November 11, 2020

Today I have a virtual appointment with a genetic counselor about the results of my DNA tests done by the fertility clinic.

I have Turner's Mosaicism. Not full-on Turner's syndrome, Turner's Mosaic is when the 23rd chromosome of your DNA, the one that determines sex, is missing an X in some of your cells.

Typically, a female has an XX on the 23rd chromosome. With Turner's Mosaicism, most of your cells have the XX, but some do not. It's not that they have an XY; they simply have a X. Nothing else. Just one X. Millions of cells are widows. About 13% of my cells have only 1 X.

Turner's Mosaic is a chromosomal abnormality that is not inherited. The Counselor explains that it has nothing to do with the sperm or the egg (Mom or Dad). It is a systematic error; when the cell begins to divide and multiply, something simply gets lost, namely, the second X.

This is somewhat frightening to me; this absence. I'm asked to stand so the Dr. can look at the length of my arms. She asks about learning disabilities, asks about blindness.

What does Turner's Syndrome mean in terms of fertility? It could mean an accelerated loss of eggs, as well a 2-3 higher times rate of losing a pregnancy.

But right now, we need not worry about that. My eggs can be extracted and my embryos will be tested for chromosomal abnormalities if I go the IVF route. Right now, though, I need to be worried about my heart. My cholesterol is extremely high and we need to examine the cardiac manifestation of my Turner's Mosaic.

I have to see a cardiologist ASAP, and then I need to have further genetic testing. Does this circus ever end?

Recommended screenings for women with Turner's Mosaic: *annual physical with liver & kidney function testing, blood pressure, & thyroid *annual OB/GYN care *annual dermatology *baseline cardiac evaluation w/ echo-cardiogram, then cardiac evaluation every 3-5 years (or *based on cardiologist recommendation) *ENT/audiology if needed