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 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.
Help at hand:
Whether you've got
Nf or not, it can be alarming to find a tumour.
There's no point worrying in silence, so check
out any changes with your doctor and, remember,
many tumours turn out to be benign and harmless.
Couples with
a family history of neurofibromatosis who are
thinking of having a baby can be referred to a
genetics specialist before getting pregnant, for
advice. However, neurofibromatosis is
unpredictable - how mild or severe a parent's
case is has no bearing on how the child will be
affected or what complications they may have.
If you have just found out that you or a member
of your family has NF, please don't worry, I'm
here to help and support you in any way I can.
You may feel a so you are alone right now but
your not.
Although NF is a wide ranging disorder, each of us who have NF shares a common bond. NF does not necessarily bring each of us severe complications, but it does bring each of us a measure of uncertainty. No doctor can tell you how your NF will affect you, because they don't know. NF is different for everyone.
The sharing of information and support can be valuable. Each one of us has a unique life experience in living with NF which we may find beneficial to share. If you would like to share your story about life with NF, mild or complicated alike, then please sign into my guest book or email me and let's help each other today.
My story, my journey continues and I will not let NF win! I hope by having my book published it will help you fight this cruel condition too.
In meantime please don't forget if I can help you in anyway please let me know, I can't help answer any serious medical questions, but I can help you with anything that may be worrying you, or help you understand what will be happening to you. My web site is not meant to be technical or full of medical jargon. I'm there as a support for you, to be a friend, someone you can sound-off at when you're feeling down. If you need any advice, or just want somewhere you can meet fellow sufferers then this is the place to be!
While people of any age will struggle to adjust to a life with pain it can be particularly hard for teenagers and those in their early 20's. At a time when the world should be opening up, offering exciting things, it can feel as if a door has slammed shut. Don't dwell on what you can't do, but concentrate on what you can, explore new interest.
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.
Living with
Neurofibromatosis, we don’t have a choice.
With everything in life, we must choose how we
deal with what is placed before us.
Despite the many fears and complications that
come with Neurofibromatosis (NF), I choose to
live my life to its very fullest.
I see have seen how variable
NF is, and I sometimes think of the future.
However, I don’t think about it for very long.
I find comfort and distraction in my very busy
life. I get so much comfort from helping others,
I am very much distracted by what to do next for
my fund raising, studying and spending time with
family and friends.
I have dealt with, so many
MRI's, blood test, different types of scans and
operations to remove the NF tumours and
bullying. But most importantly, I have had to
deal with people not understanding what NF is. A
lot of people still connect NF to the condition
that the Elephant Man (Mr. Joseph Merrick)
suffered from, which was proved to be incorrect
and just shows that people need more information
about NF.
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
Dr. Bruce Korf is
a nationally recognized leader in human genetics
and internationally regarded as a leading
authority in the neurodevelopmental disorder
neurofibromatosis.
Dr. Korf has had major leadership roles in the
National Neurofibromatosis Foundation since
1985. Dr. Korf has received numerous awards from
the National Neurofibromatosis Foundation
including the Von Recklinghausen, the
President’s, and the Courtmanche awards
Contact Information
Address:
Department
of Genetics
Kaul Human Genetics Building Rm. 230
720 20th Street South
Birmingham, AL 35294-0024
Phone: (205)-934-9411
FAX: (205) 934-9488
You may have just learned that you have
neurofibromatosis, or perhaps you have been
going to doctors for years because of the
disorder and living with more serious
complications.
Neurofibromatosis can affect the body in many
ways, and it can affect different people in very
different ways. In some it may be nothing more
than a nuisance, but in others it can cause
important medical problems. It is natural to
have lots of questions when a person is told
that he or she has a condition such as
neurofibromatosis.
Below are some of the questions that I have been
sent over the years, I hope these answers help
you if you have NF.
Q: Does NF remain stable over a lifetime or does
it get worse as we get older?
A: NF1 and NF2 are both progressive disorders,
but the rate of progression and any complication
are very much unpredictable. A person with NF1
may experience an increase in the number of
neurofibromas that they have over his or her
lifetime.
Q: Is there a cure for NF?
