just another one of life's little tests
today i had genetic counseling and screening...hoping I pass
Firing off a quick post on a topic that requires a much deeper dive and I’ll get to it all.
Just got back from genetic counseling. Yes, I’ll go into all of the “hows” and “whys” much deeper on future post(s).
For now, it’s important to me to share that I went on the advice of a treating MD after routine testing. First round of results arrive in approx. 2 weeks. I had the option to test 81 genes but chose to only do 21 because I don’t want to set myself up to stress about unnecessary things that I can’t control.
You probably have questions. Believe me, so do I 🧐
Suffice it to say, I recently learned that my genetics are only half of what I thought for most of my life. (Thats right - there is a big memoir hint). This is not the sole reason for getting my genes tested. A (sort of) routine diagnostic test led to funky result and, in turn - a biopsy and finally, a relatively tame diagnosis.
The universe is whispering again and I’m listening.
Please reach out with any thoughts, comments or questions and I’ll reply publicly or privately.
And I’ll keep writing and sharing because well, now the cat is outta the proverbial bag.
Oh, and sharing is caring xoxo
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.