As part of Gaucher Disease Awareness Month, we’re sharing stories from Gaucher patients, family, and caregivers about their experiences and their journeys.
Want to share your story? Contact us and we’ll be in touch.
The following is slightly edited for formatting and style.
Tell us about your beginnings with Gaucher disease. How did you learn about it?
When I was in my early twenties, I got sick and the doctors did a bone biopsy that confirmed I had Gaucher disease.
I have an older brother that was diagnosed at an early age. My spleen infarcted a few years later.
This was a blessing because I was able to have my children, a set of twins. They grew up watching me get an infusion every two weeks.
How did you get connected with the National Gaucher Foundation?
My physician had inquired about the infusion of Cerdelga through the National Institutes of Health (NIH).
When I began to have new complications, he asked me to do protocol for Cerdelga. While I was there, they gave me the NGF’s contact information.
What message do you want to share with patients and families that are just beginning their Gaucher journey?
There is amazing support out there. Don’t get discouraged and seek the information that’s available to you.
Is there anything that you think the general public should know about Gaucher disease and the greater Gaucher community?
I have been blessed to have a supporting family and lots of prayers. The doctors said that living on a farm and being active has been a positive life style.
If you could describe the Gaucher community in a few words or phrases, what would you say?
Encouragement gives hope and will help you overcome your obstacles.