I have a genetic testing story from 25 years ago. I am confident that the science and testing have evolved for the better, but with any testing, I recommend a second opinion.
I was pregnant with my first child when we were advised to undergo genetic testing. Since both of us have Jewish Eastern European roots, there is a panel of tests for hereditary diseases. The test results revealed that I had Gaucher disease and that the child I was carrying (three months pregnant at the time) had a one-in-four chance of being born with the disease.
Babies born with Gaucher disease often experience severe pain and have a shortened lifespan. I was overwhelmed and terrified. What do I do? I knew I needed to act quickly and take control. I found a Gaucher study at a world-class hospital in NYC and enrolled.
In the meantime, I had an amniocentesis to determine if my baby had the disease. She did not — that was an incredible relief, but my journey wasn’t over yet.
In my eighth month, I received a letter (paper — this was 25 years ago) informing me that my blood results from the study showed that I did not have Gaucher disease but was a carrier. All that stress and anxiety for an incorrect test result.
I have a genetic testing story from 25 years ago. I am confident that the science and testing have evolved for the better, but with any testing, I recommend a second opinion.
I was pregnant with my first child when we were advised to undergo genetic testing. Since both of us have Jewish Eastern European roots, there is a panel of tests for hereditary diseases. The test results revealed that I had Gaucher disease and that the child I was carrying (three months pregnant at the time) had a one-in-four chance of being born with the disease.
Babies born with Gaucher disease often experience severe pain and have a shortened lifespan. I was overwhelmed and terrified. What do I do? I knew I needed to act quickly and take control. I found a Gaucher study at a world-class hospital in NYC and enrolled.
In the meantime, I had an amniocentesis to determine if my baby had the disease. She did not — that was an incredible relief, but my journey wasn’t over yet.
In my eighth month, I received a letter (paper — this was 25 years ago) informing me that my blood results from the study showed that I did not have Gaucher disease but was a carrier. All that stress and anxiety for an incorrect test result.
In sum, ALWAYS get a second opinion.
This is such valuable information, Lainie!! Thank you so much for sharing this very personal experience. So very glad your outcome was a good one.
Still waiting for my results, which will come in two parts. Of course, I will share - along with the full context of why I tested - once I know.
You never know who may read this and feel less alone and more educated by your words ❤️