My name is Jenni Blustein and I have Gaucher Disease. I had just moved to Chicago from Detroit in 1995 at the age of 29. One day, while I was in temple, I suddenly felt like I was going to pass out, which I did. Since I was new to the city, I didn’t have a doctor yet. Thankfully, my new boss helped me find a doctor who told me that my platelet count was low. He sent me to a blood specialist at Northwestern University in Evanston, Illinois.
After some tests, I was diagnosed with Lupus. I went for a second opinion, was given a bone marrow biopsy, and was then diagnosed with Leukemia. Neither of these diagnoses were correct.
My family and I were terribly upset by this situation. I went to the Mayo Clinic in Rochester, Minnesota to finally get the story straight. After many tests, it was determined that I have Gaucher Disease and that I was borderline anemic. I let my mom and two sisters know, and they proceeded to get tested as well.
We figured out that my dad, who had passed away in 1992, had to have Gaucher’s, since he had most of the symptoms including liver disease, spleen issues (and finally removal), and heavy bleeding, which were undiagnosed. My mom is a carrier, one sister is positive, and one sister is a carrier. After calling the National Gaucher Foundation, we were given a caseworker and a doctor who specialized in Gaucher Disease. I started receiving enzyme replacement infusions at Northwestern University hospital in Chicago.
I moved To Florida in 2008. I’m now under the watchful eye of world renowned Dr. Neal Weinreb in Boca Raton. Dr. Weinreb is on Youtube and has a lot of information to share. He suggested I try the oral medication Zavesca which gave me a lot of stomach issues.
I went back to infusions for awhile, and am now on Cerdelga which I take twice a day. Since being diagnosed, my liver and spleen size have shrunk. I get MRI’s twice a year and the last one came back with great results!-Jenni Blustein; Delray Beach, FL