A: The simple answerer is “NO”, but there is
researchers worldwide working to find more
effective treatments that will help people with
NF.
Q: Is there any research being done for NF?
A: Yes, research is being carried out all the
time.
Q: Is NF the same condition as the Elephant Man
had?
A: No, but for many years doctors believed that
Joseph Merrick (the elephant man), had NF, then
in 1986 it was proved that Joseph Merrick had an
extremely rare condition called Proteus Syndrome
and not NF.
Q: Does NF occur more in men or women?
A: NF affects both women and men of all races
equally.
Q: Can someone with NF still donate blood?
A: Yes, people with NF can donate their blood,
and anyone who receives their blood will not
develop NF as a result of receiving blood from
someone with NF.
Q: Is NF an inherited condition only?
A: No, 50% of cases of NF will have been
inherited from a parent who has NF. The other
50% of NF cases are a result of a spontaneous
mutation in the sperm or egg cell.
A person affected by NF has a chance of passing
the condition on with every pregnancy they have.
Q: If I think I or someone I know may have NF
what should I do?
A: for anyone who thinks
they may have NF they should first see their
family doctor who will then put them in contact
with a doctor who is more knowledgeable about NF
who will then discuss your symptoms and concerns
with you.
Q: what is the difference between NF1 and NF2?
A: if two or more of the following are present,
a diagnosis of NF1 is normally confirmed.
·
Family history of NF1
·
Freckling under the arms or in the groin area
·
Six or more light brown café-au-lait marks on
the skin (these look like birth marks)
·
Small pigments on the eye’s iris, which are
called “lisch nodules”
·
Small bumps (neurofibromas) on the skin
·
Skeletal abnormalities, which is bowing of the
legs, curvature of the spine (scoliosis) or
thing of the shin bone
·
Optic Glioma
With NF2 if one or more of the following are
present a diagnoses of NF2 is likely.
·
Family history of NF2
·
Tumours found on both the auditory nerves, which
may cause deafness, balance problems or ringing
in the ears
·
Tumours can be found on the brain, meninges or
spinal cord
·
Pre-senile cataract
Q: What is the prognosis for someone with NF?
Q: Should I tell my child teachers that my child
has NF? I don’t want my child to be labelled as
having a learning disability.
A: Yes, it’s always advised that you tell your
child teachers that your child has NF as this
will help to lead to earlier detection and
treatment of any learning problems your child
may have due to NF.
It is very important to recognise learning
disabilities and to take steps to deal with them
as soon as possible. Unfortunately some children
with learning disabilities are misunderstood in
school, and thought to have bad behaviour, or
not be working hard enough.
Some teachers may try and push the child to work
harder, not understanding that the child is
working hard, but they are just unable to
perform certain task as well as they can others.
A person with NF can go on
to college and even University with the special
help and support they need.
Just remember you are
not alone. I welcome everyone who visits my
website and I look forward to many new
friendships and helping many more people with
this
unpredictable and
cruel
condition.
Having been given a diagnosis
of Neurofibromatosis (NF) can be very scary. No
doubt about it and I am pretty sure that most of
you dealing with the diagnoses of NF have gone
home and typed “Neurofibromatosis” into
Google, only to be come even more frightened
from the results that you read on Google.
Let me try and comfort you by
saying, the results you get from searching
almost any illness or disease on the internet
tend to tell you only about the more severe
cases.
If you or someone you love is
affected by NF, the best way to deal with it, is
to find a good support group. This is the best
way for you to talk to and share with others who
are also dealing with the diagnoses.
People living with NF can
live a happy and healthy life. Just start with a
healthy attitude. Don’t be afraid about the
“what if’s”, them “if’s” may never happen.
The way I see it now is that
both my mum and I both have NF, it’s not going
to magically disappear one morning and our
bodies will be free from this disorder. NF is
going to be part of our lives for ever, so why
not make the best of it.
Yes, I have suffered
more than most due to my NF and now I want to
help others by telling them how I have coped
with both the up’s and the downs that NF has
brought me.
You don’t have to be afraid,
you are not alone and if you need a friend, we
are always here for you.
Please e-mail me or leave a message in my forum and I’ll get back to you right away.