If you would have come earlier: A cancer misdiagnosis

National patient safety expert Dr. Peter Pronovost describes what got him started on his crusade:

My father died at age 50 of cancer. He had lymphoma. But he was diagnosed with leukemia. When I was a first-year medical student, I took him to one of our experts for a second opinion. The specialist said, "If you would have come earlier, you would have been eligible for a bone marrow transplant, but the cancer is too advanced now." The word "error" was never spoken. But it was crystal clear. I was devastated. I was angry at the clinicians and myself. I kept thinking, "Medicine has to do better than this."

Advice: Get a second opinion promptly upon receiving a crucial diagnosis.

Read a very different story about the need for a second opinion. Thanks to Claudia Dreifus for the source interview in the New York Times of March 9.

You’ve got to get them home too: An activist patient advocate for children

In 1978, Julia Mikol was born, with severe combined immunodeficiency, which required her to live in a bubble—a completely sterile environment. When she was three months old she had a bone marrow transplant, which gave her a functioning immune system, but left her unable to breathe on her own. She spent the next two years in the Intensive Care Unit at Memorial Sloan-Kettering Hospital in New York City.

Her mother Margaret moved into the hospital to be with her. Because of the huge hospital bills - $350,000 a year – the Mikols exhausted their medical insurance and had to rely on Medicaid. Though Medicaid would pay the huge hospital bills, its rules initially forbade reimbursing the Mikols for caring for Julia at home much less expensively, at about $50,000 a year.

But after a long bureaucratic struggle, the Mikols became the first parents in New York, and only the second family in the nation, to benefit from the rules of a new federal program that allows Medicaid payment for home care for a child like Julia on life support. "The process transformed my personality," said Margaret. "I had been shy and timid, and I became brassy and obnoxious. I changed into a beast to protect my child."

Julia’s condition worsened as she got older. At age eight, she refused a recommended heart and lung transplant, and her parents reluctantly agreed. Before she died, Julia asked her mother to promise to help other children: "You got me home. You’ve got to get them home too."

Sick Kids Need Involved People is the fulfillment of that promise. The organization, with a shoestring budget, has helped 7,000 families deal with their children’s life support, cancer, HIV/AIDS, sickle cell anemia, muscular dystrophy, cerebral palsy, autism, and other conditions. Margaret and her staff help parents navigate the hospital, insurance and Medicaid systems, and assist with school and housing issues, and advise parents on dealing with the sick child’s healthy siblings.

Margaret hopes one day to build a clinically staffed residential community.

Advice: Forward this to your friends with hospitalized children.

Read another of our hero stories, or read Caroline Kennedy’s source story in the June 4 issue of Time magazine.

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.