My daughter is now 7, very healthy at this point. She was not keeping up with the growth scale at 2 and 3 years old, very greasy, smelly stools. I finally convinced our pediatrician that something was not right, she referred us to Pedi GI at St Louis Childrens. They put her on Creone, a digestive supplement and her growth improved. This summer at her 6 month check at SLC, there was a new Dr who determined that she may have JBS. I was stunned, to say the least. She has what we thought was a large "cow-lick" on her forehead, and they pointed out that her nose was "beak shaped". She has not lost any of her baby teeth yet, so today we are seeing an orthodontist to determine if she does have primary teeth. Initial x-rays show she is missing some, but not all. The Dr is trying to get her in a study, but states there is no genetic testing available in the US at this time. They don't seem very concerned, just tell me that we'll treat her symptoms as they appear. I'm very concerned about her pancreas, developing diabetes, etc.
Sorry for the long post. Where are you located and do you have a Dr who specializes in JBS? I know there is no treatment, or cure for this but I just wish I could be a little more pro-active in her care.