While I was worried about the effects of Gaucher, life happened anyway
At 21, I thought my diagnosis would be a bigger obstacle than it turned out to be
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When I was diagnosed with Gaucher disease at 21, I had a lot of questions about what it would mean for my future. Some were medical. I wondered whether I would develop complications or whether having a genetic disease would make certain things more complicated than I had expected.
But I also worried about something more personal: Would anyone even want to date me?
I was afraid that having a genetic disease would make me less appealing as a potential partner. I worried that someone might hear about my diagnosis, learn that I needed enzyme replacement therapy every two weeks, and decide that it was more than they wanted to take on. Would I find someone who was comfortable with all of it? Would I be able to get married and have the family I hoped for, or would Gaucher make those things harder for me?
At 21, I didn’t know the answers. I knew that genetic diseases carried a stigma, and I worried about how that might affect the way someone saw me.
When I eventually told my now-husband about Gaucher, I was very nervous. I had spent so much time imagining how someone might react that I wasn’t sure what to expect. His response was much more straightforward than I had anticipated. He didn’t think it was a big deal. He told me that everyone has things going on in their lives, and knowing about my diagnosis didn’t change how he viewed me.
He also shared genetic and medical information from his own family. What I had approached as a potentially difficult conversation became an exchange in which we both had things to share.
Of course, accepting my diagnosis was only one part of thinking about our future together. Because Gaucher is genetic, we also had to consider what it might mean for our future children. We eventually learned that my husband wasn’t a carrier, which meant our children could inherit the Gaucher variant from me and be carriers themselves, but wouldn’t be expected to have the disease. It was another practical consideration we had to work through as we planned our future.
I got married at 24, and at 26, I had my first baby.
What I’d tell my 21-year-old self
When I look back at the person I was at 21, I think about how much uncertainty I felt about things that hadn’t happened yet. I was worried that Gaucher might affect my ability to find a partner, get married, and have the family I hoped for. I didn’t know how those parts of my life would unfold, and sometimes imagined that my diagnosis would be a bigger obstacle than it turned out to be.
That doesn’t mean Gaucher stopped mattering. I still receive regular infusions and attend medical appointments. Having a genetic disease continues to be part of my life, and there are practical considerations that come with it. My experience also isn’t necessarily representative of what other people with the condition will face.
But Gaucher wasn’t the only thing happening in my life during those years. I was growing up, building a relationship, getting married, and becoming a mother. Those experiences weren’t separate from my having Gaucher, but they weren’t defined by it, either.
I sometimes wonder what I would tell myself at 21 if I could go back. I wouldn’t promise that everything would be easy or that having a genetic disease would never complicate things. I would tell myself that I didn’t yet know how my story would unfold, and that I didn’t have to assume the diagnosis would determine it.
At 21, I was imagining all the things Gaucher might make harder. I couldn’t yet see all the parts of my life that would happen while I had it.
Note: Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Gaucher Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Gaucher disease.
