and an increase in size of existing neurofibromas. When your baby arrives, he or she should be checked for features of NF1 from the first months of life by a community or hospital paediatrician, geneticist or clinic specialising in NF1.

What do I need to do to look after myself (or my family) if I (or they) have NF1?

If you have NF1, you should expect to live a long life in good health. Most people who have NF1 go through life with relatively few medical problems. NF1 can cause life-threatening problems but these are very rare. It is important to have regular medical follow-up so that any complications can be identified early. The problems in NF1 can be stable for many years but will not disappear and can sometimes increase.

Professionals who are important to your care if you or your child has NF1 are the Family doctor (GP) or Hospital or community paediatrician (children’s doctor)

Brain scans are not routinely performed in NF1 unless there are specific reasons.

If you notice any changes in your health (as described earlier) outside of routine review appointments, it is advisable to seek medical advice. If symptoms do not go away, then it is important to return to your doctor for further advice because if you do not, he or she will assume that you have recovered from the problem that you first went to see him or her about. It is worth reminding your doctor that you have NF1 and asking if your current health problem or symptom could possibly be related to the condition and if you need referral to a specialist.

NF Specialist Advisor

The NF Specialist Advisor service also offers a support and information service that is available to families and individuals who have NF1. The NF Specialist Advisor can speak with you by phone or can visit you at home. The service also has links with many other health and education professionals. The NF Specialist Advisor can visit your child’s school to give information to teachers on learning and NF1 or contact other health professionals who are working with you to give them information about NF1.

For further information we have a range of literature which can be downloaded or ordered by calling 020 8439 1234.

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