Stories of Strength & Hope

Sarah's Prevention Journey: How Genetic Testing Changed Everything

I never thought a simple blood test would change the entire trajectory of my life. At 26, newly engaged and planning my future with my fiancé David, genetic testing seemed like just another item on our pre-wedding checklist. Our rabbi had mentioned it during our pre-marital counseling, and honestly, I was going through the motions more than anything else.

The call came on a Tuesday afternoon while I was at work. "Sarah, this is Dr. Goldstein from the genetic counseling center. I have your test results, and I'd like you to come in to discuss them." The tone in her voice made my stomach drop. I knew immediately that something was wrong.

Sitting in that small office two days later, hearing the words "Tay-Sachs carrier" felt surreal. Dr. Goldstein explained that I carried one copy of the gene mutation that causes Tay-Sachs disease, a devastating neurological condition that primarily affects Ashkenazi Jewish children. She was careful to emphasize that being a carrier didn't mean I would develop the disease myself, but it did mean that if David was also a carrier, our children would have a 25% chance of being born with Tay-Sachs.

The next week waiting for David's results was the longest of my life. We barely talked about it, both of us afraid to voice our fears. When his results came back negative, the relief was overwhelming. But something had shifted in me during that week of uncertainty. I had glimpsed a different future, one where our family planning would be complicated by genetic risk, and it opened my eyes to a reality I had never considered.

That experience led me to volunteer with the genetic counseling center, helping other couples navigate their own testing journeys. I've now spoken with hundreds of families, and I've seen how knowledge truly is power. Some couples discover they're both carriers and choose IVF with genetic testing. Others decide to adopt. Some take the 25% risk and have biological children, armed with the knowledge to make informed decisions.

What I've learned is that there's no "right" choice when it comes to genetic risk - there are only informed choices. The genetic testing that initially terrified me became the foundation for the most important decisions of my life. David and I now have two healthy children, and we're expecting our third. But more importantly, we've become advocates for genetic education in our community.

If you're considering genetic testing, my advice is simple: knowledge is always better than uncertainty. Whatever your results show, you'll have options and support. The Jewish community has incredible resources for genetic health, and you don't have to navigate this journey alone.