Neurofibromatosis

Many will have never heard of neurofibromatosis, but most people have heard about Muscular Dystrophy or Cystic Fibrosis yet, around 25,000 people in the UK are affected by NF. In fact, Neurofibromatosis (Nf for short). is as common as Cystic Fibrosis; Why, you may wonder, is it possible that there is a disorder which affects so many people and yet there is still so little known about it?

A disorder that can occur in any family, affects males and females of all ethnic groups. Nf1 affects one person in every 4,000 births worldwide. frequently leads to specific learning difficulties and behavioural problems, affects the body's vital nervous system and can lead to serious complications and, occasionally, even premature death. Well, like everything else about neurofibromatosis, it isn't simple to answer what does life hold or what will happen next?

Neurofibromatosis (NF) is often referred to as Von Recklinghausen and is a genetic condition that can cause a devastating number of symptoms including the appearance of light brown spots on the skin (called "cafe-au-lait" spots) and later the development of multiple tumours on or under the skin. Neurofibromatosis lesions (changes in body tissue) may occur in any part of the body.

What are the symptoms?
If neurofibromatosis was just a skin complaint, it would have remained a disorder known only to Dermatologists and Plastic Surgeons. But it is much, much, much more than just a skin complaint and the complications associated with the NF can cause serious problems. The most common of these complications are specific learning difficulties and behavioural problems. But not all children with NF have these problems and most have a normal IQ and are outwardly bright and lively but, at school, they may have particular trouble with reading, writing and math’s. Unless NF is diagnosed early and the appropriate action taken, these children may never reach their full potential.
Some people with neurofibromatosis will have other complication and the complications associated with Nf1 include high blood pressure, curvature of the spine (scoliosis), benign skin tumours called plexiform neurofibromas. These growths may increase in size - they can press on nerves and affect vision. Rarely the growths may become cancerous. the tumours can lead to disfigurement, deafness, blindness, and the dysfunction of many organs, deformity of limbs, learning disabilities, and epilepsy. Many affected children have learning difficulties. internal, spinal and brain tumours (usually benign), speech problems, and hearing defects all of which can lead to serious difficulties for those affected.

Another sign of Nf1 are Lisch nodules. These are very small brown marks that are found on the coloured part of your eye (iris). Over 90 per cent of people with Nf1 will have these marks. These marks do not cause any sight problems, but they can be helpful in helping doctors to know if someone has Nf1.

In Nf1 symptoms usually appear in early childhood. A telltale sign is the presence of coffee-coloured birthmarks known as 'cafe-au-lait' spots. At least six of these are present at birth or develop within the first five years of life.

For some people Nf1 is not much more than a skin condition (the lucky one's) they may have no idea that they even have NF1. However, for some people the lumps can put pressure on the nerves as they grow and cause various problems, such as:

If large tumours are close to the surface of the skin, they can be unattractive and may be painful if they are knocked.

If the tumours are deeper inside the body, they can affect the way that the organs in your body function.

Rarely, do the tumours turn into cancer. Sometimes the bigger plexiform neurofiber may turn cancerous. If you have a tumour that changes, grows, gets hard or becomes painful you should see your doctor and tell him/her that the tumour has changed and giving pain.

How I learned to cope with the help of my family:
My mum found out she had NF when she was 10 years old, mum had no idea why her body was covered in coffee-coloured birthmarks or why she had small lumps under her skin.

When mum reached the age of ten, one of the lumps caused her to visit her GP due to the lump giving her some pain, the doctor assured my gran (mum’s mum) the lump was nothing to worry about, but as mum and gran was going out of the door the doctor asked if mum had any brown marks on her body, to which my gran said “Yes, loads on her back”. Mum was then sent to the hospital to have a biopsy done on the lump and it was at this point mum discovered she was suffering from Neurofibromatosis (NF1).

The hospital doctor told my gran that mum had Neurofibromatosis (NF1) and that it was hereditary.

Over the years mum’s had a few small tumours and some larger tumours, called neurofibromas, under her skin removed due to them giving her some problems. Mum said: the tumours she has now are just there, but being attached to the nerves if she knock them she can get a lot of pain. When mum was first diagnosed she use to think, Why me? Why should I be different? Going back nearly 40 years ago, very little was Known about NF

With me if the lumps grow so much that they are severely affecting my nerves and giving me pain, an operation is performed which gradually cuts them away. I have lost count on how many such operations I have had. I just hope the tumours do not grow back, which they can.

Mum and I both have six monthly check-ups to monitor our condition with an NF doctor.
People say to me, how do you cope? And I say. You just have to get on with it. I ignore it and try to shut it out and get on with life. That's the way I handle it.
I may have NF but NF does not have me and I’m pleased to say my brother does not have NF.

Treatment and therapy
There is no cure for NF but the Neurofibromatosis Association is optimistic that there will be an effective treatment within the next 5-10 years.

Sometimes surgery may be necessary to remove some tumours (such as acoustic neuromas or brain tumours) and this can cause complications such as facial paralysis.

"new"

I have just made a short video for WellChild on how I cope with my NF and Scoliosis you can watch the video of my day by clicking on picture

To watch my TV Documentary click on picture above.

To watch my mums full interview click on picture above.

To watch my full interview click on picture above.

To watch Dr. Huson's full interview click on picture above.

Dr. Huson (is my NF doctor), hope you enjoy watching the video's. Please leave a comment on You tube if you have time about the four clips. Thank you.

If you or somebody you know suffers from Neurofibromatosis you will find these websites very helpful too.

Together we can help each other.

Neurofibromatosis
The neurofibromatosis (NF) are a set of genetic disorders which cause tumours to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. NF causes tumours to grow anywhere on or in the body.

Genetic factors

Nf1 is due to an abnormality on chromosome 17.

The Neurofibromatosis Association
Quayside House
38 High Street
Kingston upon Thames
Surrey
KT1 1HL