I have Neurofibromatosis, and so does my Nan, Mum, my Uncle had it but has passed away from an unrelated condition and my son Charlie has it.
How it affect me……….
I have the cafe au lait marks on all other my body, I also have a lot of neurofibroma, some of which I have had removed as they irritate me. I also have the Lisch nodules in my eyes but these don’t cause me any problems that I am aware of.
I guess You might say I have mild learning difficulties mainly with maths, but this hasn’t stopped me from doing things.
I am just hoping Charlie will not suffer to much with it.
Here is some information I have copied off the Internet about the condition.
What is Neurofibromatosis Type 1?
Neurofibromatosis I is a hereditary condition usually passed from parent to child (autosomal dominant), but in about half the people with Neurofibromatosis 1, there is no history of the disease in the family. If the parents of a child with Neurofibromatosis Type 1 do not have the disease, then any other children they have are not at increased risk of the disease. But the children of a person with Neurofibromatosis I stands a 50-50 chance of getting the disease from that parent.
The most common feature of Neurofibromatosis I are skin lesions called a cafe au lait spots. These are flat, smooth, medium to light brown irregularly shaped spots than can occur anywhere on the skin. Many people have one or two cafe au lait spots, and these are often called birth marks. If a child has six or more cafe au lait spots measuring at least half a centimeter (about a 1/4 of an inch), then he should be carefully followed to see if he develops any more signs of Neurofibromatosis I. A second skin finding is axillary freckling. What makes these axillary freckles different in Neurofibromatosis Type 1 is that they occur in places not usually exposed to the sun like the armpit (axilla) and groin.
After the age of three years, many children will develop Lisch nodules in their irises (the colored part of the eye). These can be detected by an ophthalmologist using a special piece of equipment called a slit lamp. These growths do not affect vision.
Another finding is called a neurofibroma, a soft fleshy growth (or tumor) just under the skin, but a neurofibroma can be deeper in the body. A neurofibroma can be large and have many finger like projections in which case it is called a plexiform neurofibroma. Most people with Neurofibromatosis do not develop neurofibromas until puberty. Because a neurofibroma can occur anywhere in the body, there are many possible complications from them. Sometimes these tumors can become malignant (cancerous) or they can affect vital organs. One complication is the development of a tumor along the nerve going to the eye. This is called an optic glioma and can lead to blindness, unlike the Lisch nodule. Although many people without NF may have a neurofibroma, they usually do not have many.
Another sign of Neurofibromatosis I can be certain deformities of the bone. For example, there can curvature of the spine (sclerosis) or an enlargement of a bone in the arms or legs leading to a leg length discrepancy. Other bony defects can be bowed legs and thinning or absence of the bones forming the eye socket. A large head is also sometimes associated with Neurofibromatosis I.
Finally, about half the people with Neurofibromatosis I have learning disabilities that can range from mild to severe. Learning disabilities are about five times more common in people with Neurofibromatosis I than in those without the disease.
How is Neurofibromatosis Type 1 Diagnosed?
Doctors look for the features mentioned above like café au lait spots, neurofibromas, Lisch nodules, and bony deformities. If there is a parent with Neurofibromatosis Type I and the child has at least one of the findings above that suggest Neurofibromatosis I, then the diagnosis can be made. If the parent does not have Neurofibromatosis I, then the doctor will look for a least two of the above findings. Because the various features do not develop at the same time, the doctor must periodically reexamine the child for new findings. If the child reaches adulthood without meeting the criteria for Neurofibromatosis Type I, then she probably does not have the disease. If there is a family history of Neurofibromatosis I, genetics testing can be performed.