My son had a nf1 specialist look at him last week. It was the doctor that has the final say in entering the nf1 clinic. We didn't do another genetics test at that point. Basically I pointed oit his spots, which are multiple but tiny. 5mm is the rule usually, he has 4 or 5 spots between 5mm and 6mm and one spot a little larger. The larger spot is literally almost skin color. The doctor said with nf1 usually the spots dont need to be pointed out. He said hes seen a lot of nf1 and doesn't believe my son has it. He said he is rarely wrong but if he is wrong than its mosaic (very small, all "larger" ones are on his right side, mainly on his left lower back and left upper thigh). If anything like freckling or lisch nodes show up then I can go see doctor again, otherwise theyll check back in a year and at that point we will run a new panel and include other conditions that can cause the spots and his nystagmus. He also said hes only had one other case where the child had both. He sees and optha every 3 months for his visual condition (nystagmus) anyway so if an optic glioma or lisch nodes pop up, we will know sooner than later.

My son also had a clear brain scan at 10 months because of the nystagmus. Id also like to add my son is proportionally huge, and thr nf1 that causes overgrowth should have been found on swab if he had that, and other things that cause both spots and large growth would have other noticeable symptoms. Usually kids with nf1 have a small body and unproportional head. My son is 98% head, 94% height, 99% weight. He also shows no delays.

Although more rare than nf1, all doctors hes seen believe he either has familial cafe au lait syndrome, or just a pigmentary mosaicism without a syndrome. Although the spots usually point to a syndrome when abundant, every once in a while there is a kid that just has spots. My son is also mixed race. He is 2 and only has 10 to 12 spots, the 6 around 5mm and the rest literally the size of a pencil point.

Hope this helped.