Neurofibromatosis

Last week my sister came round for the evening.  In the course of the conversation she mentioned that one of her university friends had had a child who had been diagnosed with Neurofibromatosis.  She tuned to me and said “You should write a blog on Neurofibromatosis”.

So here it is.  As with most of our informational blogs the objective is not just to raise awareness of Neurofibromatosis but also to allow people in the Neurofibromatosis community to share their stories and experiences to the benefit of others.

It is worth stating at the offset that there are two main types of Neurofibromatosis.  Rather splendidly referred to as Neurofibromatosis Type 1 (NF1) and Neurofibromatosis Type 2 (NF2).  This blog will concentrate on NFI because it is the much more common type affecting around 1 in 3000 births.  We’ll come back to NF2 in a future blog.

So what is Neurofibromatosis? Well both NF1 and NF2 refer to a set of genetic conditions which cause the growth or tumours at the end of nerves.  It should be noted that these tumours are benign i.e. non-cancerous.

So what does this mean in practice?  Firstly it is genetic condition which means that people with Neurofibromatosis are born with it.  That being said, in many cases, symptoms get worse of the years.

Typical signs and symptoms of Neurofibromatosis include:-

a)      Café-au-lait spots.  These are a kind of pale brown birth mark.  In fact a lot of kids have them.  But more than six by the age of 5 could be a symptom of Neurofibromatosis.

b)      Neurofibromas – these are soft bumps on or under the skin.

In some cases further symptoms can present which are more serious:-

c)       Raised blood pressure.

d)      Increased risk of developing a cancer known as malignant peripheral nerve sheath tumours.  According to the UK’s NHS perhaps 10% of people with NF1 will be affected by this cancer.

e)      Scoliosis or curvature of this spine.

f)       Some children may present learning difficulties at school

g)      In some cases depression and anxiety are also common.

As of yet there is no cure for Neurofibromatosis but a number of treatments are available.  Surgery for the tumours is common and effective.  Obviously it is important to control high blood pressure and this is normally done with medications.  For learning difficulties and behavioural issues therapy is considered the best course of action.

As we said at the beginning of the Neurofibromatosis blog post we are interested in hearing from people in the Neurofibromatosis community.  It would be great if you could share your story using the comments box below.

It would be good if you would like to think about the following questions when putting together your comments:-

a)      At what age were you or your loved one diagnosed with NF?

b)      What were the symptoms and signs of NF?  How did it progress?

c)       What were and are the effect s of NF on the lifestyle of you and your family?

d)      What treatments were used?  How effective were these treatments?

e)      What one piece of advice would you give to somebody or their families who has just been diagnosed with Neurofibromatosis?

We really look forward to reading your comments.  Please note that these questions are only a guideline.  Anything you have to share will be of huge interest to our readers.

Thanks very much in advance.