My genetics appointment today brought about two equally unsettling findings/possibilities. The first is the possibility that I have something called Mosaic Turner Syndrome...which would actually explain just about everything under the sun with me from my height to my bicuspid aortic valve, to my fingers (oddly enough), my ankles and knees (which are slightly 'strange'), to a mildly increased degree of pigment marks on my skin, to my more pointy/heart shaped face and young looking face, to the irregularities with some aspects of being female...
Mosaic Turner syndrome is when some of a female's cells do not contain two X chromosomes. This can naturally lead to problems that manifest themselves differently in each person. If I do have Mosaic Turner syndrome, I will likely be a mild case, given that I do have my sexual characteristics and although problematic, I do at least have a functioning uterus.
The bad news is that even if I do have a mild case, I am likely to not be able to have children of my own. I won't know the results of the blood tests for some time (up to about 4 months), which means that a graduation 'present' could be finding out that I cannot have children of my own.
The other slightly disturbing finding is that my blood pressure-especially the bottom number-has continued to trend upwards. My blood pressure was actually 112 over 86. Now, the top systolic number is pretty much exactly where you would want to see it. However, the bottom number is well into what is considered pre-hypertension, and pretty close to hypertension. The diastolic number is particularly important to look at when there is any sort of valve disregulation occurring.
Again and again, every symptom-including this diastolic number-points towards my aortic valve, however small the disregulation is, affecting me! Sigh.
No comments:
Post a Comment