"To encourage this kind of collaboration, Rienhof created MyDaughtersDNA.org. The Web site, launched in October 2007, invites parents to post the clinical histories of their undiagnosed children. The hope is that geneticists will also frequent the site, to help identify rare disorders and use the case studies to further their own research. One of the first people to post to the site was a Bulgarian man named Stefan Petkov, who wrote about his 12-year-old daughter. The girl had weak limbs and speech problems; she also lacked the ability to shed tears. Doctors in Bulgaria were stumped, and DNA tests done in both Belgian and Bulgarian laboratories didn’t point to any known genetic conditions. Gary Gottesman, a geneticist at Saint Louis University School of Medicine in Missouri, came across Petkov’s saga after reading about MyDaughtersDNA.org in the journal Nature. The girl’s inability to cry made him think of a disorder known as Triple A syndrome. He suggested that Petkov have his daughter checked for the disease. Less than a month later, in March 2008, Petkov wrote again. His daughter had finally been diagnosed with two of the pillars of Triple A syndrome, the most notable being Addison’s disease, which limits production of the hormone cortisol. Shortly thereafter, Petkov’s daughter began receiving medicine to replace the hormone, which should help build her muscle strength."
Obviously this is our "Holy Grail" and maybe we will get the answers we have been looking for. I encourage you to read the article written about this father, it is excellent.