Tamara Isaacs Ciocci spent 21 years searching for a diagnosis for her type 1 Gaucher disease–despite the fact that her own father was a doctor.
Although, that’s not too surprising because Gaucher affects only one in 45,000 people; but among eastern European Jews (Ashkenazi), the rate is one in 850 people. Like many other Gaucher patients, Tamara was misdiagnosed with cancer, lupus, and leukemia before arriving to an accurate diagnosis.
Gaucher disease causes fats to build up in the patient’s liver and spleen; and it also causes bone thinning.
At 18 months old, Tamara rolled off a bed, and the result was a broken hip, which her parents wrote off as a freak accident. But by the time she was eight years old, she was constantly sick with bronchitis and colds, and her spleen and liver were enlarged.
Three years later, she became ill with what seemed to be mono. Her father began taking lab work at her bedside, and began having his colleagues–across many different specialties–evaluate her before and after work, but her condition remained a mystery until she was diagnosed at 21 years old.
Part of Tamara’s frustration is how few doctors are aware of or understand Gaucher disease. She would like to see more awareness about the disease so that others can be spared from the pain and uncertainty she endured throughout the first part of her life. To that end, Tamara is a member of the Genzyme Gaucher Partners program.
Read more here.
