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A look at one woman’s long journey to diagnosis and treatment of rare disorder

This week’s Medical Mysteries column in The Washington Post tells the story of a woman who lived with debilitating vertigo and odd tinnitus. Baltimore's Rachel Miller lived with dizziness, the exaggerated sound of her heart and breathing and even anomalies with her vision for five years before she was diagnosed and treated. Many of the doctors she saw dismissed her symptoms as psychosomatic and Miller even went through a period when she stopped seeing doctors for her condition. Miller described her travails this way:

“I had started to feel like a person in one of those stories where someone has been committed to a mental hospital by mistake or malice and they desperately try to appear sane,” recalled Miller, now 53. She began to wonder if she really was crazy; numerous tests had ruled out a host of possible causes, including a brain tumor. Continuing to look for answers seemed futile, since all the doctors she had seen had failed to come up with anything conclusive.

But then she went to see David Zee, MD, who diagnosed her strange symptoms as a rare disorder called superior canal dehiscence syndrome (SCDS), when a small hole or a thin area of the temporal bone allows the fluid of the inner ear to touch the brain, transmitting sounds from the rest of the body, like our heartbeat or breathing, or even the movement of our eyeballs. John Carey, MD, operated on Miller, filling the small hole with bone and other tissue from the skull. As the piece notes, both Carey and Zee trained with Lloyd Minor, MD, now dean of the Stanford School of Medicine, when he was at Johns Hopkins University. Minor discovered SCDS in 1995 and developed the surgical treatment that Miller subsequently received in 2012.

Miller has recovered now, with only occasional problems when she gets a cold. But her story points out how difficult it can be to diagnose rare medical problems.

Previously: NIH network designed to diagnose, develop possible treatments for rare, unidentified diseases and Using crowdsourcing to diagnose medical mysteries
Photo by Mikael Tigerström

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