Most rare disease patients spend a good portion of their lives coping with a condition that is either undiagnosed or misdiagnosed. Some of them die of a disease that has yet to be named. Heather Long’s son, Cal, was one of them. After years of searching for answers, she lost her son at the age of five to a disease that had never been diagnosed. Since then, she has made it her life’s work to help others caught in this heartbreaking situation.
In 2008, Heather Long founded an organization called U. R. Our Hope, with Mary Elizabeth Parker, PT, PhD, PCS, NCS, a healthcare professional and professor at Texas State University. It is one of the few organizations that support undiagnosed patients. In Need of Diagnosis and Syndromes Without a Name also help undiagnosed patients, but U.R. Our Hope is the only one that supports both children and adults.
Help for the Undiagnosed
U. R. Our Hope helps caregivers and patients navigate the health system and find appropriate physicians. They also provide assistance with hospital and travel expenses, and offer a once-a-month family support group. Heather Long’s specialty is legislative advocacy.
One of the biggest challenges undiagnosed patients face is that they don’t fit neatly into any category or specialty. As far as medical records go, they are known only by their signs and symptoms. What this means, all too often, is that there is no one to advocate for them.
“You are left to sail without any one’s help,” Long says. “Physicians don’t know what to do with you. You’re not on anyone’s radar because they don’t know what you have. If I took my son to the ER they would ask, ‘What does he have?’ All I could say was that he was undiagnosed.”
Sometimes people are suffering from a syndrome that has never been described. But more often, undiagnosed patients have an identified syndrome that is so rare that few doctors would recognize it. Data from the National Institutes of Health (NIH), Office of Rare Disease Research has shown that there are around 500 diseases common enough to be in any physician’s repertoire for diagnosis, while another 6,500 are known but are exceptionally rare.