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Thursday, April 5, 2007

Familiarity breeds conclusions: Misdiagnosis of a rare disease

A Boston couple adopted a Vietnamese baby girl, Shira Stein (a pseudonym). Before leaving Vietnam, Shira was coughing. On landing, she seemed dehydrated, but refused to drink. Her new parents brought her to a Harvard teaching hospital the next day, where she was admitted to the intensive care unit (ICU) with severe pneumonia. Doctors found five potentially lethal different infections, which implied an immune system deficiency. The doctors concluded she had severe combined immunodeficiency disorder (SCID)—an inherited condition that is extremely rare in girls.

Doctors at the hospital were very familiar with SCID and similar genetic abnormalities. But Shira’s mother thought otherwise. Week after week, she remained certain that Shira would live. The doctors suggested a bone marrow transplant. Shira’s mother conducted her own research into SCID, and doubted the doctors’ diagnosis. Instead, she suspected that Shira had a nutritional deficiency. Though immune tests had shown Shira had few T cells, her mother insisted that doctors retest her. Shira’s T cells were normal; she did not have SCID. The bone marrow transplant might well have killed her.

Advice to patient advocates:
Respectfully ask the doctor what other diagnosis might account for the symptoms.

Read another misdiagnosis story, or read the source: Dr. Jerome Groopman’s new book, How Doctors Think, as reviewed by Michael Crichton in Sunday’s NY Times Book Review.

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