I think you are doing the right thing by strongly encouraging her to get him tested. I hope you can keep at her. She needs to get him to the dr.! She is that little boy's only advocate. Is it possible to further encourage his mom to get him tested by explaining how much easier it is to either (1) rule out CAH,or (2) get him treated right away. If it turns out not to be CAH, she can just put that out of her mind completely. If it is CAH and goes undetected, he can go into a crisis, suffer heart damage and even death. My son was diagnosed through newborn screening at 7 days old. We saw no outward signs of his saltwasting CAH except that he was not gaining weight. By the time he was admitted to Children's Hospital (at 8 days old) his sodium and potassium levels were so off they thought he would most likely suffer heart damage. We were SO FORTUNATE, his heart was perfect. I think often of how I didn't want to hear that he had CAH, I had no idea what it was or what it would mean for him. At the same time, I am no so grateful that he was diagnosed so quickly so all we are dealing with is CAH, not heart problems, or worse. Of course it is scary at first, but it is sooo much better to know. Even if her son doesn't go into crisis soon, she will end up dealing with a toddler in puberty. I hope you can convince her this condition is very treatable, but also very deadly if untreated. Good luck! Please keep us updated.