Did you all know that May if Neurofibromatosis month?
Have any of you even heard of Neurobiromatosis? I bet not.
Neurofibromatosis (NF) is an autosomal dominant disease - meaning either you have it or you don't. There are no carriers.Men/women have an equal chance of getting it. If you have it, you have a 50% chance of passing it on. Approx 50% of cases are inherited, but the other 50% are whats known as "spontaneous mutations" , meaning the gene some how mutates during conception. No one knows why.
It affects about 1 in 4000 people.
NF is a progressive disease. It causes benign tumours to grow along neural pathways in the body. It effects everyone differently. Some people may only have a few "fibromas" - soft lumps on the body, others can have huge tumours. It gets worse with age. In women, puberty, pregnancy and menopause have also been known to cause the disease to progress.
It is diagnosed by have several symptoms:
1. The presence of cafe au laits spots - brown, circular flat spots located anywhere on the body. 5 or more indicates NF
2. Lisch Nodlules - oval like forms seen on the iris - only seen by using an opthalmascope
3. Freckles in the arm pits and groins - areas "normal" people do not have freckles.
4. The presence of fibromas (soft tumours growing under the skin) or plexiform tumours - (a tumour that involves many nerve pathways).
5. A family hx of NF
There is no cure. The only treatment of the tumours is surgery - and sometimes they grown back. Sometimes they become malignant.
It is an unpredictable disease. Some people may only have a few cafe au lait spots, others have massive tumours.
So, that is just a brief over view. Feel free to ask questions.
For the record - I have NF, I am an spontaneous mutation . I have had 9 operations to "debulk" a large plexiform tumour that exists around one of my eyes. I will probably need OR # 10 soon. Just need to work up the courage to do it.
May 18, '15
Sorry to hear that you have it. I had a cousin who was born with it. It was very aggressive and he died in his late teens. I will keep you in my thoughts. Let us know when your surgery will be.
May 4, '16
Bumping my post from last year. Hope it gets a bit more attention this year.
For the record, still need to go for surgery #10, the timing just hasn't been right yet.
May 4, '16
Sorry to hear that you have it Pepper.
One of my children went through rule out testing for NF last year. He has 4 spots but the eye exam was normal.
We had a genetics consult which resulted in a "wait and see" approach. We also saw a Pedi dermatologist during that time.
He was diagnosed with X-linked ichthyosis after all was said and done.
May 4, '16
Ugh. I had been reading up on this when my Big Kid was a baby, thinking he had it. He did not. I'm sorry for your suffering, Pepper, and for the others here who have lost loved ones.
May 4, '16
I am keeping you in my thoughts Pepper. Please keep us posted on your surgery.
May 3, '17
Bumping again this year.
Again, I know it won't get much attention but if it gets even one more person informed, I am good.
I had surgery #10 last November. Still having some issues with that but am doing OK.
Developing more fibromas but most of them are in areas covered by clothing so that's OK except when they start to itch!!
Just trying to get this info out
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