Hi Jay, welcome to website.  I went through a similar process in being diagnosed with CESD.  I was misdiagnosed with several other rare disorders before getting an accurate diagnosis from a pediatrician who specializes in genetics.  It has been about three years since I had received the news that I born with a rare genetic disorder that few knew a lot about. It is amazing the amount of research that has been done in the past three years about lysosomal acid lipase deficiency.  I am currently participating in a clinical trial that has had a tremendous impact on my life.  I would be happy to discuss in more detail the process that I went through in getting diagnosed with CESD and some of the very encouraging news that is out there for CESD.