Siblings Share Life-Threatening Mystery Disorder- What was it?

Her Brother Said The Diagnosis Was Impossible; She Wasn’t So Sure

Source: the Washington Post

In February of 2006, Sheryl Stein of Arlington, Virginia, knew something was wrong. She was suffering from nosebleeds and mystery bruises, and after a much heavier than normal menstrual period, she saw a doctor.

After blood tests showed her platelet count to be dangerously low, she was immediately hospitalized. Sheryl’s doctors began doing further testing, and she was receiving emergency blood transfusions. She was terrified that whatever battle was going on inside of her would kill her before doctors could find a diagnosis, and she would leave behind her husband and two young children.

Doctors ruled out leukemia and other blood cancers, and an infectious-disease specialist suspected Sheryl’s immune system might be responding to some other disease, a condition called immune thrombocytopenia purpura (ITP).

Stein’s brother, a doctor himself, had been diagnosed with ITP years before. He was shocked, as ITP is not a known genetic disorder. However, his ITP was a result of common variable immune deficiency (CVID). That’s when the bells started going off.

Stein and her brother met with a hematologist, and after much discussion and reviewing the results of her previous blood tests, she was treated with an infusion of intravenous immunoglobulin (IVIG), which had antibodies from the plasma of blood donors.

It worked.

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She was later officially diagnosed with CVID, and researchers became intrigued at the idea of genetic connections between CVID patients based on the fact that Stein and her brother both have the disorder. They have since participated in studies at National Institutes of Health (NIH).

While she’s glad to have a diagnosis and a treatment, Stein is loath to have to receive infusions for the rest of her life. “I don’t want to live in a bubble…It sucks to have this, but there’s power in knowing that I do,” Stein said.

Her diagnosis also formed a stronger bond between her and her brother, a bond different than one that siblings regularly share. “I know when weird stuff happens I can call him. There’s something wonderful about knowing that he’s there and that he understands.”

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