Looking for Information on Neurofibromatosis

One of my good friends is president of the Illinois NF Assocation. Both her kids have NF. If you are looking for information I can get her e-mail address for you. She is very interested in getting the word out about the condition. Her kids have some problems associated with the condition. Her daughter has had several surgeries to remove a tumor/growth near in her neck. She can't move her head very well because of these surgeries, but she is otherwise a normal happy high school sophomore. Her son, who is in 7th grade I think, has learning disabilities and some physical problems (tumors) but other than that he is a happy boy. I've known the kids since they were born. My friend has been very active in Illinois NF and just took over as president last year. Let me know if you'd like her e-mail address. She is a wealth of information.

Hi S.!

I do not know too much about it but my 2yr old daughter has an appt w/a Genetics Dr. on 3/9 to see if she is diagnosed with it. Right now the most I know is that they will have to keep up w/regular visits for eyes (due to periphial vision) and blood pressure.
We went a year ago due to her Cafe Au Lait (not sure on spelling) spots and at the time was not diagnosed with it but was given a 95% that she would be in a year... I guess we'll see.
I was also told that the spots will never go away and that they could become like moles (3 dimensional).
A year ago she had no other symptoms that of neurofibromatosis, according to the dr.
Oh yes, my daughter has a swelling under one of her eyes that they believe may be in conjunction with this. These 2 symptoms she has had since a wee little one and they have not gone away. Actually, she has seemed to acquire more spots.

Please let me know what you find out.

Thanks,
C.

S.,

The websit www.nfinc.org looked like a good one. It had a book written from a child's perspective about the condition but I didn't look at it. Usually these educational national web sites are a good source of information/resources for patients and families. Good luck. A.

I have it. There are two kinds: NF-1 (which I have) and NF-2. It is a genetic disease that has a very varied phenotype ie it affects different people differently and can range from mild to severe. There are genetic tests for both types. There is a national neurofibromatosis society. Most people who have it have a 50% chance of passing it on in the next generation as it is an autosomal dominant gene. The exception is someone like me, who is what is known as a mosaic ie only has the mutation in a limited number of cells. Dr. Charrow at Children's Memorial is an expert and they have an NF clinic. I would go to him if you need info. I have a daughter and did prenatal screening to ensure that I didn't pass my disease along. People will have different opinions on that. My recollection is that my NF-1 symptoms were not visible until I was around 2.

I had a girl in my daycare diagnosed back in fall of 05 with NF (the more severe form). She was a younger 2 yr old and had multiple light colored birthmarks in her private area. And since she was crossing her eyes they took her to the eye dr. and were diagnoses there when she turned out to have a tumor on both eye nerves. She had to go for chemotherapy. It is genetic and testing showed her mom has it, a very very mild case. Both the mom and girl have to go for full body MRI's every 6 mos. The eye tumors are gone, as of a year ago, but the girl lost some vision due to them. She also had other issues with the chemo regressing her skills.

But overall she is a great, normal, friendly kid who is doing GREAT in kindergarten and already starting to read.

There are support groups for this.

I dont know anything about it but, if you go to web med you can find alot out.