May is Neurofibromatosis Month

Pepper The Cat, BSN, RN · May 18, 2021

Did you all know that May if Neurofibromatosis month?

Have any of you even heard of Neurobiromatosis? I bet not.

Here goes:

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% known as "spontaneous mutations" , meaning the gene some how mutates during conception. No one knows why.

It affects about 1 in 3000 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 10 operations to "debulk" a large plexiform tumour that exists around one of my eyes. Once Covid is over I will probably need to look in # 11.