Neurofibromatosis Type 1 (Nf1)
Neurofibromatosis Type 1 (Nf1) is one of the most common but least known genetic conditions, affecting 1 in 3,000 people.
It can cause problems in multiple areas of the human body – the nervous system, skin, eyes, skeleton, endocrine and circulatory systems.
Complications and effects can include brain tumours, dermal tumours, optic glioma, scoliosis, Pseuroarthrosis, large plexiform tumours and kidney problems.
Children with Nf1 can experience difficulties with:
- Short term memory
- Attention skills
- Visual perception
- Visual spatial skills
- Fine and gross motor skills
- Written expression
- Anxiety and depression
- Social skills and making friends
- Language dysfunction
What is Neurofibromatosis Type 1?
Neurofibromatosis Type 1 (Nf1) is an inherited condition affecting about 1 person in every 3,000 in the UK.
Nf1 is caused by a genetic mutation, which is a permanent change in the DNA sequence that makes up a gene. As a result, the growth of nerve tissue isn’t properly controlled.
There is no cure for Nf1 and about one third of patients will develop one or more complications during their lifetime. Early treatment of some problems can minimise and sometimes prevent complications. Therefore, children with Nf1 should have their height measured and their eyes, spine and blood pressure checked once a year.
Initially children with Nf1 may only have café-au-lait spots but other features usually appear over time. For this reason, diagnosis cannot be excluded with confidence before 5 years.
Certain features are present in almost everyone with Nf1.
- Flat, coffee-coloured patches on the skin known as café-au-lait spots. These spots usually begin to appear during the first year of life and gradually grow in size and number. Individuals with Nf1 usually have many (at least 6) which can vary in size from one centimetre to several centimetres in diameter.
- Freckling in unusual places such as the armpit or the groin
- Small lumps on the skin known as neurofibroma. They usually begin to appear during adolescence and tend to increase in number throughout life. The number of neurofibromas varies widely in people with Nf1, from only a few to several hundred. Sometimes patients may have much larger, more diffuse lumps known as “plexiform” neurofibromas. These may be present at birth or appear during early childhood.
- Small harmless lumps on the iris (the coloured part of the eye) known as Lisch nodules. A special eye test is needed to detect these.
As many as 70% per cent of children with Nf1 will require extra help at school. One in four will have ASD and around half of all children with Nf1 will have ADHD/ADD.
Tumours growing in and around the brain and spinal cord are an uncommon complication of Nf1. They are usually benign and do not spread to other parts of the body.
Neurofibromas occasionally arise from the nerve roots of the spinal cord, causing nerve compression and pain; weakness or numbness in the legs or arms. These require an operation.
Tumours of the optic nerve may not cause any symptoms at all but can sometimes cause a squint, double vision or blurred vision. If such a tumour is found, it needs to be monitored by an ophthalmologist and treatment is sometimes required.
A small number of people with Nf1 will develop malignant tumours. However, it is important to realise that the risk of developing a cancer related to Nf1 is only around 5%.
Nf1 can sometimes be associated with curvature of the spine which usually develops in the early teens and occasionally children are born with or develop bowing of the bones in the lower leg.
High blood pressure is frequent in Nf1, particularly in adulthood. In most cases no underlying cause is found. Very rarely it is associated with narrowing of the artery to the kidney (renal artery stenosis) or a tumour of the adrenal gland (phaeochromocytoma). Both problems can be treated by an operation.
A small number of people with Nf1 will develop malignant (cancerous) tumours. However, it is important to remember that the risk of developing a cancer which is definitely related to Nf1 is low – only around 5% (1 in 20 chance). If you notice a lump growing rapidly or becoming unusually painful you should contact your doctor.
All these problems can be further compounded when a parent also has a learning difficulty due to Nf1. In this case, parents may find it difficult to explain to teachers why their child is displaying “bad behaviours” and not keeping up with their peers.
Tumour Support Scotland can help support anyone facing such problems. We provide help sheets for parents, teachers and support staff, which can give them understanding of the Nf1 child and how to help them to achieve their full potential. We provide power point presentations to help a child’s peer group gain a better understanding of their classmate behaves in a certain way and requires extra support. Often, once children realise there is a reason for particular behaviours they can accept them better.
Tumour Support Scotland organises family events throughout the year, where the whole family can get together with others in the same situation – who can understand and support. Just being able to chat to the Nf1 community can help a family to better deal with their situation. Many friendships have been formed at the Funny Lump’s events and no more so than at the Annual Family Workshop Weekend.
The Annual Family Workshop Weekend, which takes place in Stirling in April, is our main event. Here families have the chance to meet and mingle, as well as to gain knowledge and understanding from our speakers. To date, our workshops have included participation from Medical Genetics, Sleep Scotland, NSPCC, Carers, Autism, GIRFEC, Genetic Alliance, Mind Room, Contact a Family and many more. We also provide a full crèche over the weekend so parents can relax knowing their children are well taken care of. Our teens and pre-teens have their own workshops and activities throughout the two days.
Our mascot Cal has his own club – Cal’s Pals. Kids can join to receive their own Cal’s Pal tee shirt and goodie bag by emailing firstname.lastname@example.org.
As a small charity we work with Genetic Alliance, who help give us a voice in parliament. We also engage in Parliamentary Cross Party Working Groups to help raise the profile of Nf and other under-reported diseases.
More on NF1
Tumour Support Scotland has compiled a bank of factsheets to answer some common questions that parents, teachers or schools may have about Nf1.
There is also information for children with the condition: advice and guidance on symptoms and behaviours, and navigating new phases of life, such as adolescence.
Please download any factsheets you require, and get in touch if you need more info.
Families we’ve helped
“The Tumour Support Scotland charity has been amazing to myself and my family. I don’t know where I would be without it.”
Tumour Support Scotland helps scores of families to understand and be proactive in dealing with the inevitable hurdles that come with Nf1. Click through to read a small handful of testimonials from our families. Together we have a strong collective voice and each other to lean on, talk to and share experiences with.