My name is Tamara Isaacs Ciocci and I have type 1 Gaucher Disease, a rare lysosome storage disorder that occurs when someone is born without the enzyme glucocerebrosidase that breaks down lipids in the cells. The result is a disease cell that accumulates in the blood, bone marrow, liver and spleen.

Gaucher affects only 1 in 45,000 people overall, but among Ashkenazi Jews the rate is much higher at 1 in 850. It is one of several genetic diseases that disproportionately affects our community.

Despite the fact that my father was a doctor, it still took 21 years for me to get an official diagnosis. And like me, up to one-third of Gaucher patients are initially misdiagnosed with a number of other conditions, including cancer, lupus, or leukemia.

My childhood was riddled with illnesses, but no answers. My earliest symptoms were probably apparent from infancy, but my first significant symptom was when I broke my left hip at 18 months by simply falling off of a bed. The hip break was eventually written off as a freak accident, but I was still continually sick. Whatever my siblings brought home, I would wind up with bronchitis, pneumonia and croup. There was always an initial pattern: sore throat, fever and bone pain. By the time I was eight years old, these illnesses were accompanied by an enlarged spleen, liver and low platelets. I was misdiagnosed with a number of conditions, including juvenile arthritis and leukemia.

At age 11, at the beginning of 6th grade, I fell ill with what appeared to be mono. This episode took on a completely different trajectory. My dad was taking lab work at my bedside. Different colleagues with different specialties were examining me in my room before and after work. I had a home tutor from the school that tried to teach me as I laid my head across the kitchen table. Once an avid social and enthusiastic student, I was so sick that year I missed more than 3/4 of the 6th grade.

At 14, a rheumatologist misdiagnosed me with lupus, and prescribed steroids and an anti-malarial drug. I stayed on steroids for seven years, adding 45lbs of fluid weight to my frame. Over the next few years, my waist grew to 42” from the enlarged spleen and liver. My platelets were so low, I was restricted from all activities to avoid the risk of internal bleeding or rupturing my spleen.

By the time I went to college, my life was no longer congruent with who I wanted to be. During my junior year, I fell off my bicycle and landed in the ER. A bone marrow biopsy came back positive. Finally, at age 21, I was diagnosed with type 1 Gaucher disease.

Having a chronic illness means you are always second guessing yourself. I am constantly debating about which ailments are serious enough to report. What makes it even more difficult to live with a rare disease is knowing very few physicians in the world are even aware of the condition, let alone how to treat it. A simple trip to the doctor’s office can be very frustrating.

Now married with a beautiful family, I have started working again. I continued to battle the bone pain, fatigue and poor immune system, but just having a diagnosis now gives my doctors the tools to manage my condition.

Why, you might ask, should you care about Gaucher disease? When we learn about one rare orphan disease, everybody wins. Gaucher disease research has led to new insights on multiple myeloma and Parkinson’s disease, both complications of Gaucher.

Want to learn more about Gaucher disease? Rare Disease Report recently published a guide, “Gaucher Disease and the Potential for Misdiagnosis. You can find more information on their website here.

About The Patient

Tamara Ciocci lives in Duxbury, MA and was diagnosed with Gaucher disease in 1985 at the age of 21. Tamara is a member of the Genzyme Gaucher Partners program and speaks on behalf of Genzyme Corporation.

2 thoughts on ““My Life Was No Longer Congruent With Who I Wanted to Be” a Long Road Leads to Gaucher Type 1 Diagnosis”

  1. Emma Rooney says:

    I can relate to your comment, “I am constantly debating about which ailments are serious enough to report.” Advancement in research depends on patients reporting but we risk not being taken seriously when we say too much. Thank you for articulating this challenge of managing a rare disease and also helping people to understand why diagnosis can make such a difference.

  2. Tamara Isaacs Ciocci says:

    Thank you for sharing that thought! I think most patients have been through so many wrong diagnosises, they get tired of going through any more exams or testing. Gaucher is so rare, most physicians haven’t heard of it and it’s hard to get to know a patient just by a Google search of the disease! That always amuses me. I do know, building trust with one of your physicians is key to opening a dialogue. I wish you all the very best, Tamara

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