Meet some of the most unique patients in the world, as well as the physicians who worked to solve their mysterious and debilitating rare bone diseases. In this season of the DDx podcast, we explore the complex world of rare bone diseases and how advances in medical research are offering patients more options and more hope.
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It starts small. A slight pain in the foot, followed by an achy shoulder. There’s some fatigue. The type of non-specific symptoms that often go ignored … until they can’t be anymore.
In 1964, Nancy, a 5-year-old, is having her evening bath when her parents discover she has a lump on the skull the size of a grapefruit. This would mark the onset of a mysterious and debilitating disease that researchers are still struggling to understand.
A patient in her mid-50s complains of foot and leg pain. She’s post-menopausal with low bone density. A classic case of post-menopausal osteoporosis.
Not exactly.
A toddler is taken to his pediatrician because his parents are concerned he might be small for his age. The pediatrician diagnoses him with knock knees, but there’s no cause for alarm.
A 23-year-old presents to the emergency department with progressive symptoms. It starts with tingling in the fingertips that lead to leg cramps that turn into feeling like she’s turning into stone, frozen in one position with stabbing pain. And perhaps most troubling, she can’t concentrate. In fact, the brain fog is so severe that she’s afraid to drive.
An infant is born with no complications in a hospital in Los Angeles. Within days, that same baby will suddenly have mysterious arterial calcifications, making him one of the most unique patients in the world.
