My name is Robin and I have type 1 Gaucher’s Disease. I have lived with this my entire life. However, I only found out that I have it nearly two years ago. I was pregnant with my second child and my doctor sent us for ‘standard’ Jewish genetic counseling.
As we made our way to the appointment that day, I was under the impression that he had sent us because of my age. I was 34 at the time and all my friends have told me when you hit that “high risk” age you have go for standard genetic counseling.
My husband and I sat waiting for our name to be called very calm and collected, never imagining the real reason for our visit. Then as we sat in our genetic counselor’s office and heard them explain that that I have Gaucher’s Disease I silently began to cry. I was totally surprised and had no idea what they were talking about, what I was going to do or how I was going to even explain to my parents what was going on.
As it turns out, during my first pregnancy, I had undergone routine genetic testing due to the fact that both my husband and I are of Ashkenazi Jewish descent. Here it was discovered that I tested positive for Gaucher’s Disease, but my doctor at the time failed to inform us of this important news. I later switched to a new doctor between pregnancies who upon reviewing my past records sent me to the genetic counselor.
The process of my pregnancy changed drastically that day, now adding a ton of additional tests, screenings and worry. And while the additional stress wasn’t helpful, it was unfounded as my baby and I both made it through pregnancy and the delivery OK.
From the first moments I became aware of my disease through today, I have worked to better educate myself and my family. I have become more aware of my overall general health and now have a complete understanding and view of what the disease entails. Most importantly I have learned that there is an entire community of people who share this with me.
-Robin Pack; Livingston, NJ