Although medicine has made tremendous advances in understanding genetic diseases, some people, often children, still face a years-long or never-ending diagnostic odyssey. A typical patient with a rare disease waits six to seven years before learning the cause of their condition. Along the way, they are often misdiagnosed, given useless medications or treated only for their symptoms rather than their underlying disease. Rithvik Kottapalli, 16, still doesn't know what genetic glitch causes his loose joints, blood clots and inability to digest food. And no one can explain the infections that regularly descend on 6-year-old Harper Jamrosz. Kottapalli’s severe case of what's called prune belly syndrome – because lack of musculature gives the area a shriveled look, like a prune – left him unable to eat or digest food. He's fed every night through a central line, and his stomach and bladder empty into Foley bags. Although he has had the best possible medical care, no one – so far – has been able to figure out whether Rithvik's many problems are related to one another or why he has more than one rare condition. 6-year-old Harper Jamrosz has spent long parts of her short life in a hospital fighting off infections. She catches every possible bug and ends up with high fevers, diarrhea and vomiting. She has had liver biopsies, colonoscopies and gastric tubes threaded into her digestive system. By the time she was 2, Harper had seven diagnoses, "a whole gamut of autoimmune diseases and no reason as to what was causing all this autoimmunity," said her mom, Chantel The family considered getting Harper a bone marrow transplant – wondering whether little brother Parker, who seems healthy – would be a good match. But without knowing what's causing her condition, they worry a transplant could cause more harm than good. About 1 in every 10 people worldwide suffers from a rare disease. For every one, an accurate diagnosis matters. Their journey for care can begin only once the search for a cause ends. Read more about these