Neurofibromatosis Support Group

What do you mean by "other main symptoms"? My daughter only has cafe au lait marks and they diagnosed her based on the fact that she had freckling on under her arms, on her neck and groin area. They told me that there was no "test" they could do but that people are diagnosed when they display two or more criteria

Cafe au lait marks (6 or more of a certain size)

freckling in areas that do get sun, i.e. groin area, under arms

optic lyche nodes (sp???)

neurofibromas

etc, etc.

If you go to any NF site, they will list the symptoms.
Have you seem a specialist that could diagnose you?

You can get alot of good info on WWW.CTF.ORG

It is a good information for anyone that has NF.

It is the other NF site I belong to.

I am on there as Bitty also. Let them know you are new and everyone like here is wonderful...

Gabby0 is right there are no test for NF, I was born with it and did not know I had it will I was 10 when they removed a tumor off my foot and back in 1980 no one knew bout NF.

My daughter who is 16 has 2 cafe spots but no other signs.

I was also MAJORLY learning disabiled, but it was not till i was in HS that they let me show what i really knew other than to put me in special ed and get all A's and be board. So I am thankful for my HS teachers that listened to me and let me go into reg classes. I did not get all A's mainly B's and C's but, I was in normal classes.

Bitty

If you want to know for sure, there is a genetic test. It sounds like you may have a very mild case of NF if you have it at all.

try not to be angry :). If it wasn't picked up, it just means your symptoms were too mild to be noticed. and that's a good thing

With that said, if you have five CAL spots that are 1.5cm, technically you don't even fit one criteria of NF dx. The smaller ones, are they like freckles and are concentrated around your groin/arm pit?

There are rare cases of people just having lots of CALs w/o NF but I don't know any stats for that.

If you want to pursue wether you have NF or not, I'd recommend going to a NF specialist plus an opthomologist to check to see if you have lisch nodules or not. I do have to warn you that some of eye doc's I've seen did not pick them out.

Hi there! In this case there are several options.
#1. It is possible that you have a mild form of NF and your second criteria has just not appeared yet. Rare but not unheard of. There are folks that don't get diagnosed until they have offspring with NF and then those offspring become their second criteria.

#2. Something else to consider is the possibility that there is a second sign that you are just not aware of. Several of the signs are internal and would require some type of imaging test (MRI or CT scan) to show up.

#3. There are other disorders with CALS.

#4. You could possibly have familial CALs. Not common but again not unheard of. A spred-1 mutation is an example of that. These folks have CALS, large head, and a few other milder symptoms but do not have NF.

#5. You do not say if your CALS all appear in one location or not. Sometimes people with segmental NF or NF from mosiacism (meaning it isn't in all of their cells) can have NF but only get the spots. Others only get neurofibromas. Some get both. Those folks rarely get any of the more serious complications of NF.

There are genetic tests for both NF1 and Spred-1. If its segmental NF then the test would most likely come back negative. A geneticist really is your best bet, but preferably one with lots of NF experience. If you have a test for NF and it comes back positive then the geneticist can also explain the options to avoid having an NF affected child. Yes, there are options.

Good Luck!