Helping you to Understanding more about Neurofibromatosis (NF1)
Many people 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?
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.
If large tumours are close to the surface of the skin, they can be unattractive and may be painful if they are knocked.
How I learned to cope with the help of my family:
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.
Treatment and therapy
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 is at hand:
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.
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.
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.
Nf1 is due to an abnormality on chromosome 17.
FAX: (205) 934-9488
If you or somebody you know suffers from Neurofibromatosis you may find this website very helpful.
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?
Q: Is there a cure for NF?
Q: Is there any research being done for NF?
Q: Is NF the same condition as the Elephant Man had?
Q: Does NF occur more in men or women?
Q: Can someone with NF still donate blood?
Q: Is NF an inherited condition only?
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?
Q: what is the difference between NF1 and NF2?
With NF2 if one or more of the following are present a diagnoses of NF2 is likely.
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.
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 become 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 if you have any questions and I’ll get back to you as soon as possible.