could familiarity with rare diseases reduce misdiagnosis

Haleigh and David had two children, and they were excited when they learned a third baby was on the way. When Haleigh had been pregnant for 21 weeks, she and David went to the hospital to have an ultrasound to determine the sex of their baby. However, the couple received more than they bargained for.

The health care team noticed an usual lump on the fetus. When Brantley, the baby boy, was born, his condition was even more perplexing. His right leg “juts out like a reddish brown lump of flesh that is thicker than his torso.” His toes are indistinguishable from one another; his legs are filled with damaged blood vessels; and another lump protrudes from his abdomen.

The doctors were baffled, and they didn’t know what was wrong with him. The swelling in his leg and abdomen grew, and other medical complications left the baby fragile. The doctors were unable to correctly diagnose the baby’s rare disease.

Haleigh and David traveled to an out-of-state teaching hospital with the hopes of finding a medical professional who could properly diagnose their baby. The doctor’s eventual diagnosis was Klippel-Trenaunay syndrome, for which there is no known cure.

As their name suggests, rare diseases are uncommon, but is that an excuse for doctors to be unfamiliar with the symptoms? Kippel-Trenaunay syndrome appears in one in 100,000 children, but the family shouldn’t have been forced to travel out-of-state to get the medical treatment they needed for their newborn.

According to the National Organization for Rare Disorders, there are almost 7,000 rare diseases in the United States. It is likely that most doctors would not have first-hand experience working with patients suffering from the full gamut of diseases. However, it’s a doctor’s job to be familiar with all types of medical conditions, regardless of how uncommon they are.

Source: CNN, “A rare disease in the smallest of patients,” Madison Park, March 15, 2012

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