Shandi Sturgill

February is Turner Syndrome awareness month. I have debated all month about if I would post and what I would speak about. For some reason it feels really vulnerable to share my story.

If you’ve never heard of Turners, it is a genetic mutation that affects your sex chromosomes. With this mutation one of the X chromosomes is missing from the pair. This manifest in various ways. There are certain physical attributes like a low hairline, a webbed neck, and shortened fourth fingers and/ or toes. There can also be issues with the heart or kidneys, and the ovaries are non-functional which leads to infertility.

I was diagnosed with Mosaic Turner Syndrome about twenty years ago. This means that some of my DNA has the proper full set of two X chromosomes while the rest of my DNA only has one X. I got tested because I have a couple of the physical symptoms, most prominent being my fourth toes on both feet are shortened. The other tip off was that I pretty much kept ear infections when I was young (you gotta love having faulty eustachian tubes). A blood test showed that I have a 45,X/46,XX karyotype. Thankfully all my scans of my organs were normal, and I haven’t had any complications. All though I have to admit being red/ green color deficient can be annoying as hell.

After getting diagnosed my treatment plan was the standard for most Turner’s girls. I was started on estrogen replacement and had growth hormone injections until I was 15 and my bones fused. Since those treatments were done it’s been yearly checks with an endocrinologist to ensure everything is remaining as it should. I’ve been able to loosen up on visits to the cardiologist because they’ve determined I shouldn’t experience issues with my heart/ aorta.

It’s wild to realize that my journey with TS began so long ago. But I will always be proud to be a butterfly.