If someone has NF1, he or she will have it for life. There is as yet no specific medical treatment or gene therapy to cure, prevent or reverse the features of NF1.

Many people who have been diagnosed with NF1 never experience health problems. However, some people who have NF1 can develop some of the complications that are known to happen in this condition.

The development of some of these features is related to age and some complications can first appear in childhood. Specific complications can be treated medically or surgically depending on the problem. Research may lead to new treatments in the future.

NF1 is a complex disorder and one of its features is how variable the condition is from one person to another, even within members of the same family. At present there is no way to predict how mildly or severely any individual will be affected; however, specific complications of NF1 respond best to early treatment.

Although no medical test is available to predict the mildness or severity of NF1, please do not be influenced by television or newspapers, which invariably depict NF1 as severe. The media can sensationalise the condition, when the reality is that an estimated two thirds of people with NF1 are mildly affected and live a normal healthy life. Overall, the vast majority of the complications faced by people with NF1 are not life threatening.

Some specific complications that can occur in NF1

Ophthalmic (Eyes)

NF1 can cause problems at the back of the eye in the form of an optic nerve tumour/swelling called an optic glioma, which is most likely to occur in early childhood, up to about the age of seven.

An optic glioma is a non-cancerous growth that involves the cells of the optic nerve, the nerve that connects the eye to the brain. In optic glioma in NF1, there are often no symptoms. Sometimes there can be vision problems or occasionally it can cause early puberty in a very small percentage of cases. Where this complication is diagnosed during childhood, it rarely progresses in adulthood, but it needs careful monitoring by an ophthalmologist (specialist eye doctor).

Orthopaedic (bones)

In NF1 there can sometimes be problems with #### development. Specifically, NF1 can affect the growth and development of long bones, particularly the tibia (front lower leg #### or shinbone) or the bones around the eye. These problems, if they are going to occur in NF1, are usually seen in infancy and will not develop out of the blue in later years.

There can also be a curvature of the spine (scoliosis) in NF1 and this complication can occur up until the child is fully-grown. Some orthopaedic complications of NF1 require a referral to an orthopaedic surgeon.

Dermatological (skin)

Neurofibromas are benign tumours / growths that develop on or under the skin or along a nerve. They can occur anywhere on the body where there are nerves. They may look and feel like small pea-sized lumps or nodules under the skin. Skin neurofibromas are usually soft and painless. Those that are under the skin are usually firmer to touch but are usually also painless. Other neurofibromas may be deep in the body and cannot be felt from the outside. They do not cause health problems generally although some may press on a nerve and symptoms may develop such as pain or numbness. In this case, you need to see your doctor.

Many adults feel embarrassed and self-conscious about their neurofibromas. These nodules usually develop over time and can continue to grow in size. Typically, adults with NF1 will acquire more neurofibromas as they age because they do not go away.

There is no way to predict how many neurofibromas a person with NF1 will develop or when or where on the body they will develop. This feature of NF1 varies greatly from person to person. There is nothing a person can do to prevent or slow the growth of neurofibromas. This is one of the features of NF1 that doctors are currently researching.

Sometimes a neurofibroma can be annoying because it is in an awkward place and may catch on clothes and it may be possible to remove it surgically. This should always be done by a doctor who has experience of NF1. You need to approach your GP first to ask for a referral.

Although many people with NF1 tend to tan easily without sunburn it is important to use a high factor sun block and sun protection.

Plexiform neurofibromas

Some neurofibromas can grow in a wide, spreading fashion around large nerves and may feel like a bunch of knots or cords beneath the skin. These types of growths are called plexiforms. Sometimes they will be obvious in early life as an area of swelling but other times they can lie deeper in the body and are harder to detect. They can grow anywhere on the body and, more rarely, occasionally on the face.

When they are present near the surface they sometimes grow to a large size. If this is going to happen it usually does so within the first few years of life. These tumours can be painful if knocked and can be disfiguring depending on their size and shape. Less commonly, a plexiform can become cancerous (more on this below).

Tumours and cancer

Everyone, whether they have NF1 or not, has a risk of developing cancer during their lifetime. It is known that a small number of individuals with NF1 will develop malignant (cancerous) tumours. However, the lifetime risk of someone developing cancer related to NF1 is around 10%. Research in this area is continually being updated.