Hi! My name is Mandy. I am 20 years old and have been dealing with Gaucher Disease most of my life. I was diagnosed when I was 4 and have been receiving infusions every other week for 15 years. I was born in 1987, and I have one older brother, John, who is currently 21 years old. When I was 4 years old, my parents noticed that I did not act like other kids my age. I was really tired all the time, and never wanted to play with the other kids. I would sit and watch while my friends or my brother and cousins would play. I was very pale. My abdomen was also really big because of my enlarged spleen. I developed a mass on my neck, just below my left ear. I went into surgery to remove the mass, and the doctors analyzed the cells. This process took a few weeks, which was a stressful time for my parents and for me as I went through a lot of tests.

At first, the doctors thought I had Hodgkin’s disease, which is a type of cancer, but they then identified Gaucher cells. I got my first IV the day after my fifth birthday at my doctor’s office. Elementary school was pretty normal for me except that my doctors and my mom did not want me climbing ropes or riding a bike, and to generally be very careful in gym class. I got a mediport in 1995 when I was 6 years old. During this period my mother did my IVs at home (she is a Registered Nurse) until my port clogged in 1997 and I had to have it removed.

I had to get my IVs at the doctor’s office again after my surgery. My brother John got tested to see if he had the disease as well, but it turns out that he is not even a carrier. As long as I can remember, as long as I get my IV every two weeks, I am just as healthy as other people my age. When I decided I wanted to be a cheerleader in high school, I had to make sure it was okay with my Gaucher doctor. He