Well, I have some news. I had an appointment with a geneticist yesterday, because my fertility doctor was trying to figure out why I kept on having miscarriages when they couldn’t really find things obviously wrong with me, so they took some of my blood and did more testing. The results came and I had a very revealing talk with a very nice lady about my karyotype.
So, turns out I have a rare genetic disorder in which some of my cells are missing an X chromosome. It’s called mosaic Turner syndrome. Apparently I have a very mildly expressed case, so it went undiagnosed until now, when I’m a full-on adult for a while. Usually they start testing when you’re a teenager and didn’t start your period at all, or you had a heart attack in your 20s, or you’re just exceptionally short, and other very obvious and abnormal things. Those are the full-on Turner syndromes, where all the cells are missing an X chromosome. For me it’s only about a quarter defective – hence, mosaic. Luckily I missed a lot of the negatives growing up, as nothing happened to me that was out of the ordinary. Unluckily, I did not get spared when it comes to getting pregnant. I apparently have about 40% miscarriage rate compared to normal people’s 10%, and all in all my entire reproductive system just doesn’t work quite right.
So yeah. Quite some news, huh? I’m still processing the shock of it, and I think it’s an effect of the pandemic years, because now I’m just numb than depressed. A bit sad, surely, but not catatonic or anything. My spouse and my in-laws are very sad about it. My mom, however, when I told her, was more understanding. Probably because she works as a lab technician so she has medical background, so I didn’t have to explain too much about what’s going on and she “gets” it, you know? Unlike my mother-in-law who has no idea what’s what and is just like “what is wrong with you why how what does this mean?!” Bless her heart, yeah?
Now, because I’ve been diagnosed, I have to go get some routine checks. The most important two are the cardiologist and a nephrologist. Or maybe not necessarily a nephrologist but definitely a renal ultrasound. I have to go get an echocardiogram first, just to rule out there could be some function issues with my heart, and then make sure I have functional kidneys. Key there is plural, kidneys; people with this disorder sometimes have one messed up kidney and one okay one. So fun times ahead. Either way I’m not planning go anywhere near a hospital until well into February because of Covid. I’m expecting to hear from my fertility doctor soon. I imagine we’d make detailed plans then.
Like I said I’m still processing. I’m definitely giving myself a few days off so not much going on work-wise. Maybe I’ll start cleaning the house or something, just so I can deal with it while doing something productive that doesn’t require too much brain work. I’ll keep you updated for sure.