Young children with NF1, usually before the age of two, have a very small risk of developing a specific kind of seizure called infantile spasm or hypsarrythmia. This should be suspected if the child develops sudden jerking movements of the arms and legs.
Self-image
Most people with NF1 have some signs of the condition visible on their skin. Some individuals have more obvious signs of NF1 than others and they can find the outward signs of the condition an extremely distressing burden to live with. There is no easy way to deal with this medically. Café au lait patches may increase as a child gets older but may fade in adulthood. They can be covered with clothes or make-up.
Skin neurofibromas can cause more obvious cosmetic effects. They can be removed by a plastic surgeon but there will be some scarring. They may or may not grow back and it would be impossible to remove all neurofibromas in someone who has a lot of them. Laser treatment can be used but, again, it is difficult if someone has a lot of neurofibromas. You need to ask your doctor for a referral to a specialist plastic surgeon or dermatologist to discuss what is possible for you.
Many people find it helpful to talk through these sorts of issues with a skilled counsellor. It is important to know that you do not have to feel alone with these difficulties and that there is support available.
Pain and itching
For most people neurofibromas do not cause any problems. However, some individuals can experience pain and/or itching. Some adults with NF1 complain of chronic pain and this should be investigated medically. Back pain is sometimes related to a neurofibroma growing near the spine and it might not be possible to remove this neurofibroma surgically. For an adult in whom chronic pain has been fully investigated, a referral to a specialist pain clinic may be useful (ask your GP about this).
Pain-relieving medication can sometimes help in the management of this type of pain. Some pain-relief medications are very helpful, including a type of antidepressant that is effective in relieving nerve pain. If you find the medication unsuitable either because it does not seem to work or you have unpleasant side effects, return to your doctor to seek further advice.
Headaches can be a problem for some people with NF1. Again, medication may help. Headache should be investigated particularly to work out if it is a migraine-ype headache that will respond to medication. If headache gets worse or occurs in the morning on waking or wakens you from sleep, medical advice is necessary.
Itching sometimes happens in NF1. This seems to be worse when exposed to heat (for example, when taking a hot bath). Avoiding situations that you know will make matters worse is helpful. Medication such as antihistamines or a simple emollient can sometimes help – ask your GP for guidance.
Learning and behaviour problems
Most people with NF1 have normal intelligence, but around two thirds of people who have the condition will experience some problems with learning. It is the most common “complication” of NF1. The majority of children who have NF1 are educated in mainstream schools and do not require special education, although they may benefit from extra help.
Children and adults who have NF1 and who have learning problems may have difficulty reading and writing, they may find it hard to concentrate, have memory difficulties or have poor coordination. Where someone with NF1 has learning problems, this is often evident from their earliest years at school and, as children, they may underachieve at school and have difficulties establishing and maintaining peer friendships.
Research has demonstrated that there is an increased incidence of Attention Deficit Hyperactivity Disorder (ADHD) and Attention Deficit Disorder (ADD) in NF1. There is also an increased incidence of mild autism (sometimes called Asperger’s). These conditions should be assessed, diagnosed and supported in the same way as any other individual where this is suspected.
There can sometimes be behaviour difficulties at home and at school.
These difficulties can be similar to the difficulties found in children who do not have NF1, where there are conditions such as dyslexia, dyspraxia (clumsiness) and attention difficulties.
It is important that these problems are recognised as early as possible so that teachers are aware of how NF1 can affect school performance. It is useful to have a frank discussion with teachers so that common misconceptions about NF1 can be dispelled and the child can get help in school if he or she needs it.
Learning and behaviour problems in NF1 are not progressive, that is they do not get worse over time. In fact, they can usually be improved with appropriate help.
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.
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 miscopy.
When someone with NF1 has a child, he or she passes on one of their 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 one in two chance of passing the condition on to each of their children, boys or girls.
For adults with NF1 who are planning their family, there is no way to predict 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
