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The following, as conveyed by Rivka Silver, is slightly edited for formatting and style.
Tell us about your beginnings with Gaucher disease. How did you learn about it?
I learned that I had Gaucher disease after my sister found out she had it while doing prenatal genetic testing. It came as a big shock, as I’ve always been healthy. I found out about all this when I was 21.
After undergoing all the initial testing, they found that I had osteoporosis. After about 2 years, it was decided that I would begin enzyme replacement therapy. This was hard for me to accept as a young adult who would need to receive infusions every 2 weeks.
I was scared how people would view me and didn’t want to be seen as a sickly person. I was also terrified of needles, but after beginning the infusions, I can now take them out all on my own. In terms of how people have accepted me, Gaucher has not impacted my friendships or relationships.
I became very interested in other ways to help manage my symptoms and found the importance of the brain gut axis. With Gaucher being an inflammatory disease, I started researching how food, the nervous system, and supplements all played a role in my healing and wellbeing. It inspired me to study holistic nutrition in the hopes of being able to help the Gaucher community in the future.
How did you get connected with the National Gaucher Foundation?
I got connected to NGF through Dr. Robin Ely. About 2 years ago, I was in pain and tired and felt that my symptoms weren’t being taken seriously, so I turned to a more functional medicinal approach. That’s when I found Dr. Ely, who met with me and spent hours going over my labs and really listening to me as a patient.
What message do you want to share with patients and families that are just beginning their Gaucher journey? Are there any lessons you’ve learned that you think they should know?
I want you to know that it seems scary at first, but some of the best doctors in the world are on your side.
I remember when I was first diagnosed, I cried because of the stigma around genetic diseases – thinking that I would never get married or have kids. I’m so overjoyed to share that not only am I happily married, but I also had a beautiful happy baby boy 4 months ago and am living my dream life.
Gaucher is a big part of my life, but it has never once stopped me from living my best life and accomplishing my goals.
Is there anything that you think the general public should know about Gaucher disease and the greater Gaucher community?
The general public should know that Gaucher is a common genetic disease, and Type 1 can be easily treated. I think it’s important people are aware how much proper vitamin intake and nutrition is important to all aspects of our health.
If you could describe the Gaucher community in a few words or phrases, what would you say?
A caring community and one that is passionate for managing and caring the disease.
