NGF Mentor: Christine C. Stanton

Christine C. Stanton
Georgia
Adult with Gaucher
Email: chris_stanton@comcast.net

I was diagnosed with Gaucher Disease when I was in my late thirties. Prior to that time, there had been mild symptoms which had been misdiagnosed as anemia, arthritis and Padgett's Disease. So I was lucky to have grown up very normally, with no restrictions on activity, sports, etc. However, when I was pregnant with my daughter, the Gaucher Disease went into "overdrive" in my system, and was diagnosed by a bone marrow test when my blood counts became incredibly low. It was quite a shock to discover at 20 weeks pregnant that I had a chronic disorder that would require therapy for the rest of my life! By that time, my liver and spleen were quite enlarged and I had some involvement with one hip bone and femur. Lucky again, it was caught before too much permanent damage occurred and everything except the bones are back to normal, after receiving enzyme replacement therapy since 1993.

I have a wonderful husband and daughter, and my infusions are just part of everyday life now. My nurse is one of my best friends! My career was never affected, since I was able to have my infusions at home either at night or on weekends, and I enjoyed more than 20 years in the hotel/resort industry. I now work with my husband part time as a convention broker, specializing in site selection for companies and associations looking for the perfect destination for their conventions. My daughter does not have Gaucher, is a sophomore in high school, with many activities, and has just accomplished her goal of becoming Drum Major for next fall's marching band season!

My sister, who lives near Philadelphia also has Gaucher Disease, and also receives enzyme replacement therapy and lives a very normal life. However, we are the only ones in our family who have Gauchers, and there is neither a history of the disease in our family, nor any Jewish ancestry to our knowledge.