Finding the right diagnosis for a rare medical disease.
How frustrating it must be to not feel well and yet be unable to find a physician who can help. Even when doctors order an enormous battery of tests, as many do these days, the cause of a chronic problem may go undetected. I remember when I was doing some additional training in neuromuscular disorders and the head of the unit asked me to see a child with hip pain. The child had been referred to him for a possible disorder of the muscles. After taking the history and doing a complete examination, I had no doubt that the child had juvenile rheumatoid arthritis (JRA) and should see a pediatric rheumatologist. The head physician didn't believe me and multiple tests, including a muscle biopsy, were done. A year later, I received a call from the doctor who said, "Do you remember the child you thought had juvenile rheumatoid arthritis?" "Yes, I said. " "Well, you were right.", he said. Yet it took a year for the diagnosis to be made and it was a year when the child should have been receiving treatment. With JRA, as with the other collagen disorders, the faster treatment is started the better the results. In an article by Mary Fischer in the AARP magazine, she notes that the most commonly misdiagnosed diseases are; Lupus (a collagen disorder), Lyme disease, multiple sclerosis, fibromyalgia, celiac disease, Parkinson's disease, and chronic fatigue syndrome. She says the NIH has a Undiagnosed Disease program and twenty-five million Americans have a rare disease. The Mayo Clinic has noted that twenty percent go undiagnosed. An excellent organiztion to consult is NORD, the National Organization of Rare Diseases at 1-800-999-NORD.