World Neurofibromatosis Awareness Day
Neurofibromatosis is not just a mouthful; it’s also a disfiguring and sometimes painful genetic disorder, which as of yet has no cure or means of prevention.
Neurofibromatosis is a hereditary condition which can appear at any point in a sufferer’s life, providing they have the ‘misprint’ in their chromosomes which causes it.
Because it is genetic, there is not much which can be done to prevent it from appearing in those affected.
A generic mutation, neurofibromatosis can manifest itself in lots of bumps and tumors across the body. The tumors are usually non-cancerous, but they can appear in huge amounts and in some cases are quite disfiguring.
This day is about raising awareness about the condition, helping those who have it to better understand it and to help remove the stigma that some have suffered due to its disfiguring aspects.
History of Neurofibromatosis Day
The condition has been around for centuries, with a number of records describing patients with persistent ‘warts’ and what would become known as ‘cafe au lait’ spots.
There are two types of neurofibromatosis.
NF1 can be spotted early on with the appearance of flat brown birthmarks, or freckles in places not normally expected. This type of neurofibromatosis also manifests itself with lumps and bumps on the skin, called neurofibromas.
Because it can cause learning difficulties, it is important that it is picked up early on in a child’s life.
The second type, NF2, tends to start showing itself in teen years or later. It appears as nervous system tumors, which tend to form on the brain and on the spine.
Although the tumors found in NF2 are usually not cancerous, they can cause some health problems such as deafness or hearing loss and some problems with mobility.
Unlike NF1, if you have NF2 you are much more likely to need operations or treatments for the brain or spinal tumors at some point in your life.
For some, it is possible to have the small tumors surgically removed, and this is often an option for sufferers who find that the tumors are causing issues in mobility.
For a large number of people with neurofibromatosis, the symptoms are more than mild enough to get on with a normal productive life. In some extreme cases, however, tumors can cause cosmetic issues and as a result, psychological trauma.
How to celebrate Neurofibramostits Awareness Day
Like many genetic diseases, there is no cure for neurofibromatosis, but awareness days such as this were created to ensure that research into it can continue to make a difference.
One of the biggest steps in beating an illness is to learn about it – and even if you do not suffer from neurofibromatosis yourself, supporting those who do is what this day is about.
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