My son, he turned 3 last week, was born without birthmarks. At his 2 month check up I asked about the "birthmarks" that seem to be appearing and was told that they do not appear after birth but they were probably cafe au lait spots and could be NF but...may be nothing. I too starting reading and checked daily for freckling. He also had a bowed leg at birth. Last month I noticed his ankle was turned inward and immediately was told my his pediatrian that it was time to start testing for NF. My Genetic Doctor explained that Cafe au lait spots could be associated with 80 + other things, so they won't jump to conclusions on that alone. It sounds like you have gone to the NF site, and as it says, it takes a combination of 2 items in order to be clinically diagnosed. There is a blood test for NF1 but it only accurately diagnosises 70%, therfore, if it comes back negative it could be the 30% that it is not capable of diagnosing at this time. My son's second sign was psuedoarthrosis of the lower right fibula (which is a false joint in a otherwise straight bone, which has broke). The problem with the break is that the bone is not normal as we know bones to be, therefore, a strong possibilty that it will never heal. The "freckling" under the armpits and in the groin I would say looks like round freckles, the spots themselves are not any specific size or shape (Cafe au lait in french is coffee with cream) My son has so many now that I stopped counting. Some light, some darker, some oblong (peferctly outined), some jagged and some feckles. They also have a test with a special light that will show "the spots" that the naked eye won't. If you are that concerned and stressed I would certainly ask your pediatrician to recommend a Genetic Doctor. Our pediatrician lined up appointments for lab work, full skeletral x-ray, an ophtamolgist, audiologist, orthopedic doctor and speech therapist visit prior to the Genetic Doctor's appt (since it took 6 weeks to get that appt.) but don't forget he had 2 signs. I have read too many stories on this BB, where parent's wish they had known their children had NF so they would know what to look for. If I had known what "bowing of the legs" really mean't, maybe I could have put Lil' Donald in a brace prior to him walking and have prevented the break. Go with your gut! Doctor's can be wonderful but this is not their child it is yours. Good Luck and God Bless.
[This message has been edited by Lil' Donald's Mom (edited March 27, 2001).]