Rivka Silver shares her unexpected Gaucher diagnosis, the stigma she faced, and how she learned to navigate treatment, marriage, and motherhood. Now an advocate and columnist, she reflects on the power of acceptance and being open about life with a rare disease.
Transcript
Hi, so I’m Rivka Silver. I am currently writing a column for Bionews on Gaucher. I’m from Israel. I live in the north in Pardes Hanna — a beautiful, green, very nice lifestyle.
I was diagnosed with type 1 Gaucher disease in 2020. My sister did prenatal genetic testing in 2020 and basically found out that she had Gaucher. We were both totally healthy, had no signs, and then she basically found out that she was sick with it. And so because of that, then me and my brother got tested and found out, surprisingly, that I also had it.
And it was one of those things that all of a sudden, having to go to the hospital and getting checked and blood tests and MRIs and kind of going from being totally healthy and clueless to now almost feeling like a sick person, even though I really didn’t feel sick. It was a very big jump for me in my lifestyle and, honestly, a big shock.
But now, after many years of living with Gaucher, it’s very manageable. I receive an infusion every two weeks, luckily from my house, so it’s very convenient. My symptoms are all managed. I have low bone density, but because of the infusions, that’s been managed.
So once I was diagnosed, I had a really hard time coming to terms with the diagnosis because kind of going from somebody who had really no idea of even what the disease was to all of a sudden being thrown into that life, to that world. I had a really hard time dealing with it — dealing with what other people would now think of me, how I would even share the news, the stigma that comes around rare diseases and also the big term “genetic diseases” sounds really scary and big, and I just did not really know how to manage that.
Through the years, I’ve tried to honestly become an advocate for — especially now, being a mom and realizing, OK, like I’ve managed it through a relationship and marriage and now a baby. You know, it really is possible to live, you know, quote-unquote “normal life,” even with it.
And so I titled my column for Bionews “The Gaucher Guide to Grace” because I think that in this whole world, the biggest thing that you can do for yourself is just give yourself a lot of grace — that the process isn’t overnight to come to terms with it, to manage your symptoms. It’s really a long process and you have to give yourself the space.
Only recently did I actually become very open about it. For a while, only really close friends and family knew about it, and I think since having a baby, it’s sort of made me realize that there’s nothing to be ashamed of. He’s going to grow up with a mom who gets an IV every two weeks.
Just two weeks ago, actually, while I was getting my infusion, the nurse set it up for me in a way that I was playing on the floor with him while getting it. Because being a mom, you can’t really, like, just stop doing that. And so I’ve managed ways to kind of incorporate both aspects of my life. One isn’t separate from the other. And, you know, he sees the IV and I explain to him the medicine.
So kind of my goal through writing this column is to basically be there as support for the community, because I kind of wish I had a young person who was telling me, like, it’s going to be OK. You can still have all the things in life that you want, and just to be a voice also to other mothers, because I feel like that’s a very niche thing that not a lot of people are talking about, what it’s like to be a mom and navigating a disease.
I just want to be a soundboard, you know, for that Gaucher community. Be an advocate. Get our story out there.
